Variant position: 176 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 219 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 EVRRMCGEQTGKYTLGHCTI RWAFMLAILSIGDALILSFLA
Mouse EVRRMCGEQTGKYTLGHCTI RWAFMLAILSIGDALILSFLA
Rat EVRRMCGEQTGKYTLGHCTI RWAFMLAILSIGDALILSFLA
Chicken EVKRMCGDKTDKYTLGACTV RWAYILCIIGILDALILSFLA
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 – 219 LHFPL tetraspan subfamily member 5 protein
150 – 178 Extracellular
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E.; Li Y.; Uzumcu A.; Uyguner O.; Collin R.W.; Caylan R.; Ulubil-Emiroglu M.; Kersten F.F.J.; Hafiz G.; van Wijk E.; Kayserili H.; Rohmann E.; Wagenstaller J.; Hoefsloot L.H.; Strom T.M.; Nuernberg G.; Baserer N.; den Hollander A.I.; Cremers F.P.M.; Cremers C.W.R.J.; Becker C.; Brunner H.G.; Nuernberg P.; Karaguzel A.; Basaran S.; Kubisch C.; Kremer H.; Wollnik B.;
Hum. Mutat. 27:633-639(2006)
Cited for: VARIANTS DFNB67 MET-165 AND LEU-176;
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