Paralogue Annotation for ANK2 residue 1939

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1939
Reference Amino Acid: Q - Glutamine
Protein Domain: Repeat-rich region


Paralogue Variants mapped to ANK2 residue 1939

No paralogue variants have been mapped to residue 1939 for ANK2.



ANK2GRTDKHQPVSTAG-KTEKHLPVSPSGKTEK>Q<PPVSPTSKTERIEETMSVRELMKAFQSGQD1969
ANK1------------------------------>-<------------------------------
ANK3SEEDDHNRVLSKGMRVKEETHITTTTRMVY>H<SPPGGEGASERIEETMSVHDIMKAFQSGRD2285
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1939Kc.5815C>A Putative BenignSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510