Paralogue Annotation for CACNA1C residue 199

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 199
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 199

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D194N	Myoclonic epilepsy of infancy	High	9	17054684, 20562086
SCN1A	D194G	Dravet syndrome	High	9	18930999
SCN1A	D194H	Dravet syndrome C ?	High	9	21248271
SCN1A	D194A	Dravet syndrome	High	9	25459968

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	IFTVEAFLKVIAYGLLFHPNAYLRNGWNLL>D<FIIVVVGLFSAILEQATKA-DGANALGGKG	228
CACNA1A	IFCFEAGIKIIALGFAFHKGSYLRNGWNVM>D<FVVVLTGILATVGTEF--------------	189
CACNA1B	IFCFEAGIKIIALGFVFHKGSYLRNGWNVM>D<FVVVLTGILATAGTDF--------------	186
CACNA1D	IFTVETFLKIIAYGLLLHPNAYVRNGWNLL>D<FVIVIVGLFSVILEQLTKETEGGNHSSGKS	231
CACNA1E	IFCFEAGIKIVALGFIFHKGSYLRNGWNVM>D<FIVVLSGILATAGTHFN-------------	181
CACNA1F	IFTVETVLKIVAYGLVLHPSAYIRNGWNLL>D<FIIVVVGLFSVLLEQGPGRPGDAPHTGGKP	197
CACNA1G	FFAVEMVVKMVALGI-FGKKCYLGDTWNRL>D<FFIVIAGMLEYSLDLQ--------------	172
CACNA1H	FFAVEMVIKMVALGL-FGQKCYLGDTWNRL>D<FFIVVAGMMEYSLDGH--------------	191
CACNA1I	FFAMEMVLKMVALGI-FGKKCYLGDTWNRL>D<FFIVMAGMVEYSLDLQ--------------	170
CACNA1S	VFSIEAAMKIIAYGFLFHQDAYLRSGWNVL>D<FTIVFLGVFTVILEQVNVIQSHTAPMSSKG	156
SCN10A	IYTFEALIKILARGFCLNEFTYLRDPWNWL>D<FSVITLAYVGTAIDLR--------------	209
SCN11A	IYIFEALIKILARGFILDEFSFLRDPWNWL>D<SIVIGIAIVSYIPGIT--------------	215
SCN1A	IYTFESLIKIIARGFCLEDFTFLRDPWNWL>D<FTVITFAYVTEFVDLG--------------	210
SCN2A	IYTFESLIKILARGFCLEDFTFLRDPWNWL>D<FTVITFAYVTEFVDLG--------------	211
SCN3A	IYTFESLIKILARGFCLEDFTFLRDPWNWL>D<FSVIVMAYVTEFVDLG--------------	210
SCN4A	IYTFESLIKILARGFCVDDFTFLRDPWNWL>D<FSVIMMAYLTEFVDLG--------------	213
SCN5A	IYTFESLVKILARGFCLHAFTFLRDPWNWL>D<FSVIIMAYVSENIKLG--------------	213
SCN7A	IYTFEILVKLFARGVWAGSFSFLGDPWNWL>D<FSVTVFEVIIRYSPLD--------------	200
SCN8A	IYTFESLVKIIARGFCIDGFTFLRDPWNWL>D<FSVIMMAYITEFVNLG--------------	214
SCN9A	IYTFESLVKILARGFCVGEFTFLRDPWNWL>D<FVVIVFAYLTEFVNLG--------------	208
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 199 for CACNA1C.