Variant position: 448 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 NAFIICGTLYTVSSYTSADA TVNFAYDTGTG------------------------------------ISKTLTIPFK
Mouse NAFVICGILYTVSSYSSAHA TVNFAYDTKTG----------
Rat NAFVICGILYTVSSYSSVHA TINFAYDTNTG----------
Bovine NAFIICGTLYTVSSYSSPDA TVNFAYDTGTG----------
Rabbit NAFIICGTLYTVSSYSSADA TVNFAYDTGTG----------
Cat NAFIICGRLYTVSSYSAPDA TINFAYDTGTG----------
Slime mold PAPVPGGPAPGGSAIMKPAG GVSKPLPSPTGAPMMKKPAPT
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.
Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma.
Yokoyama A.; Nao-i N.; Date Y.; Nakazato M.; Chumann H.; Chihara E.; Sawada A.; Matsukura S.;
Jpn. J. Ophthalmol. 43:85-88(1999)
Cited for: VARIANT GLC1A PRO-448;
Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.
Ishikawa K.; Funayama T.; Ohtake Y.; Tanino T.; Kurosaka D.; Suzuki K.; Ideta H.; Fujimaki T.; Tanihara H.; Asaoka R.; Naoi N.; Yasuda N.; Iwata T.; Mashima Y.;
J. Glaucoma 13:466-471(2004)
Cited for: VARIANTS GLC1A ASN-360; THR-363; LEU-369 AND PRO-448;
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