Paralogue Annotation for ANK2 residue 1993

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1993
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 1993

No paralogue variants have been mapped to residue 1993 for ANK2.



ANK2AFQSGQDPSKHKTGLFEHKSAKQKQPQEKG>K<VR--------------------VEKEKGPI2003
ANK1------------------------------>-<------------------------------
ANK3AFQSGRDPSKELAGLFEHKSAVSPDVHKSA>A<ETSAQHAEKDNQMKPKLERIIEVHIEKGNQ2339
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1993Nc.5979A>T 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