Paralogue Annotation for ANK2 residue 3340

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3340
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3340

No paralogue variants have been mapped to residue 3340 for ANK2.

ANK2	KSKLPVKVPLQR--VEQQLSDLDTSVQKTV>A<P-QGQDMASIAPDNRSKSESDASSLDSKTK	3369
ANK1	------------------------------>-<------------------------------
ANK3	KTKELIGIRQKSKLPIKATSPKDTFPPNHM>S<NTKASKMKQVSQSEKTKALTTSSCVDVKSR	3912
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3340V	c.10019C>T	Putative Benign		rs371358639	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