Paralogue Annotation for CACNA1C residue 1014

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1014
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1014

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1319VBrugada syndromeHigh9 12106943, 17854786, 23414114, 24573164, 25179549

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.



CACNA1C--IQSSAINVVKILRVLRVLRPLRAINRAK>G<LKHVVQCVFVAIRTIGNIVIVTTLLQFMFA1044
CACNA1A--SKGKDINTIKSLRVLRVLRPLKTIKRLP>K<LKAVFDCVVNSLKNVFNILIVYMLFMFIFA1392
CACNA1B--SKGKDINTIKSLRVLRVLRPLKTIKRLP>K<LKAVFDCVVNSLKNVLNILIVYMLFMFIFA1298
CACNA1D--IQSSAISVVKILRVLRVLRPLRAINRAK>G<LKHVVQCVFVAIRTIGNIMIVTTLLQFMFA1050
CACNA1EGTNKGRDIKTIKSLRVLRVLRPLKTIKRLP>K<LKAVFDCVVTSLKNVFNILIVYKLFMFIFA1304
CACNA1F--IHSSAISVVKILRVLRVLRPLRAINRAK>G<LKHVVQCVFVAIRTIGNIMIVTTLLQFMFA1015
CACNA1GD-SGTKILGMLRVLRLLRTLRPLRVISRAQ>G<LKLVVETLMSSLKPIGNIVVICCAFFIIFG1427
CACNA1HA-GGAKILGVLRVLRLLRTLRPLRVISRAP>G<LKLVVETLISSLRPIGNIVLICCAFFIIFG1445
CACNA1IA-GGAKILGVLRVLRLLRTLRPLRVISRAP>G<LKLVVETLISSLKPIGNIVLICCAFFIIFG1321
CACNA1S--LESSAISVVKILRVLRVLRPLRAINRAK>G<LKHVVQCMFVAISTIGNIVLVTTLLQFMFA943
SCN10A--LEYSEVAPIKALRTLRALRPLRALSRFE>G<MRVVVDALVGAIPSIMNVLLVCLIFWLIFS1296
SCN11A---N---LMELKSFRTLRALRPLRALSQFE>G<MKVVVNALIGAIPAILNVLLVCLIFWLVFC1193
SCN1A--LGYSELGAIKSLRTLRALRPLRALSRFE>G<MRVVVNALLGAIPSIMNVLLVCLIFWLIFS1362
SCN2A--LGYSELGAIKSLRTLRALRPLRALSRFE>G<MRVVVNALLGAIPSIMNVLLVCLIFWLIFS1352
SCN3A--LGYSELGAIKSLRTLRALRPLRALSRFE>G<MRVVVNALVGAIPSIMNVLLVCLIFWLIFS1350
SCN4A--LGYSELGPIKSLRTLRALRPLRALSRFE>G<MRVVVNALLGAIPSIMNVLLVCLIFWLIFS1175
SCN5A--LGFAEMGPIKSLRTLRALRPLRALSRFE>G<MRVVVNALVGAIPSIMNVLLVCLIFWLIFS1349
SCN7A--RE--E---LKPLISMKFLRPLRVLSQFE>R<MKVVVRALIKTTLPTLNVFLVCLMIWLIFS1073
SCN8A--LGYSELGAIKSLRTLRALRPLRALSRFE>G<MRVVVNALVGAIPSIMNVLLVCLIFWLIFS1342
SCN9A--LGYSDLGPIKSLRTLRALRPLRALSRFE>G<MRVVVNALIGAIPSIMNVLLVCLIFWLIFS1325
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1014 for CACNA1C.