Paralogue Annotation for CACNA1C residue 2122

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2122
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2122

No paralogue variants have been mapped to residue 2122 for CACNA1C.



CACNA1CRAGGEEDA----------GCV-----RARG>R<PSEEELQDSRVYVSSL2138
CACNA1A------------------------------>-<--RSPSEGREHMAHRQ2261
CACNA1BVPNGYHCTLG-LS--------------SGG>R<--ARHSYHHPDQDHWC2340
CACNA1DDFGPGYSD----------E-E-----PDPG>R<-DEEDLADEMICITTL2181
CACNA1EMPNGHYRRRR-RG-----GPG-----PGMM>C<GAVNNLLSDTEEDDKC2313
CACNA1F----LYSD----------E-E-----SILS>R<FDEEDLGDEMACVHAL1977
CACNA1G------------------------------>-<---------------P2377
CACNA1HMPVGDPPEKRRGLYLTVPQ-CPLEKPGSPS>A<--TPA-PG-GGADDPV2353
CACNA1IPLAPP--------------------PQPLP>G<--ELE-PGDAASKRKR2223
CACNA1S--------------------G-----SSLG>S<LDQHQGSQETLIPPRL1873
SCN10A------------------------------>-<------TSMELIAPGP1956
SCN11A------------------------------>-<---------------D1791
SCN1A------------------------------>-<------KG-------K2009
SCN2A------------------------------>-<------KGKDIRESKK2005
SCN3A------------------------------>-<------KGKEVRENQK2000
SCN4A------------------------------>-<------VRPGVKESLV1836
SCN5A------------------------------>-<--DFPPSPDRDRESIV2016
SCN7A------------------------------>-<-----------IQSQI1682
SCN8A------------------------------>-<------RQKEVRESKC1980
SCN9A------------------------------>-<------KGKDSKESKK1977
cons                              > <                

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2122Gc.6364C>G Putative BenignSIFT: tolerated
Polyphen: