Paralogue Annotation for ANK2 residue 3881

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3881
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3881

No paralogue variants have been mapped to residue 3881 for ANK2.

ANK2	YIDEHGHTVVKKVTRKIIRRYVSSE---GT>E<KEEIMVQGMPQEPVNIEEGDGYSKVIK-RV	3910
ANK1	FTDEQGNIVTKKIIRKVVRQIDLSSADAAQ>E<HEEVELRGSGLQPDLI-EGRKGAQIVKRAS	1874
ANK3	----------------------------GS>E<Q--------------K-QGEGFKVKTK-KE	4367
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3881D	c.11643G>C	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