Paralogue Annotation for CACNA1C residue 1024

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1024
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1024

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AG1329SLong QT syndromeMedium9 21216356, 24667783

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.



CACNA1CVKILRVLRVLRPLRAINRAKGLKHVVQCVF>V<AIRTIGNIVIVTTLLQFMFACIGVQLFKGK1054
CACNA1AIKSLRVLRVLRPLKTIKRLPKLKAVFDCVV>N<SLKNVFNILIVYMLFMFIFAVVAVQLFKGK1402
CACNA1BIKSLRVLRVLRPLKTIKRLPKLKAVFDCVV>N<SLKNVLNILIVYMLFMFIFAVIAVQLFKGK1308
CACNA1DVKILRVLRVLRPLRAINRAKGLKHVVQCVF>V<AIRTIGNIMIVTTLLQFMFACIGVQLFKGK1060
CACNA1EIKSLRVLRVLRPLKTIKRLPKLKAVFDCVV>T<SLKNVFNILIVYKLFMFIFAVIAVQLFKGK1314
CACNA1FVKILRVLRVLRPLRAINRAKGLKHVVQCVF>V<AIRTIGNIMIVTTLLQFMFACIGVQLFKGK1025
CACNA1GLRVLRLLRTLRPLRVISRAQGLKLVVETLM>S<SLKPIGNIVVICCAFFIIFGILGVQLFKGK1437
CACNA1HLRVLRLLRTLRPLRVISRAPGLKLVVETLI>S<SLRPIGNIVLICCAFFIIFGILGVQLFKGK1455
CACNA1ILRVLRLLRTLRPLRVISRAPGLKLVVETLI>S<SLKPIGNIVLICCAFFIIFGILGVQLFKGK1331
CACNA1SVKILRVLRVLRPLRAINRAKGLKHVVQCMF>V<AISTIGNIVLVTTLLQFMFACIGVQLFKGK953
SCN10AIKALRTLRALRPLRALSRFEGMRVVVDALV>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1306
SCN11ALKSFRTLRALRPLRALSQFEGMKVVVNALI>G<AIPAILNVLLVCLIFWLVFCILGVYFFSGK1203
SCN1AIKSLRTLRALRPLRALSRFEGMRVVVNALL>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1372
SCN2AIKSLRTLRALRPLRALSRFEGMRVVVNALL>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1362
SCN3AIKSLRTLRALRPLRALSRFEGMRVVVNALV>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1360
SCN4AIKSLRTLRALRPLRALSRFEGMRVVVNALL>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1185
SCN5AIKSLRTLRALRPLRALSRFEGMRVVVNALV>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1359
SCN7ALKPLISMKFLRPLRVLSQFERMKVVVRALI>K<TTLPTLNVFLVCLMIWLIFSIMGVDLFAGR1083
SCN8AIKSLRTLRALRPLRALSRFEGMRVVVNALV>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1352
SCN9AIKSLRTLRALRPLRALSRFEGMRVVVNALI>G<AIPSIMNVLLVCLIFWLIFSIMGVNLFAGK1335
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1024 for CACNA1C.