Paralogue Annotation for CACNA1C residue 1557

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1557
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1557

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	H1853R	Ohtahara syndrome	Medium	9	24463883
SCN5A	H1849R	Arrhythmia	Medium	9	26392562

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	--FGKLCPHRVACKRLVSMNMPLNSDG-TV>M<FNATLFALVRTALRIKTEG---NLEQANEE	1584
CACNA1A	--LGKKCPHRVACKRLLRMDLPVADD-NTV>H<FNSTLMALIRTALDIKIAKGGADKQQMDAE	1922
CACNA1B	--LGKKCPARVAYKRLVRMNMPISNEDMTV>H<FTSTLMALIRTALEIKLAPAGTKQHQCDAE	1821
CACNA1D	--FGKLCPHRVACKRLVAMNMPLNSDG-TV>M<FNATLFALVRTALKIKTEG---NLEQANEE	1592
CACNA1E	--LGKRCPSKVAYKRLVLMNMPVAED-MTV>H<FTSTLMALIRTALDIKIAKGGADRQQLDSE	1834
CACNA1F	--FGKLCPHRVACKRLVAMNMPLNSDG-TV>T<FNATLFALVRTSLKIKTEG---NLEQANQE	1549
CACNA1G	--PDSPKPGAL---------HPAAHA-RSA>S<HFSLEHPTDRQLFDTI---S--LLIQGSLE	1944
CACNA1H	--QESPG--AR--------DAPN------->-<-------LVARKV----------------S	1920
CACNA1I	AGGGGDT--EG---GLCRRCYSPAQE-N-->L<WLDSVSLIIKDSL----------------E	1815
CACNA1S	--FGKFCPHRVACKRLVGMNMPLNSDG-TV>T<FNATLFALVRTALKIKTEG---NFEQANEE	1489
SCN10A	--IPK--PNRN---ILIQMDLPLVPGD-KI>H<CLDILFAFTKNVLGES--G---ELDSLKAN	1824
SCN11A	--VAK--PNKY---QFLVMDLPMVSED-RL>H<CMDILFAFTARVLGGS--D---GLDSMKAM	1706
SCN1A	--LPQ--PNKL---QLIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGES--G---EMDALRIQ	1888
SCN2A	--IAK--PNKV---QLIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGES--G---EMDALRIQ	1878
SCN3A	--IAK--PNKV---QLIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGES--G---EMDALRIQ	1873
SCN4A	--IAK--PNKI---KLITLDLPMVPGD-KI>H<CLDILFALTKEVLGDS--G---EMDALKQT	1700
SCN5A	--IAK--PNQI---SLINMDLPMVSGD-RI>H<CMDILFAFTKRVLGES--G---EMDALKIQ	1874
SCN7A	--MAK--PNKG---QLIALDLPMAVGD-RI>H<CLDILLAFTKRVMGQD--V---RMEKVVSE	1598
SCN8A	--VPK--PNTI---ELIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGDS--G---ELDILRQQ	1868
SCN9A	--IAK--PNKV---QLIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGES--G---EMDSLRSQ	1851
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 1557 for CACNA1C.