No paralogue variants have been mapped to residue 445 for SCN5A.
SCN5A | EEK-EKRFQEAMEMLKK------------E>H<EALTIRGVDTVS------------------ | 457 |
SCN1A | EQK-EAEFQQMIEQLKK------------Q>Q<EAAQQAATATAS----EHSREPSAAGRL-- | 479 |
SCN2A | EQK-EAEFQQMLEQLKK------------Q>Q<EEAQAAAAAASA-----ESRDFSGAGGIGV | 482 |
SCN3A | EQK-EAEFQQMLEQLKK------------Q>Q<EEAQAVAAASAA------SRDFSGIGGLGE | 480 |
SCN4A | KEK-EEEFQQMLEKFKK------------H>Q<EELEKAKAAQAL------------------ | 491 |
SCN7A | KKI-EPKFQQTGKELQE------------G>N<ETDEAK------------------------ | 432 |
SCN8A | EQK-EAEFKAMLEQLKK------------Q>Q<EEAQAAAMATSAGTVSEDAIEEEGEEGG-G | 472 |
SCN9A | KQK-ELEFQQMLDRLKK------------E>Q<EEAEAIAAAAAE----YTSIRRSRIMGL-- | 458 |
SCN10A | EAK-EKKFQEALEMLRK------------E>Q<EVLAALGIDTTS------------------ | 441 |
SCN11A | EAK-EKMFQEAQQLLKE------------E>K<EALVAMGIDRSS------------------ | 444 |
CACNA1A | AFLKLRRQQQIERELNG------------Y>M<EWISKA-EE-----------------VILA | 405 |
CACNA1B | AFLKLRRQQQIERELNG------------Y>L<EWIFKA-EE-----------------VMLA | 401 |
CACNA1C | DFQKLREKQQLEEDLKG------------Y>L<DWITQA-ED-----------------IDPE | 450 |
CACNA1D | DFQKLREKQQLEEDLKG------------Y>L<DWITQA-ED-----------------IDPE | 451 |
CACNA1E | AFMKLRRQQQIERELNG------------Y>R<AWIDKA-EE-----------------VMLA | 396 |
CACNA1F | DFQKQREKQQMEEDLRG------------Y>L<DWITQA-EE-----------------LDME | 417 |
CACNA1G | REQRVRFLSNASTLASFSEPGSCYEELLKY>L<VYILRKAAR-------------RLAQVSRA | 457 |
CACNA1H | REQRARHLSNDSTLASFSEPGSCYEELLKY>V<GHIFRKVKR-------------RSLRLYAR | 481 |
CACNA1I | LEQRQRYLS-SSTVASYAEPGDCYEEIFQY>V<CHILRKAKR-------------RALGLYQA | 459 |
CACNA1S | TFQKLREKQQLDEDLRG------------Y>M<SWITQG-EV-----------------MDVE | 379 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H445D | c.1333C>G | Conflict | rs199473112 | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | AF | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609 | ||
Inherited Arrhythmia | BrS | Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol Genet. 2015 24(10):2757-63. doi: 10.1093/hmg/ddv036. 25650408 | |||
p.H445Q | c.1335C>A | Putative Benign | SIFT: Polyphen: |