Paralogue Annotation for ANK2 residue 2478

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2478
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2478

No paralogue variants have been mapped to residue 2478 for ANK2.

ANK2	----------AAVAKTELLTEVASVRSRLL>R<DPDGSAEDDSLEQTSLMESSGKSPLSPDTP	2508
ANK1	------------------------------>-<------------------------------
ANK3	GGVKKIISQECKTVQETRGTFYTTRQQKQP>P<SPQGSPEDDTLEQVSFLDSSGKSPLTPETP	3172
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2478Q	c.7433G>A	Putative Benign		rs142684331	SIFT: Polyphen: probably damaging