Variant position: 138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1012 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 NPTSSLYKSLVSGSDKENQK GFLMHFLKELAEYHQAKESCN
Mouse NPSSSLYKSLISGFDKENKK GFLMSFLKELAEYYQAKESCD
Zebrafish SPHMPLYKSLVSNI-QSGQS GFLKSLLMELTDHSVYRDCSD
Fission yeast VRDALYSEEFRSHVQKITGC GPLSASKKDLS-VNVYSKGCH
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
1 – 1012 Oral-facial-digital syndrome 1 protein
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Thauvin-Robinet C.; Cossee M.; Cormier-Daire V.; Van Maldergem L.; Toutain A.; Alembik Y.; Bieth E.; Layet V.; Parent P.; David A.; Goldenberg A.; Mortier G.; Heron D.; Sagot P.; Bouvier A.M.; Huet F.; Cusin V.; Donzel A.; Devys D.; Teyssier J.R.; Faivre L.;
J. Med. Genet. 43:54-61(2006)
Cited for: VARIANT OFD1 SER-138;
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