Variant position: 194 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 HLLPDDKVTALHHSVYVREG CASGHVVTLQCTACGHRRGYS
Mouse HLLSDDKVTALHHSVYMREG CTSGHVVTLKCSACGTRTGYS
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.
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Guipponi M.; Vuagniaux G.; Wattenhofer M.; Shibuya K.; Vazquez M.; Dougherty L.; Scamuffa N.; Guida E.; Okui M.; Rossier C.; Hancock M.; Buchet K.; Reymond A.; Hummler E.; Marzella P.L.; Kudoh J.; Shimizu N.; Scott H.S.; Antonarakis S.E.; Rossier B.C.;
Hum. Mol. Genet. 11:2829-2836(2002)
Cited for: SUBCELLULAR LOCATION; AUTOCATALYTIC CLEAVAGE; MUTAGENESIS OF SER-401; CHARACTERIZATION OF VARIANTS DFNB8 GLY-103; TRP-109; PHE-194; CYS-251; LEU-404 AND ARG-407; FUNCTION IN ENAC CLEAVAGE;
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.