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UniProtKB/Swiss-Prot Q96QU1: Variant p.Arg929Gln

Protocadherin-15
Gene: PCDH15
Variant information

Variant position:  929
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Arginine (R) to Glutamine (Q) at position 929 (R929Q, p.Arg929Gln).
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:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  929
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:   IATVTVIVKDMNDYPPVFSK  R IYKGMVAPDAVKGTPITTVY
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                         IATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVY

Mouse                         IATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVY

Chicken                       LATVTVRVKDMNDYSPVFSKTLYRGMVAPDAVKGTVITTVS

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.

TypePositionsDescription
Chain 27 – 1955 Protocadherin-15
Topological domain 27 – 1376 Extracellular
Domain 927 – 1035 Cadherin 9
Alternative sequence 1 – 1118 Missing. In isoform 2.
Beta strand 929 – 935


Literature citations

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam K.N.; Yuan H.; Kuehn M.H.; Murcia C.L.; Wayne S.; Srisailpathy C.R.S.; Lowry R.B.; Knaus R.; Van Laer L.; Bernier F.P.; Schwartz S.; Lee C.; Morton C.C.; Mullins R.F.; Ramesh A.; Van Camp G.; Hagemen G.S.; Woychik R.P.; Smith R.J.H.;
Hum. Mol. Genet. 10:1709-1718(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; INVOLVEMENT IN USHER SYNDROME TYPE 1F; VARIANT GLN-929;

The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3); VARIANTS ALA-435 AND GLN-929;

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Jaijo T.; Oshima A.; Aller E.; Carney C.; Usami S.; Millan J.M.; Kimberling W.J.;
Mol. Vis. 18:1719-1726(2012)
Cited for: VARIANTS USH1F GLN-134 AND ALA-1161 (ISOFORM 4); VARIANTS ALA-19; SER-174; SER-380; ALA-435; GLN-929 AND SER-1273;

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.