No paralogue variants have been mapped to residue 447 for SCN5A.
SCN5A | K-EKRFQEAMEMLKK------------EHE>A<LTIRGVDTVS-------------------- | 457 |
SCN1A | K-EAEFQQMIEQLKK------------QQE>A<AQQAATATAS----EHSREPSAAGRL---- | 479 |
SCN2A | K-EAEFQQMLEQLKK------------QQE>E<AQAAAAAASA-----ESRDFSGAGGIGVF- | 483 |
SCN3A | K-EAEFQQMLEQLKK------------QQE>E<AQAVAAASAA------SRDFSGIGGLGEL- | 481 |
SCN4A | K-EEEFQQMLEKFKK------------HQE>E<LEKAKAAQAL-------------------- | 491 |
SCN7A | I-EPKFQQTGKELQE------------GNE>T<DEAK-------------------------- | 432 |
SCN8A | K-EAEFKAMLEQLKK------------QQE>E<AQAAAMATSAGTVSEDAIEEEGEEGG-GS- | 473 |
SCN9A | K-ELEFQQMLDRLKK------------EQE>E<AEAIAAAAAE----YTSIRRSRIMGL---- | 458 |
SCN10A | K-EKKFQEALEMLRK------------EQE>V<LAALGIDTTS-------------------- | 441 |
SCN11A | K-EKMFQEAQQLLKE------------EKE>A<LVAMGIDRSS-------------------- | 444 |
CACNA1A | LKLRRQQQIERELNG------------YME>W<ISKA-EE-----------------VILAED | 407 |
CACNA1B | LKLRRQQQIERELNG------------YLE>W<IFKA-EE-----------------VMLAEE | 403 |
CACNA1C | QKLREKQQLEEDLKG------------YLD>W<ITQA-ED-----------------IDPENE | 452 |
CACNA1D | QKLREKQQLEEDLKG------------YLD>W<ITQA-ED-----------------IDPENE | 453 |
CACNA1E | MKLRRQQQIERELNG------------YRA>W<IDKA-EE-----------------VMLAEE | 398 |
CACNA1F | QKQREKQQMEEDLRG------------YLD>W<ITQA-EE-----------------LDMEDP | 419 |
CACNA1G | QRVRFLSNASTLASFSEPGSCYEELLKYLV>Y<ILRKAAR-------------RLAQVSRA-- | 457 |
CACNA1H | QRARHLSNDSTLASFSEPGSCYEELLKYVG>H<IFRKVKR-------------RSLRLYARW- | 482 |
CACNA1I | QRQRYLS-SSTVASYAEPGDCYEEIFQYVC>H<ILRKAKR-------------RALGLYQAL- | 460 |
CACNA1S | QKLREKQQLDEDLRG------------YMS>W<ITQG-EV-----------------MDVEDF | 381 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A447G | c.1340C>G | Putative Benign | rs199473113 | SIFT: tolerated Polyphen: possibly damaging | |
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 | ||||
Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |