No paralogue variants have been mapped to residue 630 for SCN5A.
SCN5A | GSHLLRP-------------VMLEHPP--D>T<TTPSEEPGGPQMLTSQAPCVD-GFEEPGAR | 659 |
SCN1A | VGQLLPE-------------VIIDKPATDD>N<GTTTETEMRKRRSSSFHVSMD-FLEDPSQR | 710 |
SCN2A | -GQLLPE----------------------->-<GTTTETEIRKRRSSSYHVSMD-LLEDPTSR | 701 |
SCN3A | TGQLPPE----------------------->-<GTTTETEVRKRRLSSYQISME-MLEDSSGR | 702 |
SCN4A | ------------------------------>-<----------------------E---KGAP | 520 |
SCN7A | ------------------------------>-<--TIQIEMKKRSPISTDTSLD-VLEDATLR | 459 |
SCN8A | GGRLLPE----------------------->-<A-TTEVEIKKKGPGSLLVSMD-QLASYGRK | 694 |
SCN9A | NGQLLPE-------------G--------->-<-TTNQIH-KKRRCSSYLLSED-MLNDPNLR | 675 |
SCN10A | T-SELAP----------------------G>A<VDVSAFD---AGQKKTFLSAE-YLDEPFRA | 607 |
SCN11A | -----T------------------------>-<--------KRLSQNLSLDHFD-EHGDPLQR | 519 |
CACNA1A | ------------------------------>-<-D----------LLNPEEAED-QLA----D | 445 |
CACNA1B | ------------------------------>-<-D----------LIHAEEGED-RFA----D | 441 |
CACNA1C | ------------------------------>-<-E----------SVNTENVAG-G-D----I | 484 |
CACNA1D | ------------------------------>-<-E----------SVNTENVSG-EGE----N | 485 |
CACNA1E | ------------------------------>-<-E----------AMTRDSSDE-HCV----D | 434 |
CACNA1F | ------------------------------>-<-T----------RS-THSTSSHASL----P | 471 |
CACNA1G | SMHKLLETQSTGACQS-----SC--KISSP>C<LK----------ADSGACGPD-SCP----Y | 669 |
CACNA1H | KIPHVVGEHGLGQAPGHLSGLSV--PCPLP>S<PP----------AGTLTCELK-SCP----Y | 702 |
CACNA1I | ------------------------------>-<------------------DPA-SCP----C | 555 |
CACNA1S | ------------------------------>-<-E----------SLY-EI------------ | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T630M | c.1889C>T | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology. 2014 146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054. 24613995 |