Paralogue Annotation for ANK2 residue 549

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 549
Reference Amino Acid: L - Leucine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 549

No paralogue variants have been mapped to residue 549 for ANK2.

ANK2	HMAHPDAATTNGYTPLHISAREGQVDVASV>L<LEAGAAHSLATKKGFTPLHVAAKYGSLDVA	579
ANK1	NNANPNLATTAGHTPLHIAAREGHVETVLA>L<LEKEASQACMTKKGFTPLHVAAKYGKVRVA	552
ANK3	QGASPNAATTSGYTPLHLSAREGHEDVAAF>L<LDHGASLSITTKKGFTPLHVAAKYGKLEVA	581
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L549I	c.1645C>A	Putative Benign			SIFT: deleterious Polyphen: possibly damaging
p.L549P	c.1646T>C	Putative Benign			SIFT: deleterious Polyphen: probably damaging