Paralogue Annotation for ANK2 residue 482

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 482
Reference Amino Acid: C - Cysteine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 482

No paralogue variants have been mapped to residue 482 for ANK2.

ANK2	QNGASPDVTNIRGETALHMAARAGQVEVVR>C<LLRNGALVDARAREEQTPLHIASRLGKTEI	512
ANK1	QRGASPNVSNVKVETPLHMAARAGHTEVAK>Y<LLQNKAKVNAKAKDDQTPLHCAARIGHTNM	485
ANK3	HHGASPNTTNVRGETALHMAARSGQAEVVR>Y<LVQDGAQVEAKAKDDQTPLHISARLGKADI	514
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C482F	c.1445G>T	Putative Benign			SIFT: tolerated Polyphen: probably damaging