Paralogue Annotation for ANK2 residue 2412

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2412
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2412

No paralogue variants have been mapped to residue 2412 for ANK2.

ANK2	--------AVS-------HKDSLEASPVLE>D<--NSSHKTPDSLEPSPLKESPCRDSLESSP	2440
ANK1	------------------------------>-<------------------------------
ANK3	NSIEDEKVTYSEISKVSKHQSYVGLCPPLE>E<TETSPTKSPDSLEFSPGKESPSSDVFDHSP	3070
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2412G	c.7235A>G	Putative Benign			SIFT: Polyphen:
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