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Gene Symbol SF3B1
Synonyms Hsh155 | MDS | PRP10 | PRPF10 | SAP155 | SF3b155
Gene Description SF3B1, splicing factor 3b, subunit 1, is a core member of the U2 small nuclear ribonucleoprotein complex of the spliceosome which mediates the splicing of genes involved in myelodysplastic syndrome (MDS) pathogenesis (PMID: 25510282, PMID: 26842708). Mutations in SF3B1 are frequent in MDS and have also been identified in chronic lymphocytic leukemia and melanoma (PMID: 24709888, PMID: 25510282, PMID: 26842708).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1047S missense unknown SF3B1 A1047S lies within the HEAT repeat 8 region of the Sf3b1 protein (UniProt.org). A1047S has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A176T missense unknown SF3B1 A176T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A176T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A284T missense unknown SF3B1 A284T lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). A284T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A601T missense unknown SF3B1 A601T lies within the HEAT repeat 2 region of the Sf3b1 protein (UniProt.org). A601T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A633V missense unknown SF3B1 A633V lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). A633V has been identified in the scientific literature (PMID: 25768983, PMID: 25424858), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A708V missense unknown SF3B1 A708V lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). A708V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A713T missense unknown SF3B1 A713T lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). A713T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A847V missense unknown SF3B1 A847V lies within the HEAT repeat 7 region of the Sf3b1 protein (UniProt.org). A847V has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A86T missense unknown SF3B1 A86T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A86T has been identified in sequencing studies (PMID: 29221171), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A899S missense unknown SF3B1 A899S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A899S has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A959V missense unknown SF3B1 A959V does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A959V has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
A996S missense unknown SF3B1 A996S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A996S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D1015G missense unknown SF3B1 D1015G lies within the HEAT repeat 8 region of the Sf3b1 protein (UniProt.org). D1015G has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D1175Y missense unknown SF3B1 D1175Y lies within the HEAT repeat 11 region of the Sf3b1 protein (UniProt.org). D1175Y has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D219E missense unknown SF3B1 D219E lies within the U2AF homology region of the Sf3b1 protein (UniProt.org). D219E has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D255N missense unknown SF3B1 D255N lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). D255N has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D781E missense unknown SF3B1 D781E lies within the HEAT repeat 6 region of the Sf3b1 protein (UniProt.org). D781E has been identified in sequencing studies (PMID: 25424858), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D781X missense unknown SF3B1 D781X indicates any Sf3b1 missense mutation that results in replacement of the aspartic acid (D) at amino acid 781 by a different amino acid.
D894del deletion unknown SF3B1 D894del results in the deletion of one amino acid of the Sf3b1 protein at amino acid 894 (UniProt.org). D894del has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D894G missense unknown SF3B1 D894G does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). D894G has been identified in sequencing studies (PMID: 26053404, PMID: 24850867), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D894N missense unknown SF3B1 D894N does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). D894N has been identified in sequencing studies (PMID: 28380455), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
D907Y missense unknown SF3B1 D907Y does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). D907Y has been identified in sequencing studies (PMID: 28524162), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
E1029K missense unknown SF3B1 E1029K lies within the HEAT repeat 8 region of the Sf3b1 protein (UniProt.org). E1029K has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
E1221Q missense unknown SF3B1 E1221Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). E1221Q has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
E17* nonsense loss of function - predicted SF3B1 E17* results in a premature truncation of the Sf3b1 protein at amino acid 17 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E17* is predicted to lead to a loss of Sf3b1 protein function.
E490K missense unknown SF3B1 E490K lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). E490K has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
E622D missense unknown SF3B1 E622D lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). E622D, in combination with a group of other SF3B1 mutations, is associated with a deferentially expressed gene signature compared to wild-type Sf3b1 protein in culture (PMID: 25428262), however, it has not been individually characterized and therefore, its effect on Sf3b1 protein function is unknown.
E622Q missense unknown SF3B1 E622Q lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). E622Q has been identified in sequencing studies (PMID: 26874914), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
E622X missense unknown SF3B1 E622X indicates any Sf3b1 missense mutation that results in replacement of the glutamic acid (E) at amino acid 622 by a different amino acid.
E722K missense unknown SF3B1 E722K does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). E722K has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
E862K missense unknown SF3B1 E862K lies within the HEAT repeat 7 region of the Sf3b1 protein (UniProt.org). E862K has been identified in the scientific literature (PMID: 30530780), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
E902K missense unknown SF3B1 E902K does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). E902K has been identified in the scientific literature (PMID: 25303977, PMID: 29617667), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
E99G missense unknown SF3B1 E99G does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). E99G has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
G140R missense unknown SF3B1 G140R does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G140R has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
G241* nonsense loss of function - predicted SF3B1 G241* results in a premature truncation of the Sf3b1 protein at amino acid 241 of 1304 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G241* is predicted to lead to a loss of Sf3b1 protein function.
G330* nonsense loss of function - predicted SF3B1 G330* results in a premature truncation of the Sf3b1 protein at amino acid 330 of 1304 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G330* is predicted to lead to a loss of Sf3b1 protein function.
G664D missense unknown SF3B1 G664D lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). G664D has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
G740E missense unknown SF3B1 G740E does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G740E has been identified in the scientific literature (PMID: 30049194, PMID: 26565915, PMID: 23337928), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
G740V missense unknown SF3B1 G740V does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G740V has been identified in sequencing studies (PMID: 26565915), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
G740X missense unknown SF3B1 G740X indicates any Sf3b1 missense mutation that results in replacement of the glycine (G) at amino acid 740 by a different amino acid.
G742D missense no effect - predicted SF3B1 G742D does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G742D demonstrates similar effects on erythoid differentiation in cell culture as wild-type Sf3b1 (Cancer Res August 1, 2015 75; 2040) and therefore, is predicted to have to effect of Sf3b1 protein function.
G742X missense unknown SF3B1 G742X indicates any Sf3b1 missense mutation that results in replacement of the glycine (G) at amino acid 742 by a different amino acid.
G83* nonsense loss of function - predicted SF3B1 G83* results in a premature truncation of the Sf3b1 protein at amino acid 83 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G83* is predicted to lead to a loss of Sf3b1 protein function.
G922D missense unknown SF3B1 G922D does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G922D has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
H1256Y missense unknown SF3B1 H1256Y lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). H1256Y has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
H662D missense unknown SF3B1 H662D lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). H662D has been identified in the scientific literature (PMID: 21998214, PMID: 28087715), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
H662Q missense loss of function - predicted SF3B1 H662Q lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). H662Q is predicted to confer a loss of function to the Sf3b1 protein as indicated by aberrant mRNA splicing of Sf3b1 target genes in cell culture (PMID: 26565915).
H662R missense unknown SF3B1 H662R lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). H662R has been identified the scientific literature (PMID: 28087715), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
H662X missense unknown SF3B1 H662X indicates any Sf3b1 missense mutation that results in replacement of the histidine (H) at amino acid 662 by a different amino acid.
I1004L missense unknown SF3B1 I1004L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). I1004L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
I1073M missense unknown SF3B1 I1073M lies within the HEAT repeat 9 region of the Sf3b1 protein (UniProt.org). I1073M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
I1241M missense unknown SF3B1 I1241M does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). I1241M has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
I1241T missense unknown SF3B1 I1241T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). I1241T has been identified in sequencing studies (PMID: 27618449), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
I1268M missense unknown SF3B1 I1268M lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). I1268M has been identified in sequencing studies (PMID: 27618449, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
I1274F missense unknown SF3B1 I1274F lies within the SF3B3 and SF3B5-interacting region (UniProt.org). I1274F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
I665F missense unknown SF3B1 I665F lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). I665F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
I704X missense unknown SF3B1 I704X indicates any Sf3b1 missense mutation that results in replacement of the isoleucine (I) at amino acid 704 by a different amino acid.
inact mut unknown loss of function SF3B1 inact mut indicates that this variant results in a loss of function of the Sf3b1 protein. However, the specific amino acid change has not been identified.
K120Q missense unknown SF3B1 K120Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K120Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
K121M missense unknown SF3B1 K121M does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K121M has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
K357M missense unknown SF3B1 K357M lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). K357M has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
K666E missense unknown SF3B1 K666E lies within HEAT repeat 4 of the Sf3b1 protein (UniProt.org). K666E, when expressed in a chimeric protein of Sf3b1, leads to reduced cell growth relative to the wild-type Sf3b1 chimeric protein in a reporter assay in yeast (PMID: 29752352), but has not been fully biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown.
K666M missense unknown SF3B1 K666M lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666M has been identified in sequencing studies (PMID: 28581676, PMID: 28303898), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
K666N missense loss of function - predicted SF3B1 K666N lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666N is predicted to confer a loss of function to the Sf3b1 protein as indicated by aberrant mRNA splicing of Sf3b1 target genes in cell culture (PMID: 26565915).
K666Q missense unknown SF3B1 K666Q lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666Q has been identified in the scientific literature (PMID: 22064355), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
K666R missense unknown SF3B1 K666R lies within HEAT repeat 4 of the Sf3b1 protein (UniProt.org). K666R, in combination with a group of SF3B1 mutations, is associated with a differentially expressed gene signature compared to wild-type SF3B1 in culture (PMID: 25428262), but has not been individually characterized and therefore, its effect on Sf3b1 protein function is unknown.
K666T missense loss of function - predicted SF3B1 K666T lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666T is predicted to confer a loss of function to the Sf3b1 protein as indicated by aberrant mRNA splicing of Sf3b1 target genes in cell culture (PMID: 26842708).
K666X missense unknown SF3B1 K666X indicates any Sf3b1 missense mutation that results in replacement of the lysine (K) at amino acid 666 by a different amino acid.
K700E missense loss of function SF3B1 K700E lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). K700E confers a loss of function to the Sf3b1 protein as indicated by aberrant mRNA splicing of Sf3b1 target genes in cell culture and knock-in animal models (PMID: 26565915, PMID: 27818134).
K700I missense unknown SF3B1 K700I lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). K700I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
K700N missense gain of function - predicted SF3B1 K700N lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). K700N results in induction of aberrant splicing by Sf3b1 in cultured cells (PMID: 29296742).
K700R missense no effect SF3B1 K700R lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). K700R promotes erythoid differentiation and demonstrates mRNA splicing pattern similar to wild-type SF3B1 in culture (PMID: 26565915, ASH AEE Dec 2014, Abstract #4615).
K700X missense unknown SF3B1 K700X indicates any Sf3b1 missense mutation that results in replacement of the lysine (K) at amino acid 700 by a different amino acid.
K741E missense unknown SF3B1 K741E does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K741E has been identified in sequencing studies (PMID: 29617667, PMID: 31168457), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
K741N missense unknown SF3B1 K741N does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K741N has been identified in sequencing studies (PMID: 26837699, PMID: 22158541, PMID: 31168457), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
K741Q missense unknown SF3B1 K741Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K741Q has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
K741T missense unknown SF3B1 K741T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K741T has been identified in sequencing studies (PMID: 23337928, PMID: 30807786), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
K741X missense unknown SF3B1 K741X indicates any Sf3b1 missense mutation that results in replacement of the lysine (K) at amino acid 741 by a different amino acid.
K786Q missense unknown SF3B1 K786Q lies within the HEAT repeat 6 region of the Sf3b1 protein (UniProt.org). K786Q has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
L1212M missense unknown SF3B1 L1212M does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). L1212M has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
L1280F missense unknown SF3B1 L1280F lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). L1280F has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Sep 2019).
L464F missense unknown SF3B1 L464F lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). L464F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
L544P missense unknown SF3B1 L544P lies within the HEAT repeat 1 and SF3B14-interacting region of the Sf3b1 protein (UniProt.org). L544P has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
L773R missense unknown SF3B1 L773R lies within the HEAT repeat 6 region of the Sf3b1 protein (UniProt.org). L773R has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
M1195V missense unknown SF3B1 M1195V lies within the HEAT repeat 11 region of the Sf3b1 protein (UniProt.org). M1195V has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
M876L missense unknown SF3B1 M876L lies within the HEAT repeat 7 region of the Sf3b1 protein (UniProt.org). M876L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
M962I missense unknown SF3B1 M962I does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). M962I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
mutant unknown unknown SF3B1 mutant indicates an unspecified mutation in the SF3B1 gene.
N185S missense unknown SF3B1 N185S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). N185S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
N626D missense unknown SF3B1 N626D lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). N626D has been identified in sequencing studies (PMID: 25424858, PMID: 27771989), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
N626H missense unknown SF3B1 N626H lies within HEAT repeat 3 of the Sf3b1 protein (UniProt.org). N626H has been identified in sequencing studies (PMID: 23415222), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Sep 2019).
N626X missense unknown SF3B1 N626X indicates any Sf3b1 missense mutation that results in replacement of the asparagine (N) at amino acid 626 by a different amino acid.
P135S missense unknown SF3B1 P135S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). P135S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
P228S missense unknown SF3B1 P228S lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P228S has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
P279S missense unknown SF3B1 P279S lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P279S has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
P370L missense unknown SF3B1 P370L lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P370L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
P409Q missense unknown SF3B1 P409Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P409Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
P465S missense unknown SF3B1 P465S lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P465S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
P642L missense unknown SF3B1 P642L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). P642L has been identified in sequencing studies (PMID: 24709888), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Sep 2019).
P718L missense unknown SF3B1 P718L lies within HEAT repeat 5 of the Sf3b1 protein (UniProt.org). P718L has been identified in sequencing studies (PMID: 21995386), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
P812S missense unknown SF3B1 P812S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). P812S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
P930S missense unknown SF3B1 P930S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). P930S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
Q220K missense unknown SF3B1 Q220K lies within the U2AF homology region of the Sf3b1 protein (UniProt.org). Q220K has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
Q473E missense unknown SF3B1 Q473E lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). Q473E has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
Q518R missense unknown SF3B1 Q518R does not lie within any functional domains of the Sf3b1 protein (UniProt.org). Q518R has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
Q669H missense unknown SF3B1 Q669H lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). Q669H has been identified in the scientific literature (PMID: 30176882), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
Q901R missense unknown SF3B1 Q901R does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). Q901R has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R1041H missense unknown SF3B1 R1041H lies within HEAT repeat 8 of the Sf3b1 protein (UniProt.org). R1041H has been identified in sequencing studies (PMID: 21995386), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
R1074H missense unknown SF3B1 R1074H lies within the HEAT repeat 9 region of the Sf3b1 protein (UniProt.org). R1074H has been demonstrated to mediate resistance to splicing modulators in culture (PMID: 28541300, PMID: 21981285, PMID: 29491137), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown. Y
R1245T missense unknown SF3B1 R1245T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R1245T has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R1297C missense unknown SF3B1 R1297C lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). R1297C has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R1297H missense unknown SF3B1 R1297H lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). R1297H has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R16* nonsense loss of function - predicted SF3B1 R16* results in a premature truncation of the Sf3b1 protein at amino acid 16 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R16* is predicted to lead to a loss of Sf3b1 protein function.
R292K missense unknown SF3B1 R292K lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R292K has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R315L missense unknown SF3B1 R315L lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R315L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R318* nonsense loss of function - predicted SF3B1 R318* results in a premature truncation of the Sf3b1 protein at amino acid 318 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R318* is predicted to lead to a loss of Sf3b1 protein function.
R334I missense unknown SF3B1 R334I lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R334I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R387Q missense unknown SF3B1 R387Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R387Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Sep 2019).
R387W missense unknown SF3B1 R387W lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R387W has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R397H missense unknown SF3B1 R397H lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R397H has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R425Q missense unknown SF3B1 R425Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R425Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
R451L missense unknown SF3B1 R451L lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R451L has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R451Q missense unknown SF3B1 R451Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R451Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R549C missense unknown SF3B1 R549C lies within the HEAT repeat 1, SF3B14-interacting, and PHF5A-interacting region of the Sf3b1 protein (UniProt.org). R549C has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R549fs frameshift unknown SF3B1 R549fs results in a change in the amino acid sequence of the Sf3b1 protein beginning at aa 549 of 1304, likely resulting in premature truncation of the functional protein (UniProt.org). R549fs has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Sep 2019).
R568C missense unknown SF3B1 R568C lies within the HEAT repeat 1 and SF3B14-interacting region of the Sf3b1 protein (UniProt.org). R568C has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R594Q missense unknown SF3B1 R594Q lies within the HEAT repeat 2 region of the Sf3b1 protein (UniProt.org). R594Q has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R625C missense unknown SF3B1 R625C lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). R625C has been identified in the scientific literature (PMID: 23313955, PMID: 28409567, PMID: 29371009), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R625D missense unknown SF3B1 R625D lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). R625D has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R625G missense loss of function - predicted SF3B1 R625G lies within HEAT repeat 3 of the Sf3b1 protein (UniProt.org). R625G demonstrates an altered splice site selection pattern in cell culture due to increased affinity for alternative branchpoints (PMID: 26842708), and therefore, is predicted to lead to a loss of Sf3b1 protein function.
R625H missense unknown SF3B1 R625H lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). R625H has been identified in the scientific literature (PMID: 28296713, PMID: 30558566), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R625L missense unknown SF3B1 R625L lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). R625L has been identified in sequencing studies (PMID: 28296713), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
R625X missense unknown SF3B1 R625X indicates any Sf3b1 missense mutation that results in replacement of the arginine (R) at amino acid 625 by a different amino acid.
R702W missense unknown SF3B1 R702W lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). R702W has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R736S missense unknown SF3B1 R736S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R736S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R828I missense unknown SF3B1 R828I does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R828I has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R831Q missense unknown SF3B1 R831Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R831Q has been identified in sequencing studies (PMID: 26401016), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
R939H missense unknown SF3B1 R939H does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R939H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
R957Q missense unknown SF3B1 R957Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R957Q has been identified in sequencing studies (PMID: 29617667), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
S1207L missense unknown SF3B1 S1207L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). S1207L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
S259R missense unknown SF3B1 S259R lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). S259R has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
S336* nonsense loss of function - predicted SF3B1 S336* results in a premature truncation of the Sf3b1 protein at amino acid 336 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S336* is predicted to lead to a loss of Sf3b1 protein function.
S541P missense unknown SF3B1 S541P lies within the HEAT repeat 1 and SF3B14-interacting region of the Sf3b1 protein (UniProt.org). S541P has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
S657F missense unknown SF3B1 S657F lies within HEAT repeat 4 of the Sf3b1 protein (UniProt.org). S657F has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
S71L missense unknown SF3B1 S71L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). S71L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
S908L missense unknown SF3B1 S908L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). S908L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
S97P missense unknown SF3B1 S97P does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). S97P has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
T1112A missense unknown SF3B1 T1112A does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). T1112A has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
T1187M missense unknown SF3B1 T1187M lies within the HEAT repeat 11 region of the Sf3b1 protein (UniProt.org). T1187M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
T267N missense unknown SF3B1 T267N lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). T267N has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
T434A missense loss of function - predicted SF3B1 T434A lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). T434A is predicted to confer a loss of function to the Sf3b1 protein, as demonstrated by a loss of Sf3b1 phosphorylation by Dyrk1a in cell culture (PMID: 16512921).
T520A missense unknown SF3B1 T520A does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). T520A has been identified in sequencing studies (PMID: 26168399, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
T663P missense unknown SF3B1 T663P lies within HEAT repeat 4 of the Sf3b1 protein (UniProt.org). T663P has been identified in sequencing studies (PMID: 28810145), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
T663X missense unknown SF3B1 T663X indicates any Sf3b1 missense mutation that results in replacement of the threonine (T) at amino acid 663 by a different amino acid.
T7I missense unknown SF3B1 T7I does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). T7I has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
T916A missense unknown SF3B1 T916A does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). T916A has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
V1078A missense unknown SF3B1 V1078A lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). V1078A has been demonstrated to mediate resistance to splicing modulators in culture (PMID: 28541300, PMID: 21981285), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown. Y
V1078I missense unknown SF3B1 V1078I lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). V1078I has been demonstrated to mediate resistance to splicing modulators in culture (PMID: 21981285, PMID: 28541300), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown. Y
V1169I missense unknown SF3B1 V1169I lies within HEAT repeat 11 of the Sf3b1 protein (UniProt.org). V1169I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
V422I missense unknown SF3B1 V422I lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). V422I has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
V591E missense unknown SF3B1 V591E lies within HEAT repeat 2 of the Sf3b1 protein (UniProt.org). V591E has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
V701I missense unknown SF3B1 V701I lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). V701I has been identified in sequencing studies (PMID: 21998214), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
V701X missense unknown SF3B1 V701X indicates any Sf3b1 missense mutation that results in replacement of the valine (V) at amino acid 701 by a different amino acid.
W1055L missense unknown SF3B1 W1055L lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). W1055L has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
W658G missense unknown SF3B1 W658G lies within HEAT repeat 4 of the Sf3b1 protein (UniProt.org). W658G has been identified in sequencing studies (PMID: 24997986), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
W658L missense unknown SF3B1 W658L lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). W658L has been identified in sequencing studies (PMID: 22722829), but not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
wild-type none no effect Wild-type SF3B1 indicates that no mutation has been detected within the SF3B1 gene.
Y1269F missense unknown SF3B1 Y1269F lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). Y1269F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).
Y623S missense unknown SF3B1 Y623S lies within HEAT repeat 3 of the Sf3b1 protein (UniProt.org). Y623S has been identified in sequencing stuides (PMID: 25223734), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
Y623X missense unknown SF3B1 Y623X indicates any Sf3b1 missense mutation that results in replacement of the tyrosine (Y) at amino acid 623 by a different amino acid.
Y752C missense unknown SF3B1 Y752C does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). Y752C has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
Y765C missense unknown SF3B1 Y765C lies within HEAT repeat 6 of the Sf3b1 protein (UniProt.org). Y765C has been identified in the scientific literature (PMID: 25768983, PMID: 25424858), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2019).
Y898H missense unknown SF3B1 Y898H does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). Y898H has been identified in sequencing studies (PMID: 25480502), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Oct 2019).