Paralogue Annotation for ANK2 residue 3258

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3258
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3258

No paralogue variants have been mapped to residue 3258 for ANK2.

ANK2	LTRSVYSDRGDDSPDSSPEEQKSVIEIPTA>P<MENVPFTESKSKIPVRTMPTSTPAPPSAEY	3288
ANK1	------------------------------>-<------------------------------
ANK3	FQKDNFNNN--NNLDSSTIQTDNI------>-<MSNIVLTEH--SAPTCTTEKDNPVKVSSGK	3830
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3258R	c.9773C>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