Paralogue Annotation for ANK2 residue 2036

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2036
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2036

No paralogue variants have been mapped to residue 2036 for ANK2.

ANK2	-------KRGQRLPVTGTAESKR-----GV>R<VSSIGVKKEDAAGGKEKVL-----------	2055
ANK1	------------------------------>-<------------------------------
ANK3	DAFPCSEEQGQQEEEELTAEESLPSYLESS>R<VNTPVSQEEDSRPSSAQLISDDSYKTLKLL	2441
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2036H	c.6107G>A	Putative Benign		rs149645600	SIFT: Polyphen: possibly damaging
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510
p.R2036C	c.6106C>T	Putative Benign			SIFT: Polyphen: