Paralogue Annotation for CACNA1C residue 944

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 944
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 944

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF1250LLong QT syndrome, drug-associatedHigh9 11997281
SCN1AF1263LMyoclonic epilepsy of infancyHigh9 12566275

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.



CACNA1CISLAAEDPV-QHTSFRNHILFYFDIVFTTI>F<TIEIALKMTAYGAFLHKGSFCRNYFNILDL974
CACNA1AIALAAEDPV-QPNAPRNNVLRYFDYVFTGV>F<TFEMVIKMIDLGLVLHQGAYFRDLWNILDF1318
CACNA1BIALAAEDPV-RTDSPRNNALKYLDYIFTGV>F<TFEMVIKMIDLGLLLHPGAYFRDLWNILDF1225
CACNA1DAALAAEDPI-RSHSFRNTILGYFDYAFTAI>F<TVEILLKMTTFGAFLHKGAFCRNYFNLLDM980
CACNA1EIALAAEDPV-LTNSERNKVLRYFDYVFTGV>F<TFEMVIKMIDQGLILQDGSYFRDLWNILDF1227
CACNA1FVSLAAEDPI-RAHSFRNHILGYFDYAFTSI>F<TVEILLKMTVFGAFLHRGSFCRSWFNMLDL945
CACNA1GITIAMERPKIDPHSAERIFLTLSNYIFTAV>F<LAEMTVKVVALGWCFGEQAYLRSSWNVLDG1351
CACNA1HVTIALERPDIDPGSTERVFLSVSNYIFTAI>F<VAEMMVKVVALGLLSGEHAYLQSSWNLLDG1369
CACNA1IITIALERPQIEAGSTERIFLTVSNYIFTAI>F<VGEMTLKVVSLGLYFGEQAYLRSSWNVLDG1245
CACNA1SAALAAEDPI-RADSMRNQILKHFDIGFTSV>F<TVEIVLKMTTYGAFLHKGSFCRNYFNMLDL873
SCN10AGSLAFEDYYLDQKPTVKALLEYTDRVFTFI>F<VFEMLLKWVAYGF----KKYFTNAWCWLDF1223
SCN11AGALIFEDVHLENQPKIQELLNCTDIIFTHI>F<ILEMVLKWVAFGF----GKYFTSAWCCLDF1127
SCN1AGALAFEDIYIDQRKTIKTMLEYADKVFTYI>F<ILEMLLKWVAYGY----QTYFTNAWCWLDF1289
SCN2AGALAFEDIYIEQRKTIKTMLEYADKVFTYI>F<ILEMLLKWVAYGF----QVYFTNAWCWLDF1279
SCN3AGALAFEDIYIEQRKTIKTMLEYADKVFTYI>F<ILEMLLKWVAYGF----QTYFTNAWCWLDF1277
SCN4AGALAFEDIYIEQRRVIRTILEYADKVFTYI>F<IMEMLLKWVAYGF----KVYFTNAWCWLDF1102
SCN5AGALAFEDIYLEERKTIKVLLEYADKMFTYV>F<VLEMLLKWVAYGF----KKYFTNAWCWLDF1276
SCN7AGTLAFEDIYMDQRKTIKILLEYADMIFTYI>F<ILEMLLKWMAYGF----KAYFSNGWYRLDF1005
SCN8AGALAFEDIYIEQRKTIRTILEYADKVFTYI>F<ILEMLLKWTAYGF----VKFFTNAWCWLDF1269
SCN9AGALAFEDIYIERKKTIKIILEYADKIFTYI>F<ILEMLLKWIAYGY----KTYFTNAWCWLDF1252
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 944 for CACNA1C.