Paralogue Annotation for ANK2 residue 940

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 940
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 940

No paralogue variants have been mapped to residue 940 for ANK2.

ANK2	LSHASYLRDSAVMDDSVVIPSHQVSTLAKE>A<ERNSYR-LSWGTENLDNVALSSSPIHSGFL	969
ANK1	VESPAIPRIPCAMPETVVIRSEEQEQASKE>Y<DEDSLIPSSPATETSDNISPVASPVHTGFL	914
ANK3	LNRSSYARDSMMIEELLVPSKEQHLTFTRE>F<DSDSLRHYSWAADTLDNVNLVSSPIHSGFL	985
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A940G	c.2819C>G	Benign			SIFT: tolerated Polyphen: benign
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