Variant position: 329 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 492 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 TAFAGILRQSFMFYGAGYQV EKVISHPNYDSKTKNNDIALM
Mouse TAFAGILRQSLMFYGSRHQV EKVISHPNYDSKTKNNDIALM
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
256 – 492 Transmembrane protease serine 2 catalytic chain
106 – 492 Extracellular
256 – 489 Peptidase S1
345 – 345 Charge relay system
244 – 365 Interchain (between non-catalytic and catalytic chains)
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3.
Paoloni-Giacobino A.; Chen H.; Peitsch M.C.; Rossier C.; Antonarakis S.E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MET-160 AND GLN-329;
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Guipponi M.; Toh M.-Y.; Tan J.; Park D.; Hanson K.; Ballana E.; Kwong D.; Cannon P.Z.F.; Wu Q.; Gout A.; Delorenzi M.; Speed T.P.; Smith R.J.H.; Dahl H.-H.M.; Petersen M.; Teasdale R.D.; Estivill X.; Park W.J.; Scott H.S.;
Hum. Mutat. 29:130-141(2008)
Cited for: VARIANTS MET-160; CYS-254; GLN-329 AND ASN-491;
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