Variant position: 53 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 ADAVAAQILSLLPLKFFPII VIGIIALILALAIGLGIHFDC
Mouse GDAVAAQILSLLPLKFFPII VIGIIALILALAIGLGIHFDC
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
49 – 69 Helical; Signal-anchor for type II membrane protein
1 – 127 Missing. In isoform B.
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Scott H.S.; Kudoh J.; Wattenhofer M.; Shibuya K.; Berry A.; Chrast R.; Guipponi M.; Wang J.; Kawasaki K.; Asakawa S.; Minoshima S.; Younus F.; Mehdi S.Q.; Radhakrishna U.; Papasavvas M.P.; Gehrig C.; Rossier C.; Korostishevsky M.; Gal A.; Shimizu N.; Bonne-Tamir B.; Antonarakis S.E.;
Nat. Genet. 27:59-63(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND D); VARIANT ILE-53;
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Ben-Yosef T.; Wattenhofer M.; Riazuddin S.; Ahmed Z.M.; Scott H.S.; Kudoh J.; Shibuya K.; Antonarakis S.E.; Bonne-Tamir B.; Radhakrishna U.; Naz S.; Ahmed Z.; Riazuddin S.; Pandya A.; Nance W.E.; Wilcox E.R.; Friedman T.B.; Morell R.J.;
J. Med. Genet. 38:396-400(2001)
Cited for: VARIANTS DFNB8 TRP-109; PHE-194 AND ARG-407; VARIANTS ILE-53; SER-111 AND VAL-253;
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