Variant position: 127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 426 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AAKGKVKAKPPADPAAAASP CRAAAGGQGSAVAAEAEPGKE
Mouse AS----RVPGPEDAAQARS- ------GPGP-----AEPGSE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 426 Egl nine homolog 1
65 – 129 Disordered
125 – 125 Phosphoserine
58 – 175 CQGSEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADPAAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSP -> LLGGYRFAFSWNSDERA. In isoform 3.
Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing.
Song D.; Li L.S.; Arsenault P.R.; Tan Q.; Bigham A.W.; Heaton-Johnson K.J.; Master S.R.; Lee F.S.;
J. Biol. Chem. 289:14656-14665(2014)
Cited for: VARIANTS GLU-4 AND SER-127; POLYMORPHISM; INTERACTION WITH PTGES3; CHARACTERIZATION OF VARIANTS GLU-4 AND SER-127;
A genetic mechanism for Tibetan high-altitude adaptation.
Lorenzo F.R.; Huff C.; Myllymaeki M.; Olenchock B.; Swierczek S.; Tashi T.; Gordeuk V.; Wuren T.; Ri-Li G.; McClain D.A.; Khan T.M.; Koul P.A.; Guchhait P.; Salama M.E.; Xing J.; Semenza G.L.; Liberzon E.; Wilson A.; Simonson T.S.; Jorde L.B.; Kaelin W.G. Jr.; Koivunen P.; Prchal J.T.;
Nat. Genet. 46:951-956(2014)
Cited for: VARIANTS GLU-4 AND SER-127; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; POLYMORPHISM; CHARACTERIZATION OF VARIANTS GLU-4 AND SER-127;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.