Paralogue Annotation for ANK2 residue 2714

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2714
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2714

No paralogue variants have been mapped to residue 2714 for ANK2.

ANK2	TFKMNE--DTQEEPGKSEEEKDSESHLAED>R<HAVSTEAEDRSYDKLNRDTDQPKICDGHGC	2744
ANK1	------------------------------>-<------------------------------
ANK3	TFKLKEVDDEQKEKPKASAEKASNQKELES>N<-GSGKDNE-------------------FGL	3373
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2714H	c.8141G>A	Putative Benign		rs142137451	SIFT: 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
p.R2714C	c.8140C>T	Putative Benign		rs376628082	SIFT: tolerated Polyphen: benign