No paralogue variants have been mapped to residue 623 for SCN5A.
SCN5A | --PEAT-SPGSHLLRP-------------V>M<LEHPP--DTTTPSEEPGGPQMLTSQAPCVD | 651 |
SCN1A | --SVPT-SPVGQLLPE-------------V>I<IDKPATDDNGTTTETEMRKRRSSSFHVSMD | 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-THSTSS | 466 |
CACNA1G | --PPGPY-SSMHKLLETQSTGACQS----->S<C--KISSPCLK----------ADSGACGPD | 665 |
CACNA1H | LNSPDPY-EKIPHVVGEHGLGQAPGHLSGL>S<V--PCPLPSPP----------AGTLTCELK | 698 |
CACNA1I | ------------------------------>-<---------------------------DPA | 551 |
CACNA1S | ------------------------------>-<----------E----------SLY-EI--- | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M623T | c.1868T>C | Putative Benign | SIFT: Polyphen: |