Variant position: 480 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 SKTLTIPFKNRYK-----YSSMIDY NPLEKKLFAWDNLNMVTYDIK
Mouse SKTLTIPFTNRYK-----YSSMIDY NPLERKLFAWDNFNMV
Rat SKTLTIPFKNRYK-----YSSMVDY NPLERKLFAWDNFNMV
Bovine SKALTVPFKNRYK-----YSSMIDY NPLERKLFAWDNFNMV
Rabbit SKPLAIPFKNRYK-----YSSMIDY NPLERKLFAWDSFNMV
Cat SRALTVPFKNRYK-----YSSMVDY NPLEKKLFAWDNFNMV
Slime mold AKPQPTPMKKPAAPPPQQYIALYEY DAMQPDELTFKENDVI
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.
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.
Adam M.F.; Belmouden A.; Binisti P.; Brezin A.P.; Valtot F.; Bechetoille A.; Dascotte J.-C.; Copin B.; Gomez L.; Chaventre A.; Bach J.-F.; Garchon H.-J.;
Hum. Mol. Genet. 6:2091-2097(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLC1A ARG-246; LEU-370; SER-477; LYS-480 AND PHE-499;
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.
Melki R.; Belmouden A.; Brezin A.; Garchon H.-J.;
Hum. Mutat. 22:179-179(2003)
Cited for: VARIANTS GLC1A ARG-367; ILE-438; LYS-480 AND PHE-499; VARIANTS SER-57; LYS-76 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.