Paralogue Annotation for CACNA1C residue 2023

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2023
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2023

No paralogue variants have been mapped to residue 2023 for CACNA1C.



CACNA1CAETTPGGGGSSAARRVRPVSLMVPSQA--->G<APGRQFHGSASSLVEA-----VL--ISEG-2045
CACNA1A------------------------------>-<------------------------------
CACNA1B----------------GAQTSLPAFSP--->G<RLSRGLSEHNA-----LLQRDPL--SQPL-2249
CACNA1DYTDEP----DISYRTFTPASLTVPSSF--->R<NKNSDKQRSADSLVEA-----VL--ISEG-2090
CACNA1E----------------PPADGSEEGSP--->L<T-SQALESNNACLTESSNSPHPQ--QSQH-2221
CACNA1F---------SGPLRTFT--CLHVPGTH--->S<DPSHGKRGSADSLVEA-----VL--ISEG-1907
CACNA1GRHSIAVSCLDSGSQPHLGTDPSNLGG---Q>P<LGGPGSRPKKKLSPPS-----IT--IDPP-2316
CACNA1HRPSAELGSGEP-------GEAKAWGP---E>A<EPALGARRKKKMSPPC-----I--SVEPPA2198
CACNA1IRSHSSGGSTSPGCTHHDSMDPSDEEGRGGA>G<GGGAGSEHSETLSSLS-----LTSLFCPP-2139
CACNA1S--ETP----------------HSRSTR--->E<NTSRCSAPATALLIQK-----AL--VRGG-1796
SCN10A------------------------------>-<-----------A------------------1946
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A------------------------------>-<-----------A------------------2002
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2023Ec.6068G>A Putative BenignSIFT: tolerated
Polyphen: benign