Paralogue Annotation for CACNA1C residue 1027

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1027
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1027

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AP1332LLong QT syndromeMedium9 14676229, 17698727, 24136861
SCN4AP1158SHypokalaemic periodic paralysisMedium9 10851391
SCN9AP1308LErythermalgia, primaryMedium9 20429905
SCN1AP1345SEpileptic encephalopathy, early onsetMedium9 23708187
SCN1AP1345LEpilepsy of infancy with migrating focal seizuresMedium9 26993267
SCN4AP1158LMyotoniaMedium9 27164696

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.



CACNA1CLRVLRVLRPLRAINRAKGLKHVVQCVFVAI>R<TIGNIVIVTTLLQFMFACIGVQLFKGKLYT1057
CACNA1ALRVLRVLRPLKTIKRLPKLKAVFDCVVNSL>K<NVFNILIVYMLFMFIFAVVAVQLFKGKFFH1405
CACNA1BLRVLRVLRPLKTIKRLPKLKAVFDCVVNSL>K<NVLNILIVYMLFMFIFAVIAVQLFKGKFFY1311
CACNA1DLRVLRVLRPLRAINRAKGLKHVVQCVFVAI>R<TIGNIMIVTTLLQFMFACIGVQLFKGKFYR1063
CACNA1ELRVLRVLRPLKTIKRLPKLKAVFDCVVTSL>K<NVFNILIVYKLFMFIFAVIAVQLFKGKFFY1317
CACNA1FLRVLRVLRPLRAINRAKGLKHVVQCVFVAI>R<TIGNIMIVTTLLQFMFACIGVQLFKGKFYT1028
CACNA1GLRLLRTLRPLRVISRAQGLKLVVETLMSSL>K<PIGNIVVICCAFFIIFGILGVQLFKGKFFV1440
CACNA1HLRLLRTLRPLRVISRAPGLKLVVETLISSL>R<PIGNIVLICCAFFIIFGILGVQLFKGKFYY1458
CACNA1ILRLLRTLRPLRVISRAPGLKLVVETLISSL>K<PIGNIVLICCAFFIIFGILGVQLFKGKFYH1334
CACNA1SLRVLRVLRPLRAINRAKGLKHVVQCMFVAI>S<TIGNIVLVTTLLQFMFACIGVQLFKGKFFR956
SCN10ALRTLRALRPLRALSRFEGMRVVVDALVGAI>P<SIMNVLLVCLIFWLIFSIMGVNLFAGKFWR1309
SCN11AFRTLRALRPLRALSQFEGMKVVVNALIGAI>P<AILNVLLVCLIFWLVFCILGVYFFSGKFGK1206
SCN1ALRTLRALRPLRALSRFEGMRVVVNALLGAI>P<SIMNVLLVCLIFWLIFSIMGVNLFAGKFYH1375
SCN2ALRTLRALRPLRALSRFEGMRVVVNALLGAI>P<SIMNVLLVCLIFWLIFSIMGVNLFAGKFYH1365
SCN3ALRTLRALRPLRALSRFEGMRVVVNALVGAI>P<SIMNVLLVCLIFWLIFSIMGVNLFAGKFYH1363
SCN4ALRTLRALRPLRALSRFEGMRVVVNALLGAI>P<SIMNVLLVCLIFWLIFSIMGVNLFAGKFYY1188
SCN5ALRTLRALRPLRALSRFEGMRVVVNALVGAI>P<SIMNVLLVCLIFWLIFSIMGVNLFAGKFGR1362
SCN7ALISMKFLRPLRVLSQFERMKVVVRALIKTT>L<PTLNVFLVCLMIWLIFSIMGVDLFAGRFYE1086
SCN8ALRTLRALRPLRALSRFEGMRVVVNALVGAI>P<SIMNVLLVCLIFWLIFSIMGVNLFAGKYHY1355
SCN9ALRTLRALRPLRALSRFEGMRVVVNALIGAI>P<SIMNVLLVCLIFWLIFSIMGVNLFAGKFYE1338
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1027Wc.3079C>T Putative BenignSIFT:
Polyphen: