Paralogue Annotation for CACNA1C residue 931

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 931
Reference Amino Acid: H - Histidine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 931

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1250MGeneralized epilepsy with febrile seizures plusMedium8 19522081, 21719429, 26990884

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.



CACNA1CFTNLILFFILLSSISLAAEDPV-QHTSFRN>H<ILFYFDIVFTTIFTIEIALKMTAYGAFLHK961
CACNA1AFEMCILMVIAMSSIALAAEDPV-QPNAPRN>N<VLRYFDYVFTGVFTFEMVIKMIDLGLVLHQ1305
CACNA1BFEVVILVVIALSSIALAAEDPV-RTDSPRN>N<ALKYLDYIFTGVFTFEMVIKMIDLGLLLHP1212
CACNA1DFTNLILVFIMLSSAALAAEDPI-RSHSFRN>T<ILGYFDYAFTAIFTVEILLKMTTFGAFLHK967
CACNA1EFEMCILLVIAASSIALAAEDPV-LTNSERN>K<VLRYFDYVFTGVFTFEMVIKMIDQGLILQD1214
CACNA1FFTNLILVFIILSSVSLAAEDPI-RAHSFRN>H<ILGYFDYAFTSIFTVEILLKMTVFGAFLHR932
CACNA1GFDHVVLVIIFLNCITIAMERPKIDPHSAER>I<FLTLSNYIFTAVFLAEMTVKVVALGWCFGE1338
CACNA1HFDHVVLVFIFLNCVTIALERPDIDPGSTER>V<FLSVSNYIFTAIFVAEMMVKVVALGLLSGE1356
CACNA1IFDYVVLAFIFLNCITIALERPQIEAGSTER>I<FLTVSNYIFTAIFVGEMTLKVVSLGLYFGE1232
CACNA1SFTNFILLFILLSSAALAAEDPI-RADSMRN>Q<ILKHFDIGFTSVFTVEIVLKMTTYGAFLHK860
SCN10AFESFIIFMILLSSGSLAFEDYYLDQKPTVK>A<LLEYTDRVFTFIFVFEMLLKWVAYGF----1210
SCN11AFESFIIFVILLSSGALIFEDVHLENQPKIQ>E<LLNCTDIIFTHIFILEMVLKWVAFGF----1114
SCN1AFETFIVFMILLSSGALAFEDIYIDQRKTIK>T<MLEYADKVFTYIFILEMLLKWVAYGY----1276
SCN2AFETFIVFMILLSSGALAFEDIYIEQRKTIK>T<MLEYADKVFTYIFILEMLLKWVAYGF----1266
SCN3AFETFIVFMILLSSGALAFEDIYIEQRKTIK>T<MLEYADKVFTYIFILEMLLKWVAYGF----1264
SCN4AFETFIVFMILLSSGALAFEDIYIEQRRVIR>T<ILEYADKVFTYIFIMEMLLKWVAYGF----1089
SCN5AFETFIIFMILLSSGALAFEDIYLEERKTIK>V<LLEYADKMFTYVFVLEMLLKWVAYGF----1263
SCN7AFKCFIGLVTLLSTGTLAFEDIYMDQRKTIK>I<LLEYADMIFTYIFILEMLLKWMAYGF----992
SCN8AFETFIIFMILLSSGALAFEDIYIEQRKTIR>T<ILEYADKVFTYIFILEMLLKWTAYGF----1256
SCN9AFESFIVLMILLSSGALAFEDIYIERKKTIK>I<ILEYADKIFTYIFILEMLLKWIAYGY----1239
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 931 for CACNA1C.