Paralogue Annotation for CACNA1C residue 52

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 52
Reference Amino Acid: W - Tryptophan
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 52

No paralogue variants have been mapped to residue 52 for CACNA1C.



CACNA1C---A-NAAAGLA----PEH--IPTPGAALS>W<QAAIDAARQAKLMGSAGNATISTVSST-QR81
CACNA1A-------VVGSG-GGRGAG--GSRQGGQ-->-<-----PGA-----------QRMYKQSMAQR55
CACNA1B---------RGG-GAGGAG--GPGPGGLQ->-<-----PGQ-----------RVLYKQSIAQR52
CACNA1D---R-LPLSGEG----PTSQPNSSKQTVLS>W<QAAIDAARQAKAAQTMSTSAPPPVGSLSQR83
CACNA1E--------SD-Q-SRNRQG--TPVPA---->-<-----SGQ-----------AAAYKQTKAQR46
CACNA1F-------GAGPG----PEWGLCPGP----P>-<------AV--------EGESSGASGLGTPK49
CACNA1G---M--RLND------LSG--AGGRP---->-<------G-----------PGSA-------E38
CACNA1H---A--ERGS------ELG--VSPSE---->-<------S-----------P-AA-------E57
CACNA1I---E--PGVTTE----QPG--P--RS--P->-<-----PS-----------SPPG-------L38
CACNA1S------------------------------>-<-------------------------SSPQD8
SCN10AGT-KKARE-KHRE-QKDQE--EKPRPQLDL>K<ACNQLPKFYGELPAELIGEPLEDLDPFYST88
SCN11AKEKKKSK-----D-QTGEV--PQPRPQLDL>K<ASRKLPKLYGDIPRELIGKPLEDLDPFYRN87
SCN1AKAKNPKPD----K-KDDDE--NGPKPNSDL>E<AGKNLPFIYGDIPPEMVSEPLEDLDPYYIN86
SCN2AKAKRPKQE----RKDEDDE--NGPKPNSDL>E<AGKSLPFIYGDIPPEMVSVPLEDLDPYYIN87
SCN3AKAKKPKKE----Q-DNDDE--NKPKPNSDL>E<AGKNLPFIYGDIPPEMVSEPLEDLDPYYIN86
SCN4AEARLQRNK----Q-MEIEE--PERKPRSDL>E<AGKNLPMIYGDPPPEVIGIPLEDLDPYYSN89
SCN5AQARGSTTLQESRE-GLPEE--EAPRPQLDL>Q<ASKKLPDLYGNPPQELIGEPLEDLDPFYST89
SCN7A-------H----N-EDHEE--EDLKPTPDL>E<VGKKLPFIYGNLSQGMVSEPLEDVDPYYYK75
SCN8AKLKKPPKADGSHR-EDDED--SKPKPNSDL>E<AGKSLPFIYGDIPQGLVAVPLEDFDPYYLT90
SCN9AKSKEPKEE----K-KDDDE--EAPKPSSDL>E<AGKQLPFIYGDIPPGMVSEPLEDLDPYYAD84
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Trp52Argc.154T>C UnknownSIFT:
Polyphen: