Paralogue Annotation for ANK2 residue 1851

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1851
Reference Amino Acid: S - Serine
Protein Domain: Repeat-rich region

Paralogue Variants mapped to ANK2 residue 1851

No paralogue variants have been mapped to residue 1851 for ANK2.

ANK2	HSPVSPSAKTERHSPASSSSKTEKHSPVSP>S<TKTERHSPVSSTKTERHPPVSPSGKTDKRP	1881
ANK1	------------------------------>-<------------------------------
ANK3	SEKTPSAPQSAESTGPKPLFHEVPIPPVIT>E<TRTEVVHVIRSYDPSAGDVPQTQPEEPVSP	2194
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1851L	c.5552C>T	Putative Benign		rs150737736	SIFT: Polyphen: possibly damaging
Reports		Unknown		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