No paralogue variants have been mapped to residue 449 for SCN5A.
| SCN5A | EKRFQEAMEMLKK------------EHEAL>T<IRGVDTVS---------------------R | 458 |
| SCN1A | EAEFQQMIEQLKK------------QQEAA>Q<QAATATAS----EHSREPSAAGRL----SD | 481 |
| SCN2A | EAEFQQMLEQLKK------------QQEEA>Q<AAAAAASA-----ESRDFSGAGGIGVF-SE | 485 |
| SCN3A | EAEFQQMLEQLKK------------QQEEA>Q<AVAAASAA------SRDFSGIGGLGEL-LE | 483 |
| SCN4A | EEEFQQMLEKFKK------------HQEEL>E<KAKAAQAL---------------------- | 491 |
| SCN7A | EPKFQQTGKELQE------------GNETD>E<AK---------------------------- | 432 |
| SCN8A | EAEFKAMLEQLKK------------QQEEA>Q<AAAMATSAGTVSEDAIEEEGEEGG-GS-PR | 475 |
| SCN9A | ELEFQQMLDRLKK------------EQEEA>E<AIAAAAAE----YTSIRRSRIMGL----SE | 460 |
| SCN10A | EKKFQEALEMLRK------------EQEVL>A<ALGIDTTS---------------------L | 442 |
| SCN11A | EKMFQEAQQLLKE------------EKEAL>V<AMGIDRSS---------------------L | 445 |
| CACNA1A | LRRQQQIERELNG------------YMEWI>S<KA-EE-----------------VILAEDET | 409 |
| CACNA1B | LRRQQQIERELNG------------YLEWI>F<KA-EE-----------------VMLAEEDR | 405 |
| CACNA1C | LREKQQLEEDLKG------------YLDWI>T<QA-ED-----------------IDPENEDE | 454 |
| CACNA1D | LREKQQLEEDLKG------------YLDWI>T<QA-ED-----------------IDPENEEE | 455 |
| CACNA1E | LRRQQQIERELNG------------YRAWI>D<KA-EE-----------------VMLAEENK | 400 |
| CACNA1F | QREKQQMEEDLRG------------YLDWI>T<QA-EE-----------------LDMEDPSA | 421 |
| CACNA1G | VRFLSNASTLASFSEPGSCYEELLKYLVYI>L<RKAAR-------------RLAQVSRA--AG | 459 |
| CACNA1H | ARHLSNDSTLASFSEPGSCYEELLKYVGHI>F<RKVKR-------------RSLRLYARW-QS | 484 |
| CACNA1I | QRYLS-SSTVASYAEPGDCYEEIFQYVCHI>L<RKAKR-------------RALGLYQAL-QS | 462 |
| CACNA1S | LREKQQLDEDLRG------------YMSWI>T<QG-EV-----------------MDVEDFRE | 383 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T449A | c.1345A>G | Putative Benign | rs199473571 | 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 | |||
| 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 | ||||