Paralogue Annotation for ANK2 residue 1117

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1117
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 1117

No paralogue variants have been mapped to residue 1117 for ANK2.

ANK2	ILNGMDEVLDSPEDLEKKRICRIITRDFPQ>Y<FAVVSRIKQDSNLIGPEGGVLSSTVVPQVQ	1147
ANK1	ILNGMDEELGSLEELEKKRVCRIITTDFPL>Y<FVIMSRLCQDYDTIGPEGGSLKSKLVPLVQ	1092
ANK3	LLNGMDEELDSPEELGKKRICRIITKDFPQ>Y<FAVVSRIKQESNQIGPEGGILSSTTVPLVQ	1163
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1117H	c.3349T>C	Putative Benign			SIFT: Polyphen: