Paralogue Annotation for CACNA1C residue 1099

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1099
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 1099

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D1416G	Dravet syndrome	High	9	18930999
SCN1A	D1416H	Dravet syndrome	High	9	23895530

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	NYITYKDGEVDHP-IIQ--PRSWENSKFDF>D<NVLAAMMALFTVSTFEGWPELLYRSIDSHT	1129
CACNA1A	KYLLYEKNEVK----AR--DREWKKYEFHY>D<NVLWALLTLFTVSTGEGWPQVLKHSVDATF	1474
CACNA1B	QYLDYEKEEVE----AQ--PRQWKKYDFHY>D<NVLWALLTLFTVSTGEGWPMVLKHSVDATY	1380
CACNA1D	LFILYKDGDVDSP-VVR--ERIWQNSDFNF>D<NVLSAMMALFTVSTFEGWPALLYKAIDSNG	1135
CACNA1E	NYVDHEKNKME----VK--GREWKRHEFHY>D<NIIWALLTLFTVSTGEGWPQVLQHSVDVTE	1386
CACNA1F	SFLVYPDGDVSRP-LVR--ERLWVNSDFNF>D<NVLSAMMALFTVSTFEGWPALLYKAIDAYA	1100
CACNA1G	TRNITNKSDCA----EA--SYRWVRHKYNF>D<NLGQALMSLFVLASKDGWVDIMYDGLDAVG	1500
CACNA1H	TRNISTKAQCR----AA--HYRWVRRKYNF>D<NLGQALMSLFVLSSKDGWVNIMYDGLDAVG	1518
CACNA1I	TRNITNRSDCM----AA--NYRWVHHKYNF>D<NLGQALMSLFVLASKDGWVNIMYNGLDAVA	1394
CACNA1S	YYYVYKDGDPMQI-ELR--HREWVHSDFHF>D<NVLSAMMSLFTVSTFEGWPQLLYKAIDSNA	1028
SCN10A	LSIVNNKSDCKIQNSTGS--FFWVNVKVNF>D<NVAMGYLALLQVATFKGWMDIMYAAVDSRE	1381
SCN11A	YTIITNKSQCESGN------FSWINQKVNF>D<NVGNAYLALLQVATFKGWMDIIYAAVDSTE	1271
SCN1A	IEDVNNHTDCLKLIERNET-ARWKNVKVNF>D<NVGFGYLSLLQVATFKGWMDIMYAAVDSRN	1446
SCN2A	VSVVNNYSECKALIESNQT-ARWKNVKVNF>D<NVGLGYLSLLQVATFKGWMDIMYAAVDSRN	1436
SCN3A	ISDVNNLSDCQALGK--Q--ARWKNVKVNF>D<NVGAGYLALLQVATFKGWMDIMYAAVDSRD	1431
SCN4A	ISEVNNKSECESLMHTGQ--VRWLNVKVNY>D<NVGLGYLSLLQVATFKGWMDIMYAAVDSRE	1258
SCN5A	YTIVNNKSQCESLNLTGE--LYWTKVKVNF>D<NVGAGYLALLQVATFKGWMDIMYAAVDSRG	1433
SCN7A	SSEVMNKSRCESLLFNES--MLWENAKMNF>D<NVGNGFLSLLQVATFNGWITIMNSAIDSVA	1156
SCN8A	IEDVNNKTECEKLMEGNNTEIRWKNVKINF>D<NVGAGYLALLQVATFKGWMDIMYAAVDSRK	1427
SCN9A	ASQVPNRSECFALMNVSQN-VRWKNLKVNF>D<NVGLGYLSLLQVATFKGWTIIMYAAVDSVN	1409
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1099N	c.3295G>A	Putative Benign			SIFT: Polyphen: