Variant position: 216 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 454 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 SGHVVTLQCTACGHRRGYSS RIVGGNMSLLSQWPWQASLQF
Mouse SGHVVTLKCSACGTRTGYSP RIVGGNMSSLTQWPWQVSLQF
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 – 454 Transmembrane protease serine 3
70 – 454 Extracellular
216 – 217 Cleavage
221 – 221 N-linked (GlcNAc...) asparagine
207 – 324
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Wattenhofer M.; Sahin-Calapoglu N.; Andreasen D.; Kalay E.; Caylan R.; Braillard B.; Fowler-Jaeger N.; Reymond A.; Rossier B.C.; Karaguzel A.; Antonarakis S.E.;
Hum. Genet. 117:528-535(2005)
Cited for: VARIANTS DFNB8 LEU-216 AND LEU-404;
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