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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96QU1: Variant p.Arg134Gly

Protocadherin-15
Gene: PCDH15
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Variant information Variant position: help 134 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glycine (G) at position 134 (R134G, p.Arg134Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In DFNB23. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 134 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1955 The length of the canonical sequence.
Location on the sequence: help IVVQVQCINKKVGTIIYHEV R IVVRDRNDNSPTFKHESYYA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYA

Mouse                         IVVQVQCVNKKVGTVIYHEVRIVVRDRNDNSPTFKHESYYA

Chicken                       IVVQVQCVNKKVGTIINHEVRIVVRDRNDNSPQFQQQRYYV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 27 – 1955 Protocadherin-15
Topological domain 27 – 1376 Extracellular
Domain 40 – 147 Cadherin 1
Alternative sequence 1 – 1118 Missing. In isoform 2.
Beta strand 128 – 138



Literature citations
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;
Disclaimer: 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.