Paralogue Annotation for ANK2 residue 169

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 169
Reference Amino Acid: V - Valine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 169

No paralogue variants have been mapped to residue 169 for ANK2.

ANK2	QENHIDVVKYLLENGANQSTATEDGFTPLA>V<ALQQGHNQAVAILLENDTKGKVRLPALHIA	199
ANK1	QENHLEVVKFLLENGANQNVATEDGFTPLA>V<ALQQGHENVVAHLINYGTKGKVRLPALHIA	180
ANK3	QENHLEVVKFLLDNGASQSLATEDGFTPLA>V<ALQQGHDQVVSLLLENDTKGKVRLPALHIA	209
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V169L	c.505G>T	Putative Benign		rs267599985	SIFT: deleterious Polyphen: possibly damaging