Variant position: 185 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 780 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 SSNGTVLNTTMIDTAARDTA RVLIASALTLLVGIIQLIFGG
Mouse SGNGSALNSTTLDTGTRDAA RVLLASTLTLLVGIIQLVFGG
Rat SGNGSTLNTTTLDTGTRDAA RVLLASTLTLLVGIIQLVFGG
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 – 780 Pendrin
157 – 191 Extracellular
1 – 431 Missing. In isoform 2.
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).
Pourova R.; Janousek P.; Jurovcik M.; Dvorakova M.; Malikova M.; Raskova D.; Bendova O.; Leonardi E.; Murgia A.; Kabelka Z.; Astl J.; Seeman P.;
Ann. Hum. Genet. 74:299-307(2010)
Cited for: VARIANT DFNB4 ILE-281; VARIANTS VAL-6; ALA-144; THR-185 AND SER-597;
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
Chattaraj P.; Reimold F.R.; Muskett J.A.; Shmukler B.E.; Chien W.W.; Madeo A.C.; Pryor S.P.; Zalewski C.K.; Butman J.A.; Brewer C.C.; Kenna M.A.; Alper S.L.; Griffith A.J.;
JAMA Otolaryngol. Head Neck Surg. 139:907-913(2013)
Cited for: VARIANTS DFNB4 THR-185 AND LEU-335; VARIANTS LEU-335; GLY-384; TRP-445; SER-597; CYS-775 AND CYS-776; CHARACTERIZATION OF VARIANT DFNB4 THR-185;
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.