Paralogue Annotation for ANK2 residue 2336

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2336
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 2336

No paralogue variants have been mapped to residue 2336 for ANK2.



ANK2TEEAACDEGQRTFGSSAHKT-----QTDSE>V<QESTATSDETKALPLPEASVKTD-------2359
ANK1------------------------------>-<------------------------------
ANK3PESKSVDQKNEFMSVTERERKLLTNGSLSE>I<KEMTVKSPSKKVLYR-EYVVKEGDHPGGLL2945
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2336Ac.7007T>C Benignrs28377576SIFT: tolerated
Polyphen: benign
p.V2336Fc.7006G>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