Paralogue Annotation for ANK2 residue 750

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 750
Reference Amino Acid: Q - Glutamine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 750

No paralogue variants have been mapped to residue 750 for ANK2.

ANK2	DQDAHTKLGYTPLIVACHYGNVKMVNFLLK>Q<GANVNAKTKNGYTPLHQAAQQGHTHIINVL	780
ANK1	MVDATTRMGYTPLHVASHYGNIKLVKFLLQ>H<QADVNAKTKLGYSPLHQAAQQGHTDIVTLL	753
ANK3	HVDAQTKMGYTPLHVGCHYGNIKIVNFLLQ>H<SAKVNAKTKNGYTPLHQAAQQGHTHIINVL	782
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q750R	c.2249A>G	Putative Benign		rs371787039	SIFT: deleterious Polyphen: possibly damaging