Paralogue Annotation for ANK2 residue 1791

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1791
Reference Amino Acid: S - Serine
Protein Domain: Repeat-rich region


Paralogue Variants mapped to ANK2 residue 1791

No paralogue variants have been mapped to residue 1791 for ANK2.



ANK2KEDVPKKTTHRPHPAASPSLKSERHAPGSP>S<PKTERHSTLSS-------------------1802
ANK1------------------------------>-<------------------------------
ANK3FEDAKKDGEERQKRVLKPAIALQEHKLKMP>P<ASMRTSTSEKELCKMADSFFGTDTILESPD2113
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1791Pc.5371T>C Putative BenignSIFT: tolerated
Polyphen: possibly damaging
ReportsPutative Benign Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. 2005 2(11):1218-23. 16253912