Paralogue Annotation for CACNA1C residue 2091

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2091
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2091

No paralogue variants have been mapped to residue 2091 for CACNA1C.



CACNA1CQELADACDMTIEEMESAADNILSGGAPQSP>N<GALLPFVNCRDAG---QDRAGGEEDA----2114
CACNA1A------------------------------>-<------------------------------
CACNA1BLDSEASVHALPEDTLTFEEAVATNSGRSSR>T<SYVSSLTSQSHPL---RRVPNGYHCTLG-L2321
CACNA1DHEIADACDLTIDEMESAASTLLNGNVRPRA>N<GDVGPLSHRQDYE---LQDFGPGYSD----2159
CACNA1EEDSHAS-DCGEEETLTFEAAVATSLGRSNT>I<GSAPPLRHSW-------QMPNGHYRRRR-R2288
CACNA1FQEIADACRLTLDEMDNAASDLLAQGTSS-->-<----------------------LYSD----1954
CACNA1GRRAPSSDSKDPLASGPPDSMAASPSPKKDV>L<SLSGLSSDPADLD-----------------2376
CACNA1HVPSFAFEPLDLGVPSGDPFLDGSHSVTPES>R<ASSSGAIVPLEPPESEPPMPVGDPPEKRRG2323
CACNA1IRKFSSTSSLAAPGRPHAAALAHGLARSPSW>A<ADRSKDPPGRAPLPMGLGPLAPP-------2204
CACNA1SQALADACQMEPEEVEIMATELLKGREAPEG>M<ASSLGCLNL---------------------1851
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N2091Sc.6272A>G Conflictrs201090446SIFT: deleterious
Polyphen: benign
ReportsOther Cardiac Phenotype Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young. Congenit Heart Dis. 2016 27218670