Home  |  Contact

UniProtKB/Swiss-Prot Q9H251: Variant p.Gln1716Pro

Gene: CDH23
Variant information

Variant position:  1716
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glutamine (Q) to Proline (P) at position 1716 (Q1716P, p.Gln1716Pro).
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 medium size and polar (Q) to medium size and hydrophobic (P)
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

Variant description:  In DFNB12.
Any additional useful information about the variant.

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

Sequence information

Variant position:  1716
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  3354
The length of the canonical 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.




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.

Chain 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 1635 – 1744 Cadherin 16
Alternative sequence 1 – 2240 Missing. In isoform 7 and isoform 9.
Alternative sequence 25 – 3127 Missing. In isoform 10 and isoform 11.
Alternative sequence 531 – 3354 Missing. In isoform 5.
Alternative sequence 1213 – 3354 Missing. In isoform 6.

Literature citations

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
Wagatsuma M.; Kitoh R.; Suzuki H.; Fukuoka H.; Takumi Y.; Usami S.;
Clin. Genet. 72:339-344(2007)
Cited for: VARIANTS DFNB12 LEU-240; GLN-301; PRO-1716 AND TRP-2029; VARIANTS TRP-1417; ILE-1711; MET-1807; ASN-1876; ILE-1908; CYS-2171; PRO-2227; ILE-2283; PRO-2473; HIS-2489; VAL-2669; VAL-2801 AND CYS-3175;

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
Miyagawa M.; Nishio S.Y.; Usami S.;
PLoS ONE 7:E40366-E40366(2012)
Cited for: VARIANTS DFNB12 LEU-240; GLN-301; LYS-956; MET-1368; TRP-1417; ALA-1626; PRO-1716; TRP-2029; LYS-2287 AND LYS-2438; VARIANTS ASN-160; ILE-803; ILE-1415; GLY-1443; TRP-1588; ILE-1711; MET-1807; ASN-1876; ILE-1908; VAL-2130; CYS-2171; PRO-2227; PRO-2473; VAL-2669; VAL-2801; SER-2912 AND CYS-3175;

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.