Paralogue Annotation for ANK2 residue 3523

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3523
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3523

No paralogue variants have been mapped to residue 3523 for ANK2.

ANK2	HSVPEDIFDTRPIWDESIETLIERIPDENG>H<DHAEDPQDEQERIEERLAYIADHLGFSWTE	3553
ANK1	------------------------------>-<----GSLSGTEQAEMKMAVISEHLGLSWAE	1420
ANK3	SVTTKSARDKKTEAA-PLKSKSEKAGSEKR>S<SRRTGPQSPCERTDIRMAIVADHLGLSWTE	4107
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H3523R	c.10568A>G	Unknown			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