Paralogue Annotation for ANK2 residue 1247

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1247
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 1247

No paralogue variants have been mapped to residue 1247 for ANK2.

ANK2	FGGDA-PTLRLLCSITGGTTPAQWEDITGT>T<PLTFVNECVSFTTNVSARFWLIDCRQIQES	1277
ANK1	GEGDT-TSLRLLCSVIGGTDQAQWEDITGT>T<KLVYANECANFTTNVSARFWLSDCPRTAEA	1222
ANK3	YKGDTTPNLRLLCSITGGTSPAQWEDITGT>T<PLTFIKDCVSFTTNVSARFWLADCHQVLET	1294
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1247M	c.3740C>T	Putative Benign			SIFT: deleterious Polyphen: probably damaging