No paralogue variants have been mapped to residue 624 for SCN5A.
SCN5A | -PEAT-SPGSHLLRP-------------VM>L<EHPP--DTTTPSEEPGGPQMLTSQAPCVD- | 651 |
SCN1A | -SVPT-SPVGQLLPE-------------VI>I<DKPATDDNGTTTETEMRKRRSSSFHVSMD- | 702 |
SCN2A | -STLT-SA-GQLLPE--------------->-<--------GTTTETEIRKRRSSSYHVSMD- | 693 |
SCN3A | -SALT-SPTGQLPPE--------------->-<--------GTTTETEVRKRRLSSYQISME- | 694 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<----------TIQIEMKKRSPISTDTSLD- | 451 |
SCN8A | -GSHI---GGRLLPE--------------->-<--------A-TTEVEIKKKGPGSLLVSMD- | 686 |
SCN9A | -SALM-LPNGQLLPE-------------G->-<---------TTNQIH-KKRRCSSYLLSED- | 667 |
SCN10A | -DEHQPPPT-SELAP--------------->-<------GAVDVSAFD---AGQKKTFLSAE- | 599 |
SCN11A | -------------T---------------->-<----------------KRLSQNLSLDHFD- | 511 |
CACNA1A | ------------------------------>-<---------D----------LLNPEEAED- | 441 |
CACNA1B | ------------------------------>-<---------D----------LIHAEEGED- | 437 |
CACNA1C | ------------------------------>-<---------E----------SVNTENVAG- | 481 |
CACNA1D | ------------------------------>-<---------E----------SVNTENVSG- | 481 |
CACNA1E | ------------------------------>-<---------E----------AMTRDSSDE- | 430 |
CACNA1F | ------------------------------>-<---------T----------RS-THSTSSH | 467 |
CACNA1G | -PPGPY-SSMHKLLETQSTGACQS-----S>C<--KISSPCLK----------ADSGACGPD- | 665 |
CACNA1H | NSPDPY-EKIPHVVGEHGLGQAPGHLSGLS>V<--PCPLPSPP----------AGTLTCELK- | 698 |
CACNA1I | ------------------------------>-<--------------------------DPA- | 551 |
CACNA1S | ------------------------------>-<---------E----------SLY-EI---- | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Leu624Ile | c.1870C>A | Unknown | SIFT: Polyphen: |