Variant position: 509 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 683 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 GTLFTMDRVLTPPMGTVMDV LKGDNRFSMLVAAIQSAGLTE
Mouse GTLFTMDRMLTPPMGTVMDV LKGDNRFSMLVAAIQSAGLME
Pig GTLFTMDRMLTPPMGTVMDV LKGDNRFSMLVAAIQSAGLTE
Bovine GTLFTMDRMLTPPMGTVMDV LKGDNRFSMLVAAIQSAGLTE
Rabbit GTLFTMDRMLTPPSGTVMDV LKGDNRFSMLVAAIQFRRLTE
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
24 – 683 Transforming growth factor-beta-induced protein ig-h3
502 – 632 FAS1 4
505 – 509
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
Boutboul S.; Black G.C.M.; Moore J.E.; Sinton J.; Menasche M.; Munier F.L.; Laroche L.; Abitbol M.; Schorderet D.F.;
Hum. Mutat. 27:553-557(2006)
Cited for: VARIANTS EBMD ARG-509 AND SER-666;
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