Variant position: 134 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1955 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 IVVQVQCINKKVGTIIYHEV RIVVRDRNDNSPTFKHESYYA
Mouse IVVQVQCVNKKVGTVIYHEV RIVVRDRNDNSPTFKHESYYA
Chicken IVVQVQCVNKKVGTIINHEV RIVVRDRNDNSPQFQQQRYYV
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
27 – 1955 Protocadherin-15
27 – 1376 Extracellular
40 – 147 Cadherin 1
1 – 1118 Missing. In isoform 2.
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Ahmed Z.M.; Riazuddin S.; Ahmad J.; Bernstein S.L.; Guo Y.; Sabar M.F.; Sieving P.; Riazuddin S.; Griffith A.J.; Friedman T.B.; Belyantseva I.A.; Wilcox E.R.;
Hum. Mol. Genet. 12:3215-3223(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS DFNB23 GLY-134 AND ASP-262;
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
Ahmed Z.M.; Riazuddin S.; Aye S.; Ali R.A.; Venselaar H.; Anwar S.; Belyantseva P.P.; Qasim M.; Riazuddin S.; Friedman T.B.;
Hum. Genet. 124:215-223(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5); TISSUE SPECIFICITY; VARIANT DFNB23 GLY-134; VARIANT USH1DF GLY-178;
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.