No paralogue variants have been mapped to residue 479 for CACNA1C.
CACNA1C | -------------E----------SVNTEN>V<AG-G-D----IEGEN-CG------------ | 490 |
CACNA1A | -------------D----------LLNPEE>A<ED-QLA----DIA-S-VG------------ | 450 |
CACNA1B | -------------D----------LIHAEE>G<ED-RFA----DLC-A-VG------------ | 446 |
CACNA1D | -------------E----------SVNTEN>V<SG-EGE----NRG-C-CGSLWCWWR----- | 497 |
CACNA1E | -------------E----------AMTRDS>S<DE-HCV----DIS-S-VG------------ | 439 |
CACNA1F | -------------T----------RS-THS>T<SSHASL----P-A-SDTGSMTETQG----- | 483 |
CACNA1G | --SC--KISSPCLK----------ADSGAC>G<PD-SCP----YCA-R-AG-----AG----- | 676 |
CACNA1H | GLSV--PCPLPSPP----------AGTLTC>E<LK-SCP----YCT-R-AL-----ED-P--- | 710 |
CACNA1I | ------------------------------>D<PA-SCP----CCQ-H-ED-----GR-RPSG | 566 |
CACNA1S | -------------E----------SLY-EI>-<------------------------------ | 401 |
SCN10A | ----------GAVDVSAFD---AGQKKTFL>S<AE-YLDEPFRAQR-A-MSVVSIITSV---- | 620 |
SCN11A | --------------------KRLSQNLSLD>H<FD-EHGDPLQRQR-A-LSAVSILTIT---- | 532 |
SCN1A | -VIIDKPATDDNGTTTETEMRKRRSSSFHV>S<MD-FLEDPSQRQR-A-MSIASILTNT---- | 723 |
SCN2A | ------------GTTTETEIRKRRSSSYHV>S<MD-LLEDPTSRQR-A-MSIASILTNT---- | 714 |
SCN3A | ------------GTTTETEVRKRRLSSYQI>S<ME-MLEDSSGRQR-A-VSIASILTNT---- | 715 |
SCN4A | ------------------------------>-<---E---KGAPRQ-S-SSGDSGISDA---- | 533 |
SCN5A | -VMLEHPP--DTTTPSEEPGGPQMLTSQAP>C<VD-GFEEPGARQR-A-LSAVSVLTSA---- | 672 |
SCN7A | --------------TIQIEMKKRSPISTDT>S<LD-VLEDATLRHK----------------- | 461 |
SCN8A | ------------A-TTEVEIKKKGPGSLLV>S<MD-QLASYGRKDR-I-NSIMSVVTNTL--- | 708 |
SCN9A | -G-----------TTNQIH-KKRRCSSYLL>S<ED-MLNDPNLRQR-A-MSRASILTNT---- | 688 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V479M | c.1435G>A | Putative Benign | SIFT: Polyphen: |