Paralogue Annotation for ANK2 residue 312

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 312
Reference Amino Acid: D - Aspartate
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 312

No paralogue variants have been mapped to residue 312 for ANK2.

ANK2	VKLLLDRGGQIDAKTRDGLTPLHCAARSGH>D<QVVELLLERGAPLLARTKNGLSPLHMAAQG	342
ANK1	VRLLLDRGAQIETKTKDELTPLHCAARNGH>V<RISEILLDHGAPIQAKTKNGLSPIHMAAQG	315
ANK3	VKLLLDRGAKIDAKTRDGLTPLHCGARSGH>E<QVVEMLLDRAAPILSKTKNGLSPLHMATQG	344
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D312E	c.936C>A	Putative Benign			SIFT: Polyphen: