Variant position: 437 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 504 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 WETN------IRKQSVA---------NAFIICGTL YTVSSYTSADATVNFAYDTGT
Mouse WETN------IRKQSVA---------NAFVICGIL YTVSSY
Rat WETN------IRKQSVA---------NAFVICGIL YTVSSY
Bovine WETN------IRKQSVA---------NAFIICGTL YTVSSY
Rabbit WETN------IRKQSVA---------NAFIICGTL YTVSSY
Cat WETN------IRKQSVA---------NAFIICGRL YTVSSY
Slime mold APTAPGGAPMMKKPAPAPGGAPMMKKPAPVPGGPA PGGSAI
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.
Identification of a gene that causes primary open angle glaucoma.
Stone E.M.; Fingert J.H.; Alward W.L.M.; Nguyen T.D.; Polansky J.R.; Sunden S.L.F.; Nishimura D.; Clark A.F.; Nystuen A.; Nichols B.E.; Mackey D.A.; Ritch R.; Kalenak J.W.; Craven E.R.; Sheffield V.C.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS GLC1A VAL-364 AND HIS-437;
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.
Wiggs J.L.; Allingham R.R.; Vollrath D.; Jones K.H.; De La Paz M.; Kern J.; Patterson K.; Babb V.L.; Del Bono E.A.; Broomer B.W.; Pericak-Vance M.A.; Haines J.L.;
Am. J. Hum. Genet. 63:1549-1552(1998)
Cited for: VARIANTS GLC1A LYS-352; LEU-370; MET-377 AND HIS-437;
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.