Paralogue Annotation for ANK2 residue 3248

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3248
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3248

No paralogue variants have been mapped to residue 3248 for ANK2.

ANK2	AVQVQLDFSTLTRSVYSDRGDDSPDSSPEE>Q<KSVIEIPTAPMENVPFTESKSKIPVRTMPT	3278
ANK1	------------------------------>-<------------------------------
ANK3	GVRPHEK-HDFQKDNFNNN--NNLDSSTIQ>T<DNI-------MSNIVLTEH--SAPTCTTEK	3820
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q3248E	c.9742C>G	Putative Benign		rs372534074	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