Variant position: 426 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 LNPENLE-----LEQTWETN------IRKQS VA---------NAFIICGTLYTVSSYTSAD
Mouse LNPANLE-----LERTWETN------IRKQS VA--------
Rat LNPENLE-----LESTWETN------IRKQS VA--------
Bovine LNPETLE-----LEQTWETN------IRKQS VA--------
Rabbit LNPENLE-----LEKTWETN------IRKQS VA--------
Cat LNPESLE-----LERTWETN------IRKQS VA--------
Slime mold PAPAAPPSGPPVMKKPAPTAPGGAPMMKKPA PAPGGAPMMK
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.
Novel mutations in the TIGR gene in early and late onset open angle glaucoma.
Mansergh F.C.; Kenna P.F.; Ayuso C.; Kiang A.-S.; Humphries P.; Farrar G.J.;
Hum. Mutat. 11:244-251(1998)
Cited for: VARIANTS GLC1A ARG-367 AND PHE-426;
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.
Shimizu S.; Lichter P.R.; Johnson A.T.; Zhou Z.; Higashi M.; Gottfredsdottir M.; Othman M.; Moroi S.E.; Rozsa F.W.; Schertzer R.M.; Clarke M.S.; Schwartz A.L.; Downs C.A.; Vollrath D.; Richards J.E.;
Am. J. Ophthalmol. 130:165-177(2000)
Cited for: VARIANTS GLC1A ARG-252; GLY-272; LYS-323; LEU-370; MET-377; PHE-426; ASN-477 AND SER-499; VARIANTS ASP-57; LYS-76; MET-329 AND ARG-398; CHARACTERIZATION OF VARIANTS GLC1A ARG-252; GLY-272; LYS-323; LEU-370; MET-377; PHE-426; ASN-477 AND SER-499; CHARACTERIZATION OF VARIANTS ASP-57; LYS-76; MET-329 AND ARG-398;
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.