No paralogue variants have been mapped to residue 36 for CACNA1C.
CACNA1C | -------PR-PAHANMN--------A-NAA>A<GLA----PEH--IPTPGAALSWQAAIDAAR | 60 |
CACNA1A | -------GGSGAAAGV-------------V>V<GSG-GGRGAG--GSRQGGQ--------PGA | 44 |
CACNA1B | -------PGGGERA---------------->-<RGG-GAGGAG--GPGPGGLQ-------PGQ | 41 |
CACNA1D | ---H--ANE-ANYARGT--------R-LPL>S<GEG----PTSQPNSSKQTVLSWQAAIDAAR | 61 |
CACNA1E | ----------GDGD---------------->S<D-Q-SRNRQG--TPVPA----------SGQ | 35 |
CACNA1F | -------PE-PSPAN--------------G>A<GPG----PEWGLCPGP----P-------AV | 35 |
CACNA1G | GQP-R-S---------F--------M--RL>N<D------LSG--AGGRP-----------G- | 33 |
CACNA1H | AALVGASPESPGAPGRE--------A--ER>G<S------ELG--VSPSE-----------S- | 53 |
CACNA1I | SAAAPAA------------------E--PG>V<TTE----QPG--P--RS--P-------PS- | 33 |
CACNA1S | ------------------------------>-<------------------------------ | |
SCN10A | NNFRRFTPESLVEIEKQIAAKQGT-KKARE>-<KHRE-QKDQE--EKPRPQLDLKACNQLPKF | 66 |
SCN11A | RNFRPFTSDSLAAIEKRIAIQ-KEKKKSK->-<---D-QTGEV--PQPRPQLDLKASRKLPKL | 65 |
SCN1A | DSFNFFTRESLAAIERRIAEE-KAKNPKPD>-<---K-KDDDE--NGPKPNSDLEAGKNLPFI | 64 |
SCN2A | DSFRFFTRESLAAIEQRIAEE-KAKRPKQE>-<---RKDEDDE--NGPKPNSDLEAGKSLPFI | 65 |
SCN3A | ESFRLFTRESLAAIEKRAAEE-KAKKPKKE>-<---Q-DNDDE--NKPKPNSDLEAGKNLPFI | 64 |
SCN4A | ECLRPFTRESLAAIEQRAVEE-EARLQRNK>-<---Q-MEIEE--PERKPRSDLEAGKNLPMI | 67 |
SCN5A | SSFRRFTRESLAAIEKRMAEK-QARGSTTL>Q<ESRE-GLPEE--EAPRPQLDLQASKKLPDL | 67 |
SCN7A | KGLVPFTKESFELIKQHIAKT--------H>-<---N-EDHEE--EDLKPTPDLEVGKKLPFI | 53 |
SCN8A | DSFKPFTPESLANIERRIAES-KLKKPPKA>D<GSHR-EDDED--SKPKPNSDLEAGKSLPFI | 68 |
SCN9A | QSFVHFTKQSLALIEQRIAER-KSKEPKEE>-<---K-KDDDE--EAPKPSSDLEAGKQLPFI | 62 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A36V | c.107C>T | Putative Benign | SIFT: Polyphen: |