No paralogue variants have been mapped to residue 636 for SCN5A.
SCN5A | P-------------VMLEHPP--DTTTPSE>E<PGGPQMLTSQAPCVD-GFEEPGARQR-A-L | 663 |
SCN1A | E-------------VIIDKPATDDNGTTTE>T<EMRKRRSSSFHVSMD-FLEDPSQRQR-A-M | 714 |
SCN2A | E------------------------GTTTE>T<EIRKRRSSSYHVSMD-LLEDPTSRQR-A-M | 705 |
SCN3A | E------------------------GTTTE>T<EVRKRRLSSYQISME-MLEDSSGRQR-A-V | 706 |
SCN4A | ------------------------------>-<----------------E---KGAPRQ-S-S | 524 |
SCN7A | ---------------------------TIQ>I<EMKKRSPISTDTSLD-VLEDATLRHK---- | 461 |
SCN8A | E------------------------A-TTE>V<EIKKKGPGSLLVSMD-QLASYGRKDR-I-N | 698 |
SCN9A | E-------------G-----------TTNQ>I<H-KKRRCSSYLLSED-MLNDPNLRQR-A-M | 679 |
SCN10A | P----------------------GAVDVSA>F<D---AGQKKTFLSAE-YLDEPFRAQR-A-M | 611 |
SCN11A | ------------------------------>-<--KRLSQNLSLDHFD-EHGDPLQRQR-A-L | 523 |
CACNA1A | --------------------------D--->-<------LLNPEEAED-QLA----DIA-S-V | 449 |
CACNA1B | --------------------------D--->-<------LIHAEEGED-RFA----DLC-A-V | 445 |
CACNA1C | --------------------------E--->-<------SVNTENVAG-G-D----IEGEN-C | 489 |
CACNA1D | --------------------------E--->-<------SVNTENVSG-EGE----NRG-C-C | 489 |
CACNA1E | --------------------------E--->-<------AMTRDSSDE-HCV----DIS-S-V | 438 |
CACNA1F | --------------------------T--->-<------RS-THSTSSHASL----P-A-SDT | 475 |
CACNA1G | ETQSTGACQS-----SC--KISSPCLK--->-<------ADSGACGPD-SCP----YCA-R-A | 673 |
CACNA1H | GEHGLGQAPGHLSGLSV--PCPLPSPP--->-<------AGTLTCELK-SCP----YCT-R-A | 706 |
CACNA1I | ------------------------------>-<------------DPA-SCP----CCQ-H-E | 559 |
CACNA1S | --------------------------E--->-<------SLY-EI------------------ | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E636K | c.1906G>A | Putative Benign | SIFT: Polyphen: |