Paralogue Annotation for CACNA1C residue 923

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 923
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 923

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AY1228HBrugada syndromeMedium7 20129283

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.



CACNA1CCHRIVNDTIFTNLILFFILLSSISLAAEDP>V<-QHTSFRNHILFYFDIVFTTIFTIEIALKM952
CACNA1ACHYILNLRYFEMCILMVIAMSSIALAAEDP>V<-QPNAPRNNVLRYFDYVFTGVFTFEMVIKM1296
CACNA1BCHYIVTMRYFEVVILVVIALSSIALAAEDP>V<-RTDSPRNNALKYLDYIFTGVFTFEMVIKM1203
CACNA1DCHKLINHHIFTNLILVFIMLSSAALAAEDP>I<-RSHSFRNTILGYFDYAFTAIFTVEILLKM958
CACNA1ECHYIVNLRYFEMCILLVIAASSIALAAEDP>V<-LTNSERNKVLRYFDYVFTGVFTFEMVIKM1205
CACNA1FCHTLIHHHVFTNLILVFIILSSVSLAAEDP>I<-RAHSFRNHILGYFDYAFTSIFTVEILLKM923
CACNA1GCHRIITHKMFDHVVLVIIFLNCITIAMERP>K<IDPHSAERIFLTLSNYIFTAVFLAEMTVKV1329
CACNA1HCQKVITHKMFDHVVLVFIFLNCVTIALERP>D<IDPGSTERVFLSVSNYIFTAIFVAEMMVKV1347
CACNA1ICQTIIAHKLFDYVVLAFIFLNCITIALERP>Q<IEAGSTERIFLTVSNYIFTAIFVGEMTLKV1223
CACNA1SCHRIVNATWFTNFILLFILLSSAALAAEDP>I<-RADSMRNQILKHFDIGFTSVFTVEIVLKM851
SCN10ACYRIVEHSWFESFIIFMILLSSGSLAFEDY>Y<LDQKPTVKALLEYTDRVFTFIFVFEMLLKW1205
SCN11ACYQIVKHSWFESFIIFVILLSSGALIFEDV>H<LENQPKIQELLNCTDIIFTHIFILEMVLKW1109
SCN1ACFRIVEHNWFETFIVFMILLSSGALAFEDI>Y<IDQRKTIKTMLEYADKVFTYIFILEMLLKW1271
SCN2ACYKIVEHNWFETFIVFMILLSSGALAFEDI>Y<IEQRKTIKTMLEYADKVFTYIFILEMLLKW1261
SCN3ACYSIVEHNWFETFIVFMILLSSGALAFEDI>Y<IEQRKTIKTMLEYADKVFTYIFILEMLLKW1259
SCN4ACFKIVEHNWFETFIVFMILLSSGALAFEDI>Y<IEQRRVIRTILEYADKVFTYIFIMEMLLKW1084
SCN5ACYHIVEHSWFETFIIFMILLSSGALAFEDI>Y<LEERKTIKVLLEYADKMFTYVFVLEMLLKW1258
SCN7ACCKIVENNWFKCFIGLVTLLSTGTLAFEDI>Y<MDQRKTIKILLEYADMIFTYIFILEMLLKW987
SCN8ACFLIVEHNWFETFIIFMILLSSGALAFEDI>Y<IEQRKTIRTILEYADKVFTYIFILEMLLKW1251
SCN9ACYKIVEHSWFESFIVLMILLSSGALAFEDI>Y<IERKKTIKIILEYADKIFTYIFILEMLLKW1234
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 923 for CACNA1C.