No paralogue variants have been mapped to residue 52 for CACNA1C.
CACNA1C | ---A-NAAAGLA----PEH--IPTPGAALS>W<QAAIDAARQAKLMGSAGNATISTVSST-QR | 81 |
CACNA1A | -------VVGSG-GGRGAG--GSRQGGQ-->-<-----PGA-----------QRMYKQSMAQR | 55 |
CACNA1B | ---------RGG-GAGGAG--GPGPGGLQ->-<-----PGQ-----------RVLYKQSIAQR | 52 |
CACNA1D | ---R-LPLSGEG----PTSQPNSSKQTVLS>W<QAAIDAARQAKAAQTMSTSAPPPVGSLSQR | 83 |
CACNA1E | --------SD-Q-SRNRQG--TPVPA---->-<-----SGQ-----------AAAYKQTKAQR | 46 |
CACNA1F | -------GAGPG----PEWGLCPGP----P>-<------AV--------EGESSGASGLGTPK | 49 |
CACNA1G | ---M--RLND------LSG--AGGRP---->-<------G-----------PGSA-------E | 38 |
CACNA1H | ---A--ERGS------ELG--VSPSE---->-<------S-----------P-AA-------E | 57 |
CACNA1I | ---E--PGVTTE----QPG--P--RS--P->-<-----PS-----------SPPG-------L | 38 |
CACNA1S | ------------------------------>-<-------------------------SSPQD | 8 |
SCN10A | GT-KKARE-KHRE-QKDQE--EKPRPQLDL>K<ACNQLPKFYGELPAELIGEPLEDLDPFYST | 88 |
SCN11A | KEKKKSK-----D-QTGEV--PQPRPQLDL>K<ASRKLPKLYGDIPRELIGKPLEDLDPFYRN | 87 |
SCN1A | KAKNPKPD----K-KDDDE--NGPKPNSDL>E<AGKNLPFIYGDIPPEMVSEPLEDLDPYYIN | 86 |
SCN2A | KAKRPKQE----RKDEDDE--NGPKPNSDL>E<AGKSLPFIYGDIPPEMVSVPLEDLDPYYIN | 87 |
SCN3A | KAKKPKKE----Q-DNDDE--NKPKPNSDL>E<AGKNLPFIYGDIPPEMVSEPLEDLDPYYIN | 86 |
SCN4A | EARLQRNK----Q-MEIEE--PERKPRSDL>E<AGKNLPMIYGDPPPEVIGIPLEDLDPYYSN | 89 |
SCN5A | QARGSTTLQESRE-GLPEE--EAPRPQLDL>Q<ASKKLPDLYGNPPQELIGEPLEDLDPFYST | 89 |
SCN7A | -------H----N-EDHEE--EDLKPTPDL>E<VGKKLPFIYGNLSQGMVSEPLEDVDPYYYK | 75 |
SCN8A | KLKKPPKADGSHR-EDDED--SKPKPNSDL>E<AGKSLPFIYGDIPQGLVAVPLEDFDPYYLT | 90 |
SCN9A | KSKEPKEE----K-KDDDE--EAPKPSSDL>E<AGKQLPFIYGDIPPGMVSEPLEDLDPYYAD | 84 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Trp52Arg | c.154T>C | Unknown | SIFT: Polyphen: |