Paralogue Annotation for CACNA1C residue 1560

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1560
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1560

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D1866Y	Generalized epilepsy with febrile seizures plus	Medium	7	15525788

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	GKLCPHRVACKRLVSMNMPLNSDG-TVMFN>A<TLFALVRTALRIKTEG---NLEQANEELRA	1587
CACNA1A	GKKCPHRVACKRLLRMDLPVADD-NTVHFN>S<TLMALIRTALDIKIAKGGADKQQMDAELRK	1925
CACNA1B	GKKCPARVAYKRLVRMNMPISNEDMTVHFT>S<TLMALIRTALEIKLAPAGTKQHQCDAELRK	1824
CACNA1D	GKLCPHRVACKRLVAMNMPLNSDG-TVMFN>A<TLFALVRTALKIKTEG---NLEQANEELRA	1595
CACNA1E	GKRCPSKVAYKRLVLMNMPVAED-MTVHFT>S<TLMALIRTALDIKIAKGGADRQQLDSELQK	1837
CACNA1F	GKLCPHRVACKRLVAMNMPLNSDG-TVTFN>A<TLFALVRTSLKIKTEG---NLEQANQELRI	1552
CACNA1G	DSPKPGAL---------HPAAHA-RSASHF>S<LEHPTDRQLFDTI---S--LLIQGSLEWEL	1947
CACNA1H	ESPG--AR--------DAPN---------->-<----LVARKV----------------SVSR	1923
CACNA1I	GGDT--EG---GLCRRCYSPAQE-N--LWL>D<SVSLIIKDSL----------------EGEL	1818
CACNA1S	GKFCPHRVACKRLVGMNMPLNSDG-TVTFN>A<TLFALVRTALKIKTEG---NFEQANEELRA	1492
SCN10A	PK--PNRN---ILIQMDLPLVPGD-KIHCL>D<ILFAFTKNVLGES--G---ELDSLKANMEE	1827
SCN11A	AK--PNKY---QFLVMDLPMVSED-RLHCM>D<ILFAFTARVLGGS--D---GLDSMKAMMEE	1709
SCN1A	PQ--PNKL---QLIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGES--G---EMDALRIQMEE	1891
SCN2A	AK--PNKV---QLIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGES--G---EMDALRIQMEE	1881
SCN3A	AK--PNKV---QLIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGES--G---EMDALRIQMED	1876
SCN4A	AK--PNKI---KLITLDLPMVPGD-KIHCL>D<ILFALTKEVLGDS--G---EMDALKQTMEE	1703
SCN5A	AK--PNQI---SLINMDLPMVSGD-RIHCM>D<ILFAFTKRVLGES--G---EMDALKIQMEE	1877
SCN7A	AK--PNKG---QLIALDLPMAVGD-RIHCL>D<ILLAFTKRVMGQD--V---RMEKVVSEIES	1601
SCN8A	PK--PNTI---ELIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGDS--G---ELDILRQQMEE	1871
SCN9A	AK--PNKV---QLIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGES--G---EMDSLRSQMEE	1854
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1560V	c.4679C>T	Putative Benign			SIFT: Polyphen: