No paralogue variants have been mapped to residue 634 for SCN5A.
SCN5A | LRP-------------VMLEHPP--DTTTP>S<EEPGGPQMLTSQAPCVD-GFEEPGARQR-A | 662 |
SCN1A | LPE-------------VIIDKPATDDNGTT>T<ETEMRKRRSSSFHVSMD-FLEDPSQRQR-A | 713 |
SCN2A | LPE------------------------GTT>T<ETEIRKRRSSSYHVSMD-LLEDPTSRQR-A | 704 |
SCN3A | PPE------------------------GTT>T<ETEVRKRRLSSYQISME-MLEDSSGRQR-A | 705 |
SCN4A | ------------------------------>-<------------------E---KGAPRQ-S | 523 |
SCN7A | -----------------------------T>I<QIEMKKRSPISTDTSLD-VLEDATLRHK-- | 461 |
SCN8A | LPE------------------------A-T>T<EVEIKKKGPGSLLVSMD-QLASYGRKDR-I | 697 |
SCN9A | LPE-------------G-----------TT>N<QIH-KKRRCSSYLLSED-MLNDPNLRQR-A | 678 |
SCN10A | LAP----------------------GAVDV>S<AFD---AGQKKTFLSAE-YLDEPFRAQR-A | 610 |
SCN11A | -T---------------------------->-<----KRLSQNLSLDHFD-EHGDPLQRQR-A | 522 |
CACNA1A | ----------------------------D->-<--------LLNPEEAED-QLA----DIA-S | 448 |
CACNA1B | ----------------------------D->-<--------LIHAEEGED-RFA----DLC-A | 444 |
CACNA1C | ----------------------------E->-<--------SVNTENVAG-G-D----IEGEN | 488 |
CACNA1D | ----------------------------E->-<--------SVNTENVSG-EGE----NRG-C | 488 |
CACNA1E | ----------------------------E->-<--------AMTRDSSDE-HCV----DIS-S | 437 |
CACNA1F | ----------------------------T->-<--------RS-THSTSSHASL----P-A-S | 473 |
CACNA1G | LLETQSTGACQS-----SC--KISSPCLK->-<--------ADSGACGPD-SCP----YCA-R | 672 |
CACNA1H | VVGEHGLGQAPGHLSGLSV--PCPLPSPP->-<--------AGTLTCELK-SCP----YCT-R | 705 |
CACNA1I | ------------------------------>-<--------------DPA-SCP----CCQ-H | 558 |
CACNA1S | ----------------------------E->-<--------SLY-EI---------------- | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S634L | c.1901C>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.S634W | c.1901C>G | Putative Benign | SIFT: Polyphen: |