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Gene Symbol MYD88
Synonyms IMD68 | MYD88D
Gene Description MYD88, MYD88 innate immune signal transduction adaptor, is an adapter protein involved in Toll-like receptor and IL-1 signaling in the immune response, cytokine secretion, and inflammatory response (PMID: 19506249, PMID: 30086464). MYD88 mutations are frequently identified in hematological malignancies (PMID: 25132836, PMID: 29703722), including B-cell non-hodgkin lymphomas (PMID: 30203262).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A24T missense unknown MYD88 A24T does not lie within any known functional domains of the Myd88 protein (UniProt.org). A24T has not been characterized in the scientific literature and therefore, its effect on Myd88 protein function is unknown (PubMed, Apr 2020).
A6fs frameshift loss of function - predicted MYD88 A6fs results in a change in the amino acid sequence of the Myd88 protein beginning at aa 6 of 296, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A6fs is predicted to lead to a loss of function.
act mut unknown gain of function MYD88 act mut indicates that this variant results in a gain of function in the Myd88 protein. However, the specific amino acid change has not been identified.
E104Q missense unknown MYD88 E104Q lies within the Death domain of the Myd88 protein (UniProt.org). E104Q has been identified in sequencing studies (PMID: 31534501), but has not been biochemically characterized and therefore, its effect on Myd88 protein function is unknown (PubMed, Apr 2020).
F174Y missense unknown MYD88 F174Y lies within the TIR domain of the Myd88 protein (UniProt.org). F174Y has not been characterized in the scientific literature and therefore, its effect on Myd88 protein function is unknown (PubMed, Apr 2020).
F270S missense loss of function - predicted MYD88 F270S lies within the TIR domain of the Myd88 protein (UniProt.org). F270S is predicted to confer a loss of function to the Myd88 protein as demonstrated by loss of binding to Mal in cell culture (PMID: 26876098).
I220T missense gain of function - predicted MYD88 I220T lies within the TIR domain of the Myd88 protein (UniProt.org). I220T results in increased NF kappaB activation in culture (PMID: 25359991), and therefore, is predicted to lead to a gain of Myd88 protein function.
inact mut unknown loss of function MYD88 inact mut indicates that this variant results in a loss of function of the Myd88 protein. However, the specific amino acid change has not been identified.
L211F missense loss of function - predicted MYD88 L211F lies within the TIR domain of the Myd88 protein (UniProt.org). L211F is predicted to confer a loss of function to the Myd88 protein as demonstrated by loss of binding to Mal in cell culture (PMID: 26876098).
L229S missense unknown MYD88 L229S lies within the TIR domain of the Myd88 protein (UniProt.org). L229S is predicted to affect splicing by acting as a donor splice variant (PMID: 25886387), but has not been biochemically characterized and therefore, its effect on Myd88 protein function is unknown (PubMed, Jul 2020).
L265P missense gain of function MYD88 L265P (corresponds to L252P in the canonical isoform in UniProt.org) lies within the TIR domain of the Myd88 protein (UniProt.org). L265P confers a gain of function to Myd88, resulting in increased NF-kappaB signaling, and promotes cell survival in culture (PMID: 23836557, PMID: 21179087).
L289P missense unknown MYD88 L289P lies within the TIR domain of the Myd88 protein (UniProt.org). L289P has not been characterized and therefore, its effect on Myd88 protein function is unknown (PubMed, Apr 2020).
M232T missense gain of function - predicted MYD88 M232T lies within the TIR domain of the Myd88 protein (PMID: 27102345). M232T results in high activity of NF-kappaB compared to MYD88 wild-type in vitro and therefore, is predicted to result in a gain of function (PMID: 21179087).
mutant unknown unknown MYD88 mutant indicates an unspecified mutation in the MYD88 gene.
N278Y missense loss of function - predicted MYD88 N278Y lies within the TIR domain of the Myd88 protein (UniProt.org). N278Y is predicted to confer a loss of function to the Myd88 protein as demonstrated by loss of binding to Mal in cell culture (PMID: 26876098).
over exp none no effect MYD88 over exp indicates an over expression of the Myd88 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P245S missense loss of function - predicted MYD88 P245S lies within the TIR domain of the Myd88 protein (UniProt.org). P245S is predicted to confer a loss of function to the Myd88 protein as demonstrated by loss of binding to Mal in cell culture (PMID: 26876098).
P279L missense loss of function - predicted MYD88 P279L lies within the TIR domain of the Myd88 protein (UniProt.org). P279L is predicted to confer a loss of function to the Myd88 protein as demonstrated by loss of binding to Mal in cell culture (PMID: 26876098).
R231T missense gain of function - predicted MYD88 R231T lies within the TIR domain of the Myd88 protein (UniProt.org). R231T results in increased NF kappaB activation in culture (PMID: 25359991), and therefore, is predicted to lead to a gain of Myd88 protein function.
S222R missense gain of function MYD88 S222R lies within the TIR domain of the Myd88 protein (UniProt.org). S222R is associated with enhanced HCK and IL6 transcription (PMID: 27143257), results in increased Stat3 phosphorylation and Irak4-dependent increase in IL6 and IL8 expression (PMID: 29427642), and demonstrates increased interaction with wild-type Myd88 and leads to increased NF kappaB activation in cell culture (PMID: 25359991, PMID: 29427642, PMID: 21179087).
S243N missense gain of function MYD88 S243N lies within the TIR domain of the Myd88 protein (UniProt.org). S243N confers a gain of function to the Myd88 protein as demonstrated by increased NF kappaB activation in cell culture (PMID: 21179087, PMID: 25359991).
S244A missense loss of function MYD88 S244A lies within the TIR domain of the Myd88 protein (UniProt.org). S244A confers a loss of function to the Myd88 protein as demonstrated by decreased NF-kappaB activity compared to wild-type, and disruption of both Myd88 homodimerization and recruitment of IL-1 receptor-associated kinases in culture (PMID: 24019529).
S244D missense loss of function - predicted MYD88 S244D lies within the TIR domain of the Myd88 (UniProt.org). S244D is predicted to confer a loss of function to the Myd88 protein as demonstrated by loss of binding to Mal in cell culture (PMID: 26876098).
T272H missense loss of function - predicted MYD88 T272H lies within the TIR domain of the Myd88 protein (UniProt.org). T272H is predicted to confer a loss of function to the Myd88 protein as demonstrated by loss of binding to Mal in cell culture (PMID: 26876098).
T294P missense gain of function MYD88 T294P does not lie within any known functional domains of the Myd88 protein (UniProt.org). T294P confers a gain of function to the Myd88 protein as demonstrated by increased activation of NF kappaB signaling in cell culture (PMID: 21179087, PMID: 25359991)
V217F missense gain of function - predicted MYD88 V217F lies within the TIR domain of the Myd88 protein (UniProt.org). V217F is predicted to confer a gain of function to the Myd88 protein, as indicated by increased NF-kappaB signaling in culture (PMID: 25359991).
W205R missense unknown MYD88 W205R lies within the TIR domain of the Myd88 protein (UniProt.org). W205R has been identified in the scientific literature (PMID: 26876098), but has not been biochemically characterized and therefore, its effect on Myd88 protein function is unknown (PubMed, Apr 2020).
wild-type none no effect Wild-type MYD88 indicates that no mutation has been detected within the MYD88 gene.