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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, melanoma, and breast cancer (PMID: 24709888, PMID: 25510282, PMID: 26842708, PMID: 32112088, PMID: 32303702).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
mutant unknown unknown SF3B1 mutant indicates an unspecified mutation in the SF3B1 gene.
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, Apr 2020).