Paralogue Annotation for ANK2 residue 2504

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2504
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2504

No paralogue variants have been mapped to residue 2504 for ANK2.

ANK2	SRLLRDPDGSAEDDSLEQTSLMESSGKSPL>S<PDTPSSEEVSYEVTPKTTDVS--------T	2526
ANK1	------------------------------>-<------------------------------
ANK3	QKQPPSPQGSPEDDTLEQVSFLDSSGKSPL>T<PETPSSEEVSYEFTSKTPDSLIAYIPGKPS	3198
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2504F	c.7511C>T	Putative Benign		rs267599989	SIFT: deleterious Polyphen: probably damaging