No paralogue variants have been mapped to residue 73 for CACNA1C.
CACNA1C | IPTPGAALSWQAAIDAARQAKLMGSAGNAT>I<STVSST-QRKRQQYG-KPKKQGSTTATRPP | 101 |
CACNA1A | GSRQGGQ--------PGA-----------Q>R<MYKQSMAQRARTMAL-YNPIPVRQNCLTVN | 75 |
CACNA1B | GPGPGGLQ-------PGQ-----------R>V<LYKQSIAQRARTMAL-YNPIPVKQNCFTVN | 72 |
CACNA1D | NSSKQTVLSWQAAIDAARQAKAAQTMSTSA>P<PPVGSLSQRKRQQYA-KSKKQGNSSNSRPA | 103 |
CACNA1E | TPVPA----------SGQ-----------A>A<AYKQTKAQRARTMAL-YNPIPVRQNCFTVN | 66 |
CACNA1F | CPGP----P-------AV--------EGES>S<GASGLGTPKRRNQHS-KHKTVAVASAQRSP | 69 |
CACNA1G | AGGRP-----------G-----------PG>S<A-------EKDPG-SADSEAEGLPYPALAP | 58 |
CACNA1H | VSPSE-----------S-----------P->A<A-------ERGAELG-ADEEQRVPYPALAA | 77 |
CACNA1I | P--RS--P-------PS-----------SP>P<G-------LEEPL-D-G-ADPHVPHPDLAP | 56 |
CACNA1S | ------------------------------>-<----SSPQDEGLRKK-QPKKPVPEILPRPP | 28 |
SCN10A | EKPRPQLDLKACNQLPKFYGELPAELIGEP>L<EDLDPFYSTHR-TFM-VLNKGRTISRFSAT | 107 |
SCN11A | PQPRPQLDLKASRKLPKLYGDIPRELIGKP>L<EDLDPFYRNHK-TFM-VLNRKRTIYRFSAK | 106 |
SCN1A | NGPKPNSDLEAGKNLPFIYGDIPPEMVSEP>L<EDLDPYYINKK-TFI-VLNKGKAIFRFSAT | 105 |
SCN2A | NGPKPNSDLEAGKSLPFIYGDIPPEMVSVP>L<EDLDPYYINKK-TFI-VLNKGKAISRFSAT | 106 |
SCN3A | NKPKPNSDLEAGKNLPFIYGDIPPEMVSEP>L<EDLDPYYINKK-TFI-VMNKGKAIFRFSAT | 105 |
SCN4A | PERKPRSDLEAGKNLPMIYGDPPPEVIGIP>L<EDLDPYYSNKK-TFI-VLNKGKAIFRFSAT | 108 |
SCN5A | EAPRPQLDLQASKKLPDLYGNPPQELIGEP>L<EDLDPFYSTQK-TFI-VLNKGKTIFRFSAT | 108 |
SCN7A | EDLKPTPDLEVGKKLPFIYGNLSQGMVSEP>L<EDVDPYYYKKKNTFI-VLNKNRTIFRFNAA | 95 |
SCN8A | SKPKPNSDLEAGKSLPFIYGDIPQGLVAVP>L<EDFDPYYLTQK-TFV-VLNRGKTLFRFSAT | 109 |
SCN9A | EAPKPSSDLEAGKQLPFIYGDIPPGMVSEP>L<EDLDPYYADKK-TFI-VLNKGKTIFRFNAT | 103 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I73V | c.217A>G | Putative Benign | SIFT: Polyphen: |