Paralogue Annotation for CACNA1C residue 2079

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2079
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2079

No paralogue variants have been mapped to residue 2079 for CACNA1C.

CACNA1C	---PKFIEVTT-QELADACDMTIEEMESAA>D<NILSGGAPQSPNGALLPFVNCRDAG---QD	2106
CACNA1A	------------------------------>-<------------------------------
CACNA1B	---SDPYLGQR-LDSEASVHALPEDTLTFE>E<AVATNSGRSSRTSYVSSLTSQSHPL---RR	2310
CACNA1D	---PKFVSATK-HEIADACDLTIDEMESAA>S<TLLNGNVRPRANGDVGPLSHRQDYE---LQ	2151
CACNA1E	---SEPYLALH-EDSHAS-DCGEEETLTFE>A<AVATSLGRSNTIGSAPPLRHSW-------Q	2277
CACNA1F	---PRFVALAK-QEIADACRLTLDEMDNAA>S<DLLAQGTSS---------------------	1950
CACNA1G	---PPSPGICLRRRAPSSDSKDPLASGPPD>S<MAASPSPKKDVLSLSGLSSDPADLD-----	2376
CACNA1H	WGQASCRAEHLTVPSFAFEPLDLGVPSGDP>F<LDGSHSVTPESRASSSGAIVPLEPPESEPP	2311
CACNA1I	---PPAPGLTPARKFSSTSSLAAPGRPHAA>A<LAHGLARSPSWAADRSKDPPGRAPLPMGLG	2199
CACNA1S	---ANFIMATG-QALADACQMEPEEVEIMA>T<ELLKGREAPEGMASSLGCLNL---------	1851
SCN10A	------------------------------>-<------------------------------
SCN11A	------------------------------>-<------------------------------
SCN1A	------------------------------>-<------------------------------
SCN2A	------------------------------>-<------------------------------
SCN3A	------------------------------>-<------------------------------
SCN4A	------------------------------>-<------------------------------
SCN5A	------------------------------>-<------------------------------
SCN7A	------------------------------>-<------------------------------
SCN8A	------------------------------>-<------------------------------
SCN9A	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2079N	c.6235G>A	Putative Benign			SIFT: Polyphen: