Paralogue Annotation for ANK2 residue 2477

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2477
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2477

No paralogue variants have been mapped to residue 2477 for ANK2.

ANK2	-----------AAVAKTELLTEVASVRSRL>L<RDPDGSAEDDSLEQTSLMESSGKSPLSPDT	2507
ANK1	------------------------------>-<------------------------------
ANK3	QGGVKKIISQECKTVQETRGTFYTTRQQKQ>P<PSPQGSPEDDTLEQVSFLDSSGKSPLTPET	3171
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2477R	c.7430T>G	Putative Benign			SIFT: deleterious Polyphen: probably damaging