Paralogue Annotation for ANK2 residue 1903

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1903
Reference Amino Acid: R - Arginine
Protein Domain: Repeat-rich region

Paralogue Variants mapped to ANK2 residue 1903

No paralogue variants have been mapped to residue 1903 for ANK2.

ANK2	GKTDKRPPVSPSGR-TEKHPPVSPG-RTEK>R<LPVSPSGRTDKHQPVSTAG-KTEKHLPVSP	1932
ANK1	------------------------------>-<------------------------------
ANK3	PEEPVSPKPSPTFMELEPKPTTSSIKEKVK>A<FQMKASSEEDDHNRVLSKGMRVKEETHITT	2248
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1903S	c.5707C>A	Putative Benign		rs201325557	SIFT: tolerated Polyphen: benign
p.R1903C	c.5707C>T	Putative Benign		rs201325557	SIFT: deleterious Polyphen: possibly damaging
p.R1903H	c.5708G>A	Putative Benign			SIFT: Polyphen:
p.R1903L	c.5708G>T	Putative Benign			SIFT: Polyphen: