Paralogue Annotation for CACNA1C residue 901

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 901
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 901

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AY1246CHemiplegic migraineMedium9 18644040, 19189122
SCN5AW1206CSudden cardiac deathMedium9 18071069

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.



CACNA1CV-PMPEASAFFIFSSNNRFRLQCHRIVNDT>I<FTNLILFFILLSSISLAAEDPV-QHTSFRN930
CACNA1AK-PMPPYSSMFILSTTNPLRRLCHYILNLR>Y<FEMCILMVIAMSSIALAAEDPV-QPNAPRN1274
CACNA1BR-PIVPYSSMFCLSPTNLLRRFCHYIVTMR>Y<FEVVILVVIALSSIALAAEDPV-RTDSPRN1181
CACNA1DA-PIPEGSAFFILSKTNPIRVGCHKLINHH>I<FTNLILVFIMLSSAALAAEDPI-RSHSFRN936
CACNA1EK-AMVPHSSMFIFSTTNPIRRACHYIVNLR>Y<FEMCILLVIAASSIALAAEDPV-LTNSERN1183
CACNA1FV-PIPEGSAFFCLSQTNPLRKGCHTLIHHH>V<FTNLILVFIILSSVSLAAEDPI-RAHSFRN901
CACNA1GCLERDSWSAY-IFPPQSRFRLLCHRIITHK>M<FDHVVLVIIFLNCITIAMERPKIDPHSAER1307
CACNA1HCRSREAWALY-LFSPQNRFRVSCQKVITHK>M<FDHVVLVFIFLNCVTIALERPDIDPGSTER1325
CACNA1ICEVREDWSVY-LFSPENRFRVLCQTIIAHK>L<FDYVVLAFIFLNCITIALERPQIEAGSTER1201
CACNA1SV-PIPEASSFFIFSPTNKIRVLCHRIVNAT>W<FTNFILLFILLSSAALAAEDPI-RADSMRN829
SCN10ACKLDTTKSP---WDVGWQVRKTCYRIVEHS>W<FESFIIFMILLSSGSLAFEDYYLDQKPTVK1183
SCN11ACSVDKRKPP---WVIWWNLRKTCYQIVKHS>W<FESFIIFVILLSSGALIFEDVHLENQPKIQ1087
SCN1ACQINVEEGR---GKQWWNLRRTCFRIVEHN>W<FETFIVFMILLSSGALAFEDIYIDQRKTIK1249
SCN2ACQISIEEGK---GKLWWNLRKTCYKIVEHN>W<FETFIVFMILLSSGALAFEDIYIEQRKTIK1239
SCN3ACQVSTEEGK---GKIWWNLRKTCYSIVEHN>W<FETFIVFMILLSSGALAFEDIYIEQRKTIK1237
SCN4ALYVDISQGR---GKKWWTLRRACFKIVEHN>W<FETFIVFMILLSSGALAFEDIYIEQRRVIR1062
SCN5ACAVDTTQAP---GKVWWRLRKTCYHIVEHS>W<FETFIIFMILLSSGALAFEDIYLEERKTIK1236
SCN7AGQISGASKK---GKIWQNIRKTCCKIVENN>W<FKCFIGLVTLLSTGTLAFEDIYMDQRKTIK965
SCN8ACQVNIEEGL---GKSWWILRKTCFLIVEHN>W<FETFIIFMILLSSGALAFEDIYIEQRKTIR1229
SCN9ACQVNIESGK---GKIWWNIRKTCYKIVEHS>W<FESFIVLMILLSSGALAFEDIYIERKKTIK1212
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I901Mc.2703C>G Putative BenignSIFT:
Polyphen: