Paralogue Annotation for CACNA1C residue 916

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 916
Reference Amino Acid: S - Serine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 916

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA1221VLong QT syndrome Medium9 22360817

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CNNRFRLQCHRIVNDTIFTNLILFFILLSSI>S<LAAEDPV-QHTSFRNHILFYFDIVFTTIFT945
CACNA1ATNPLRRLCHYILNLRYFEMCILMVIAMSSI>A<LAAEDPV-QPNAPRNNVLRYFDYVFTGVFT1289
CACNA1BTNLLRRFCHYIVTMRYFEVVILVVIALSSI>A<LAAEDPV-RTDSPRNNALKYLDYIFTGVFT1196
CACNA1DTNPIRVGCHKLINHHIFTNLILVFIMLSSA>A<LAAEDPI-RSHSFRNTILGYFDYAFTAIFT951
CACNA1ETNPIRRACHYIVNLRYFEMCILLVIAASSI>A<LAAEDPV-LTNSERNKVLRYFDYVFTGVFT1198
CACNA1FTNPLRKGCHTLIHHHVFTNLILVFIILSSV>S<LAAEDPI-RAHSFRNHILGYFDYAFTSIFT916
CACNA1GQSRFRLLCHRIITHKMFDHVVLVIIFLNCI>T<IAMERPKIDPHSAERIFLTLSNYIFTAVFL1322
CACNA1HQNRFRVSCQKVITHKMFDHVVLVFIFLNCV>T<IALERPDIDPGSTERVFLSVSNYIFTAIFV1340
CACNA1IENRFRVLCQTIIAHKLFDYVVLAFIFLNCI>T<IALERPQIEAGSTERIFLTVSNYIFTAIFV1216
CACNA1STNKIRVLCHRIVNATWFTNFILLFILLSSA>A<LAAEDPI-RADSMRNQILKHFDIGFTSVFT844
SCN10AGWQVRKTCYRIVEHSWFESFIIFMILLSSG>S<LAFEDYYLDQKPTVKALLEYTDRVFTFIFV1198
SCN11AWWNLRKTCYQIVKHSWFESFIIFVILLSSG>A<LIFEDVHLENQPKIQELLNCTDIIFTHIFI1102
SCN1AWWNLRRTCFRIVEHNWFETFIVFMILLSSG>A<LAFEDIYIDQRKTIKTMLEYADKVFTYIFI1264
SCN2AWWNLRKTCYKIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRKTIKTMLEYADKVFTYIFI1254
SCN3AWWNLRKTCYSIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRKTIKTMLEYADKVFTYIFI1252
SCN4AWWTLRRACFKIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRRVIRTILEYADKVFTYIFI1077
SCN5AWWRLRKTCYHIVEHSWFETFIIFMILLSSG>A<LAFEDIYLEERKTIKVLLEYADKMFTYVFV1251
SCN7AWQNIRKTCCKIVENNWFKCFIGLVTLLSTG>T<LAFEDIYMDQRKTIKILLEYADMIFTYIFI980
SCN8AWWILRKTCFLIVEHNWFETFIIFMILLSSG>A<LAFEDIYIEQRKTIRTILEYADKVFTYIFI1244
SCN9AWWNIRKTCYKIVEHSWFESFIVLMILLSSG>A<LAFEDIYIERKKTIKIILEYADKIFTYIFI1227
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 916 for CACNA1C.