No paralogue variants have been mapped to residue 1107 for SCN5A.
| SCN5A | SRTWSQVSATASS------EA--------->E<ASASQADWRQQWKAEPQAPG----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--------->S<QRVQSVEIDMFSEDEPHLTIQDPRKKSD-V | 987 |
| CACNA1A | SLGHAGLPQSPAKMGNSTDPGPMLAIPAMA>T<NPQNAASRRTPNNPGNPSNPGPP--KTP-E | 1142 |
| CACNA1B | ------ATEKEAEIVEADKEKELR-NHQPR>E<PHCDLETSGTVTVGPMHTLPSTC--LQK-V | 1052 |
| CACNA1C | PVGPRP------------------------>-<------------------------------ | 859 |
| CACNA1D | PAGPRP------------------------>-<------------------------------ | 865 |
| CACNA1E | ------MGRVI-------S------QSEPD>L<SCITAN--------------TDK--ATT-E | 1066 |
| CACNA1F | EGAGGV------------------------>-<------------------------------ | 830 |
| CACNA1G | SKGERV------------------------>-<------------------------------ | 1236 |
| CACNA1H | SCCLRL------------------------>-<------------------------------ | 1254 |
| CACNA1I | TLCFRV------------------------>-<------------------------------ | 1130 |
| CACNA1S | PLSPRP------------------------>-<------------------------------ | 758 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E1107K | c.3319G>A | Other Cardiac Phenotype | rs199473193 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Other Cardiac Phenotype | A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 116(2):430-5. 16453024 | ||||
| Putative Benign | 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 | ||||