Paralogue Annotation for CACNA1C residue 215

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 215
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 215

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	G211D	West syndrome with hypotonia	Medium	5	23662938
SCN8A	G214D	Infantile spasms	Medium	5	23934111

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	FHPNAYLRNGWNLLDFIIVVVGLFSAILEQ>A<TKA-DGANALGGKGAGFDVKALRAFRVLRP	244
CACNA1A	FHKGSYLRNGWNVMDFVVVLTGILATVGTE>F<-----------------DLRTLRAVRVLRP	202
CACNA1B	FHKGSYLRNGWNVMDFVVVLTGILATAGTD>F<-----------------DLRTLRAVRVLRP	199
CACNA1D	LHPNAYVRNGWNLLDFVIVIVGLFSVILEQ>L<TKETEGGNHSSGKSGGFDVKALRAFRVLRP	247
CACNA1E	FHKGSYLRNGWNVMDFIVVLSGILATAGTH>F<N-------------THVDLRTLRAVRVLRP	197
CACNA1F	LHPSAYIRNGWNLLDFIIVVVGLFSVLLEQ>G<PGRPGDAPHTGGKPGGFDVKALRAFRVLRP	213
CACNA1G	FGKKCYLGDTWNRLDFFIVIAGMLEYSLDL>Q<---------------NVSFSAVRTVRVLRP	187
CACNA1H	FGQKCYLGDTWNRLDFFIVVAGMMEYSLDG>H<---------------NVSLSAIRTVRVLRP	206
CACNA1I	FGKKCYLGDTWNRLDFFIVMAGMVEYSLDL>Q<---------------NINLSAIRTVRVLRP	185
CACNA1S	FHQDAYLRSGWNVLDFTIVFLGVFTVILEQ>V<NVIQSHTAPMSSKGAGLDVKALRAFRVLRP	172
SCN10A	LNEFTYLRDPWNWLDFSVITLAYVGTAIDL>R<-----------------GISGLRTFRVLRA	222
SCN11A	LDEFSFLRDPWNWLDSIVIGIAIVSYIPGI>T<----------------IKLLPLRTFRVFRA	229
SCN1A	LEDFTFLRDPWNWLDFTVITFAYVTEFVDL>G<-----------------NVSALRTFRVLRA	223
SCN2A	LEDFTFLRDPWNWLDFTVITFAYVTEFVDL>G<-----------------NVSALRTFRVLRA	224
SCN3A	LEDFTFLRDPWNWLDFSVIVMAYVTEFVDL>G<-----------------NVSALRTFRVLRA	223
SCN4A	VDDFTFLRDPWNWLDFSVIMMAYLTEFVDL>G<-----------------NISALRTFRVLRA	226
SCN5A	LHAFTFLRDPWNWLDFSVIIMAYVSENIKL>G<-----------------NLSALRTFRVLRA	226
SCN7A	AGSFSFLGDPWNWLDFSVTVFEVIIRYSPL>D<-----------------FIPTLQTARTLRI	213
SCN8A	IDGFTFLRDPWNWLDFSVIMMAYITEFVNL>G<-----------------NVSALRTFRVLRA	227
SCN9A	VGEFTFLRDPWNWLDFVVIVFAYLTEFVNL>G<-----------------NVSALRTFRVLRA	221
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 215 for CACNA1C.