No paralogue variants have been mapped to residue 469 for SCN5A.
| SCN5A | -------------------RSSLEMSPLAP>V<NSHERRSKRRKR----MS-SGTE-ECGEDR | 493 |
| SCN1A | --EHSREPSAAGRL----SDSSSEASKLSS>K<SAKERRNRRKKRKQKEQS-GGEE-KDE-DE | 519 |
| SCN2A | ---ESRDFSGAGGIGVF-SESSSVASKLSS>K<SEKELKNRRKKKKQKEQS-GEEE-KND--R | 522 |
| SCN3A | ----SRDFSGIGGLGEL-LESSSEASKLSS>K<SAKEWRNRRKKRRQREHL-EGNN-KGERDS | 522 |
| SCN4A | ------------------------------>-<-----------------E-GGEA-DGD--- | 499 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | VSEDAIEEEGEEGG-GS-PRSSSEISKLSS>K<SAKERRNRRKKRKQKELS-EGEE-KGDPEK | 514 |
| SCN9A | --YTSIRRSRIMGL----SESSSETSKLSS>K<SAKERRNRRKKKNQKKLS-SGEE-KGDAEK | 499 |
| SCN10A | -------------------LHSHNGSPLTS>K<NASERRHRIKPRV----S-EGST-ED--NK | 475 |
| SCN11A | -------------------LTSLETSYFTP>K<KRKLFGNKKRKS----FF-LRES-GKD--Q | 478 |
| CACNA1A | ------------VILAEDETD--------->-<--------------------------GEQR | 414 |
| CACNA1B | ------------VMLAEEDRN--------->-<--------------------------AEEK | 410 |
| CACNA1C | ------------IDPENEDEG--------->-<--------------------------MD-- | 457 |
| CACNA1D | ------------IDPENEEEG--------->-<--------------------------GE-- | 458 |
| CACNA1E | ------------VMLAEENKN--------->-<--------------------------AGTS | 405 |
| CACNA1F | ------------LDMEDPSAD--------->-<--------------DNLG-SM-----AE-- | 430 |
| CACNA1G | --------RLAQVSRA--AGVR-------->-<--------------VGLLSSPAP-LGGQET | 476 |
| CACNA1H | --------RSLRLYARW-QSRW-------->-<--------------RK-KVDPSA-VQGQGP | 500 |
| CACNA1I | --------RALGLYQAL-QSRR-------->-<--------------QA-L-GPEAPAPAK-P | 477 |
| CACNA1S | ------------MDVEDFREG--------->-<--------------------------KL-- | 386 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V469I | c.1405G>A | Putative Benign | rs371911318 | SIFT: tolerated Polyphen: possibly damaging |