No paralogue variants have been mapped to residue 627 for SCN5A.
SCN5A | AT-SPGSHLLRP-------------VMLEH>P<P--DTTTPSEEPGGPQMLTSQAPCVD-GFE | 654 |
SCN1A | PT-SPVGQLLPE-------------VIIDK>P<ATDDNGTTTETEMRKRRSSSFHVSMD-FLE | 705 |
SCN2A | LT-SA-GQLLPE------------------>-<-----GTTTETEIRKRRSSSYHVSMD-LLE | 696 |
SCN3A | LT-SPTGQLPPE------------------>-<-----GTTTETEVRKRRLSSYQISME-MLE | 697 |
SCN4A | ------------------------------>-<---------------------------E-- | 516 |
SCN7A | ------------------------------>-<-------TIQIEMKKRSPISTDTSLD-VLE | 454 |
SCN8A | HI---GGRLLPE------------------>-<-----A-TTEVEIKKKGPGSLLVSMD-QLA | 689 |
SCN9A | LM-LPNGQLLPE-------------G---->-<------TTNQIH-KKRRCSSYLLSED-MLN | 670 |
SCN10A | HQPPPT-SELAP------------------>-<---GAVDVSAFD---AGQKKTFLSAE-YLD | 602 |
SCN11A | ----------T------------------->-<-------------KRLSQNLSLDHFD-EHG | 514 |
CACNA1A | ------------------------------>-<------D----------LLNPEEAED-QLA | 444 |
CACNA1B | ------------------------------>-<------D----------LIHAEEGED-RFA | 440 |
CACNA1C | ------------------------------>-<------E----------SVNTENVAG-G-D | 483 |
CACNA1D | ------------------------------>-<------E----------SVNTENVSG-EGE | 484 |
CACNA1E | ------------------------------>-<------E----------AMTRDSSDE-HCV | 433 |
CACNA1F | ------------------------------>-<------T----------RS-THSTSSHASL | 470 |
CACNA1G | GPY-SSMHKLLETQSTGACQS-----SC-->K<ISSPCLK----------ADSGACGPD-SCP | 668 |
CACNA1H | DPY-EKIPHVVGEHGLGQAPGHLSGLSV-->P<CPLPSPP----------AGTLTCELK-SCP | 701 |
CACNA1I | ------------------------------>-<-----------------------DPA-SCP | 554 |
CACNA1S | ------------------------------>-<------E----------SLY-EI------- | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P627L | c.1880C>T | Inherited Arrhythmia | LQTS | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | LQTS | Congenital long QT 3 in the pediatric population. Am J Cardiol. 2012 109(10):1459-65. doi: 10.1016/j.amjcard.2012.01.36 22360817 |