Paralogue Annotation for ANK2 residue 3743

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3743
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 3743

No paralogue variants have been mapped to residue 3743 for ANK2.



ANK2VQQDFSGKMQDLPEESSLEYQQE---YFVT>T<PGTETSETQKAM---------------IVP3758
ANK1RQDDATGAGQDSENEVSLVSGHQRGQARIT>H<SPTVSQVTERSQDRLQDWDADGSIVSYLQD1715
ANK3VTGGLLDRLDDSPDQCRDSI-TS---YLKG>E<AGKFEANGSHTE---------------ITP4259
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T3743Ac.11227A>G 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