No paralogue variants have been mapped to residue 71 for CACNA1C.
CACNA1C | --IPTPGAALSWQAAIDAARQAKLMGSAGN>A<TISTVSST-QRKRQQYG-KPKKQGSTTATR | 99 |
CACNA1A | --GSRQGGQ--------PGA---------->-<QRMYKQSMAQRARTMAL-YNPIPVRQNCLT | 73 |
CACNA1B | --GPGPGGLQ-------PGQ---------->-<RVLYKQSIAQRARTMAL-YNPIPVKQNCFT | 70 |
CACNA1D | QPNSSKQTVLSWQAAIDAARQAKAAQTMST>S<APPPVGSLSQRKRQQYA-KSKKQGNSSNSR | 101 |
CACNA1E | --TPVPA----------SGQ---------->-<AAAYKQTKAQRARTMAL-YNPIPVRQNCFT | 64 |
CACNA1F | GLCPGP----P-------AV--------EG>E<SSGASGLGTPKRRNQHS-KHKTVAVASAQR | 67 |
CACNA1G | --AGGRP-----------G----------->P<GSA-------EKDPG-SADSEAEGLPYPAL | 56 |
CACNA1H | --VSPSE-----------S----------->P<-AA-------ERGAELG-ADEEQRVPYPAL | 75 |
CACNA1I | --P--RS--P-------PS----------->S<PPG-------LEEPL-D-G-ADPHVPHPDL | 54 |
CACNA1S | ------------------------------>-<------SSPQDEGLRKK-QPKKPVPEILPR | 26 |
SCN10A | --EKPRPQLDLKACNQLPKFYGELPAELIG>E<PLEDLDPFYSTHR-TFM-VLNKGRTISRFS | 105 |
SCN11A | --PQPRPQLDLKASRKLPKLYGDIPRELIG>K<PLEDLDPFYRNHK-TFM-VLNRKRTIYRFS | 104 |
SCN1A | --NGPKPNSDLEAGKNLPFIYGDIPPEMVS>E<PLEDLDPYYINKK-TFI-VLNKGKAIFRFS | 103 |
SCN2A | --NGPKPNSDLEAGKSLPFIYGDIPPEMVS>V<PLEDLDPYYINKK-TFI-VLNKGKAISRFS | 104 |
SCN3A | --NKPKPNSDLEAGKNLPFIYGDIPPEMVS>E<PLEDLDPYYINKK-TFI-VMNKGKAIFRFS | 103 |
SCN4A | --PERKPRSDLEAGKNLPMIYGDPPPEVIG>I<PLEDLDPYYSNKK-TFI-VLNKGKAIFRFS | 106 |
SCN5A | --EAPRPQLDLQASKKLPDLYGNPPQELIG>E<PLEDLDPFYSTQK-TFI-VLNKGKTIFRFS | 106 |
SCN7A | --EDLKPTPDLEVGKKLPFIYGNLSQGMVS>E<PLEDVDPYYYKKKNTFI-VLNKNRTIFRFN | 93 |
SCN8A | --SKPKPNSDLEAGKSLPFIYGDIPQGLVA>V<PLEDFDPYYLTQK-TFV-VLNRGKTLFRFS | 107 |
SCN9A | --EAPKPSSDLEAGKQLPFIYGDIPPGMVS>E<PLEDLDPYYADKK-TFI-VLNKGKTIFRFN | 101 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A71V | c.212C>T | Putative Benign | SIFT: Polyphen: |