No paralogue variants have been mapped to residue 1113 for SCN5A.
SCN5A | VSATASS------EA---------EASASQ>A<DWRQQWKAEPQAPG----CGETPE------ | 1133 |
SCN1A | ------------------------------>-<-------------------KLNES------ | 1148 |
SCN2A | ------------------------------>-<-------------------KLN-A------ | 1137 |
SCN3A | ------------------------------>-<-------------------KLN-A------ | 1135 |
SCN4A | ------------------------------>-<-------------------PLY-D------ | 959 |
SCN7A | ------------------------------>-<-------------------KIK-Q------ | 868 |
SCN8A | ------------------------------>-<-------------------KLD-D------ | 1128 |
SCN9A | ------------------------------>-<-------------------RLN-R------ | 1110 |
SCN10A | ------------------------------>-<-------------------GVD-D------ | 1080 |
SCN11A | -HQENKK------PT---------SQRVQS>V<EIDMFSEDEPHLTIQDPRKKSD-V------ | 987 |
CACNA1A | LPQSPAKMGNSTDPGPMLAIPAMATNPQNA>A<SRRTPNNPGNPSNPGPP--KTP-ENSLIVT | 1148 |
CACNA1B | ATEKEAEIVEADKEKELR-NHQPREPHCDL>E<TSGTVTVGPMHTLPSTC--LQK-VEEQPED | 1058 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | MGRVI-------S------QSEPDLSCITA>N<--------------TDK--ATT-ESTSVTV | 1072 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ------------------------------>-<------------------------------ | |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1113V | c.3338C>T | Inherited Arrhythmia | BrS | rs199473194 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||
Inherited Arrhythmia | BrS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 |