Paralogue Annotation for CACNA1C residue 108

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 108
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 108

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	S115G	Long QT syndrome	Medium	9	19716085
SCN1A	T112I	Myoclonic epilepsy of infancy	High	9	12566275

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	-QRKRQQYG-KPKKQGSTTATRPPRALLCL>T<LKNPIRRACISIVEWKPFEIIILLTIFANC	138
CACNA1A	AQRARTMAL-YNPIPVRQNCLTVNRSLFLF>S<EDNVVRKYAKKITEWPPFEYMILATIIANC	112
CACNA1B	AQRARTMAL-YNPIPVKQNCFTVNRSLFVF>S<EDNVVRKYAKRITEWPPFEYMILATIIANC	109
CACNA1D	SQRKRQQYA-KSKKQGNSSNSRPARALFCL>S<LNNPIRRACISIVEWKPFDIFILLAIFANC	140
CACNA1E	AQRARTMAL-YNPIPVRQNCFTVNRSLFIF>G<EDNIVRKYAKKLIDWPPFEYMILATIIANC	103
CACNA1F	TPKRRNQHS-KHKTVAVASAQRSPRALFCL>T<LANPLRRSCISIVEWKPFDILILLTIFANC	106
CACNA1G	--EKDPG-SADSEAEGLPYPALAPVVFFYL>S<QDSRPRSWCLRTVCNPWFERISMLVILLNC	95
CACNA1H	--ERGAELG-ADEEQRVPYPALAATVFFCL>G<QTTRPRSWCLRLVCNPWFEHVSMLVIMLNC	114
CACNA1I	--LEEPL-D-G-ADPHVPHPDLAPIAFFCL>R<QTTSPRNWCIKMVCNPWFECVSMLVILLNC	93
CACNA1S	PQDEGLRKK-QPKKPVPEILPRPPRALFCL>T<LENPLRKACISIVEWKPFETIILLTIFANC	65
SCN10A	YSTHR-TFM-VLNKGRTISRFSATRALWLF>S<PFNLIRRTAIKVSVHSWFSLFITVTILVNC	144
SCN11A	YRNHK-TFM-VLNRKRTIYRFSAKHALFIF>G<PFNSIRSLAIRVSVHSLFSMFIIGTVIINC	143
SCN1A	YINKK-TFI-VLNKGKAIFRFSATSALYIL>T<PFNPLRKIAIKILVHSLFSMLIMCTILTNC	142
SCN2A	YINKK-TFI-VLNKGKAISRFSATPALYIL>T<PFNPIRKLAIKILVHSLFNMLIMCTILTNC	143
SCN3A	YINKK-TFI-VMNKGKAIFRFSATSALYIL>T<PLNPVRKIAIKILVHSLFSMLIMCTILTNC	142
SCN4A	YSNKK-TFI-VLNKGKAIFRFSATPALYLL>S<PFSVVRRGAIKVLIHALFSMFIMITILTNC	145
SCN5A	YSTQK-TFI-VLNKGKTIFRFSATNALYVL>S<PFHPIRRAAVKILVHSLFNMLIMCTILTNC	145
SCN7A	YYKKKNTFI-VLNKNRTIFRFNAASILCTL>S<PFNCIRRTTIKVLVHPFFQLFILISVLIDC	132
SCN8A	YLTQK-TFV-VLNRGKTLFRFSATPALYIL>S<PFNLIRRIAIKILIHSVFSMIIMCTILTNC	146
SCN9A	YADKK-TFI-VLNKGKTIFRFNATPALYML>S<PFSPLRRISIKILVHSLFSMLIMCTILTNC	140
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 108 for CACNA1C.