Paralogue Annotation for CACNA1C residue 925

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 925
Reference Amino Acid: H - Histidine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 925

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE1231KLong QT syndromeMedium7 15840476

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.



CACNA1CIVNDTIFTNLILFFILLSSISLAAEDPV-Q>H<TSFRNHILFYFDIVFTTIFTIEIALKMTAY955
CACNA1AILNLRYFEMCILMVIAMSSIALAAEDPV-Q>P<NAPRNNVLRYFDYVFTGVFTFEMVIKMIDL1299
CACNA1BIVTMRYFEVVILVVIALSSIALAAEDPV-R>T<DSPRNNALKYLDYIFTGVFTFEMVIKMIDL1206
CACNA1DLINHHIFTNLILVFIMLSSAALAAEDPI-R>S<HSFRNTILGYFDYAFTAIFTVEILLKMTTF961
CACNA1EIVNLRYFEMCILLVIAASSIALAAEDPV-L>T<NSERNKVLRYFDYVFTGVFTFEMVIKMIDQ1208
CACNA1FLIHHHVFTNLILVFIILSSVSLAAEDPI-R>A<HSFRNHILGYFDYAFTSIFTVEILLKMTVF926
CACNA1GIITHKMFDHVVLVIIFLNCITIAMERPKID>P<HSAERIFLTLSNYIFTAVFLAEMTVKVVAL1332
CACNA1HVITHKMFDHVVLVFIFLNCVTIALERPDID>P<GSTERVFLSVSNYIFTAIFVAEMMVKVVAL1350
CACNA1IIIAHKLFDYVVLAFIFLNCITIALERPQIE>A<GSTERIFLTVSNYIFTAIFVGEMTLKVVSL1226
CACNA1SIVNATWFTNFILLFILLSSAALAAEDPI-R>A<DSMRNQILKHFDIGFTSVFTVEIVLKMTTY854
SCN10AIVEHSWFESFIIFMILLSSGSLAFEDYYLD>Q<KPTVKALLEYTDRVFTFIFVFEMLLKWVAY1208
SCN11AIVKHSWFESFIIFVILLSSGALIFEDVHLE>N<QPKIQELLNCTDIIFTHIFILEMVLKWVAF1112
SCN1AIVEHNWFETFIVFMILLSSGALAFEDIYID>Q<RKTIKTMLEYADKVFTYIFILEMLLKWVAY1274
SCN2AIVEHNWFETFIVFMILLSSGALAFEDIYIE>Q<RKTIKTMLEYADKVFTYIFILEMLLKWVAY1264
SCN3AIVEHNWFETFIVFMILLSSGALAFEDIYIE>Q<RKTIKTMLEYADKVFTYIFILEMLLKWVAY1262
SCN4AIVEHNWFETFIVFMILLSSGALAFEDIYIE>Q<RRVIRTILEYADKVFTYIFIMEMLLKWVAY1087
SCN5AIVEHSWFETFIIFMILLSSGALAFEDIYLE>E<RKTIKVLLEYADKMFTYVFVLEMLLKWVAY1261
SCN7AIVENNWFKCFIGLVTLLSTGTLAFEDIYMD>Q<RKTIKILLEYADMIFTYIFILEMLLKWMAY990
SCN8AIVEHNWFETFIIFMILLSSGALAFEDIYIE>Q<RKTIRTILEYADKVFTYIFILEMLLKWTAY1254
SCN9AIVEHSWFESFIVLMILLSSGALAFEDIYIE>R<KKTIKIILEYADKIFTYIFILEMLLKWIAY1237
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 925 for CACNA1C.