Paralogue Annotation for CACNA1C residue 2075

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2075
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2075

No paralogue variants have been mapped to residue 2075 for CACNA1C.

CACNA1C	-------PKFIEVTT-QELADACDMTIEEM>E<SAADNILSGGAPQSPNGALLPFVNCRDAG-	2104
CACNA1A	------------------------------>-<------------------------------
CACNA1B	-------SDPYLGQR-LDSEASVHALPEDT>L<TFEEAVATNSGRSSRTSYVSSLTSQSHPL-	2308
CACNA1D	-------PKFVSATK-HEIADACDLTIDEM>E<SAASTLLNGNVRPRANGDVGPLSHRQDYE-	2149
CACNA1E	-------SEPYLALH-EDSHAS-DCGEEET>L<TFEAAVATSLGRSNTIGSAPPLRHSW----	2276
CACNA1F	-------PRFVALAK-QEIADACRLTLDEM>D<NAASDLLAQGTSS-----------------	1950
CACNA1G	-------PPSPGICLRRRAPSSDSKDPLAS>G<PPDSMAASPSPKKDVLSLSGLSSDPADLD-	2376
CACNA1H	KGERWGQASCRAEHLTVPSFAFEPLDLGVP>S<GDPFLDGSHSVTPESRASSSGAIVPLEPPE	2307
CACNA1I	-------PPAPGLTPARKFSSTSSLAAPGR>P<HAAALAHGLARSPSWAADRSKDPPGRAPLP	2195
CACNA1S	-------ANFIMATG-QALADACQMEPEEV>E<IMATELLKGREAPEGMASSLGCLNL-----	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.E2075A	c.6224A>C	Putative Benign			SIFT: Polyphen: