No paralogue variants have been mapped to residue 637 for SCN5A.
SCN5A | -------------VMLEHPP--DTTTPSEE>P<GGPQMLTSQAPCVD-GFEEPGARQR-A-LS | 664 |
SCN1A | -------------VIIDKPATDDNGTTTET>E<MRKRRSSSFHVSMD-FLEDPSQRQR-A-MS | 715 |
SCN2A | ------------------------GTTTET>E<IRKRRSSSYHVSMD-LLEDPTSRQR-A-MS | 706 |
SCN3A | ------------------------GTTTET>E<VRKRRLSSYQISME-MLEDSSGRQR-A-VS | 707 |
SCN4A | ------------------------------>-<---------------E---KGAPRQ-S-SS | 525 |
SCN7A | --------------------------TIQI>E<MKKRSPISTDTSLD-VLEDATLRHK----- | 461 |
SCN8A | ------------------------A-TTEV>E<IKKKGPGSLLVSMD-QLASYGRKDR-I-NS | 699 |
SCN9A | -------------G-----------TTNQI>H<-KKRRCSSYLLSED-MLNDPNLRQR-A-MS | 680 |
SCN10A | ----------------------GAVDVSAF>D<---AGQKKTFLSAE-YLDEPFRAQR-A-MS | 612 |
SCN11A | ------------------------------>-<-KRLSQNLSLDHFD-EHGDPLQRQR-A-LS | 524 |
CACNA1A | -------------------------D---->-<-----LLNPEEAED-QLA----DIA-S-VG | 450 |
CACNA1B | -------------------------D---->-<-----LIHAEEGED-RFA----DLC-A-VG | 446 |
CACNA1C | -------------------------E---->-<-----SVNTENVAG-G-D----IEGEN-CG | 490 |
CACNA1D | -------------------------E---->-<-----SVNTENVSG-EGE----NRG-C-CG | 490 |
CACNA1E | -------------------------E---->-<-----AMTRDSSDE-HCV----DIS-S-VG | 439 |
CACNA1F | -------------------------T---->-<-----RS-THSTSSHASL----P-A-SDTG | 476 |
CACNA1G | TQSTGACQS-----SC--KISSPCLK---->-<-----ADSGACGPD-SCP----YCA-R-AG | 674 |
CACNA1H | EHGLGQAPGHLSGLSV--PCPLPSPP---->-<-----AGTLTCELK-SCP----YCT-R-AL | 707 |
CACNA1I | ------------------------------>-<-----------DPA-SCP----CCQ-H-ED | 560 |
CACNA1S | -------------------------E---->-<-----SLY-EI------------------- | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P637L | c.1910C>T | Inherited Arrhythmia | LQTS | rs199473135 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 |