No paralogue variants have been mapped to residue 26 for CACNA1C.
CACNA1C | YIPEENHQGSNYGS------------PR-P>A<HANMN--------A-NAAAGLA----PEH- | 42 |
CACNA1A | D----EM-PARYGG------------GGSG>A<AAGV-------------VVGSG-GGRGAG- | 34 |
CACNA1B | D----EL-GGRYGG------------PGGG>E<RA-----------------RGG-GAGGAG- | 30 |
CACNA1D | MMKKMQHQRQQQAD--------H--ANE-A>N<YARGT--------R-LPLSGEG----PTSQ | 42 |
CACNA1E | E----AV-VARPGS---------------G>D<GD----------------SD-Q-SRNRQG- | 27 |
CACNA1F | ----GG----KDTT------------PE-P>S<PAN--------------GAGPG----PEWG | 27 |
CACNA1G | A-------------GAEESGQP-R-S---->-<----F--------M--RLND------LSG- | 27 |
CACNA1H | E--V-RV-P--LGAPPPGPAALVGASPESP>G<APGRE--------A--ERGS------ELG- | 47 |
CACNA1I | A-------------SPPSSSAAAPAA---->-<-------------E--PGVTTE----QPG- | 27 |
CACNA1S | ------------------------------>-<------------------------------ | |
SCN10A | I-------------GSLETNNFRRFTPESL>V<EIEKQIAAKQGT-KKARE-KHRE-QKDQE- | 48 |
SCN11A | V-------------IFPDERNFRPFTSDSL>A<AIEKRIAIQ-KEKKKSK-----D-QTGEV- | 47 |
SCN1A | L-------------VPPGPDSFNFFTRESL>A<AIERRIAEE-KAKNPKPD----K-KDDDE- | 46 |
SCN2A | L-------------VPPGPDSFRFFTRESL>A<AIEQRIAEE-KAKRPKQE----RKDEDDE- | 47 |
SCN3A | L-------------VPPGPESFRLFTRESL>A<AIEKRAAEE-KAKKPKKE----Q-DNDDE- | 46 |
SCN4A | L-------------VPLGPECLRPFTRESL>A<AIEQRAVEE-EARLQRNK----Q-MEIEE- | 49 |
SCN5A | L-------------LPRGTSSFRRFTRESL>A<AIEKRMAEK-QARGSTTLQESRE-GLPEE- | 49 |
SCN7A | L-------------ASPEPKGLVPFTKESF>E<LIKQHIAKT--------H----N-EDHEE- | 35 |
SCN8A | L-------------APPGPDSFKPFTPESL>A<NIERRIAES-KLKKPPKADGSHR-EDDED- | 50 |
SCN9A | L-------------PPPGPQSFVHFTKQSL>A<LIEQRIAER-KSKEPKEE----K-KDDDE- | 44 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A26T | c.76G>A | Putative Benign | rs369483452 | SIFT: deleterious Polyphen: benign |