Paralogue Annotation for CACNA1C residue 1025

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1025
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 1025

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	A1330T	Long QT syndrome	High	9	12566525
SCN5A	A1330P	Long QT syndrome	High	9	11535573
SCN4A	A1156T	Paramyotonia congenita	High	9	1338909, 22926674, 7809121
CACNA1A	S1373L	Encephalopathy, epileptic	Medium	9	27212419
SCN8A	A1323S	Epileptic encephalopathy, infantile	High	9	26993267

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	KILRVLRVLRPLRAINRAKGLKHVVQCVFV>A<IRTIGNIVIVTTLLQFMFACIGVQLFKGKL	1055
CACNA1A	KSLRVLRVLRPLKTIKRLPKLKAVFDCVVN>S<LKNVFNILIVYMLFMFIFAVVAVQLFKGKF	1403
CACNA1B	KSLRVLRVLRPLKTIKRLPKLKAVFDCVVN>S<LKNVLNILIVYMLFMFIFAVIAVQLFKGKF	1309
CACNA1D	KILRVLRVLRPLRAINRAKGLKHVVQCVFV>A<IRTIGNIMIVTTLLQFMFACIGVQLFKGKF	1061
CACNA1E	KSLRVLRVLRPLKTIKRLPKLKAVFDCVVT>S<LKNVFNILIVYKLFMFIFAVIAVQLFKGKF	1315
CACNA1F	KILRVLRVLRPLRAINRAKGLKHVVQCVFV>A<IRTIGNIMIVTTLLQFMFACIGVQLFKGKF	1026
CACNA1G	RVLRLLRTLRPLRVISRAQGLKLVVETLMS>S<LKPIGNIVVICCAFFIIFGILGVQLFKGKF	1438
CACNA1H	RVLRLLRTLRPLRVISRAPGLKLVVETLIS>S<LRPIGNIVLICCAFFIIFGILGVQLFKGKF	1456
CACNA1I	RVLRLLRTLRPLRVISRAPGLKLVVETLIS>S<LKPIGNIVLICCAFFIIFGILGVQLFKGKF	1332
CACNA1S	KILRVLRVLRPLRAINRAKGLKHVVQCMFV>A<ISTIGNIVLVTTLLQFMFACIGVQLFKGKF	954
SCN10A	KALRTLRALRPLRALSRFEGMRVVVDALVG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF	1307
SCN11A	KSFRTLRALRPLRALSQFEGMKVVVNALIG>A<IPAILNVLLVCLIFWLVFCILGVYFFSGKF	1204
SCN1A	KSLRTLRALRPLRALSRFEGMRVVVNALLG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF	1373
SCN2A	KSLRTLRALRPLRALSRFEGMRVVVNALLG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF	1363
SCN3A	KSLRTLRALRPLRALSRFEGMRVVVNALVG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF	1361
SCN4A	KSLRTLRALRPLRALSRFEGMRVVVNALLG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF	1186
SCN5A	KSLRTLRALRPLRALSRFEGMRVVVNALVG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF	1360
SCN7A	KPLISMKFLRPLRVLSQFERMKVVVRALIK>T<TLPTLNVFLVCLMIWLIFSIMGVDLFAGRF	1084
SCN8A	KSLRTLRALRPLRALSRFEGMRVVVNALVG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKY	1353
SCN9A	KSLRTLRALRPLRALSRFEGMRVVVNALIG>A<IPSIMNVLLVCLIFWLIFSIMGVNLFAGKF	1336
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1025T	c.3073G>A	Putative Benign			SIFT: Polyphen: