Paralogue Annotation for ANK2 residue 1711

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1711
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 1711

No paralogue variants have been mapped to residue 1711 for ANK2.

ANK2	QKEEGLQASAEKAELKKGSSEESLGEDPGL>A<PEPLPTVKATSPLIEETPIGSIKDKVKALQ	1741
ANK1	------------------------------>-<------------------------------
ANK3	LSSSQEILKDVAEMKEDLMRMTAILQTDVP>E<EKPFQPELPKEGRIDDEEPFKIVEKVKEDL	1955
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1711D	c.5132C>A	Putative Benign		rs147706514	SIFT: Polyphen: possibly damaging
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.A1711V	c.5132C>T	Putative Benign			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