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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H251: Variant p.Asp2148Asn

Cadherin-23
Gene: CDH23
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Variant information Variant position: help 2148 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 Aspartate (D) to Asparagine (N) at position 2148 (D2148N, p.Asp2148Asn). 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 medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In DFNB12. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2148 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 3354 The length of the canonical sequence.
Location on the sequence: help GNATIDREEQESYRLTVVAT D RGTVPLSGTAIVTILIDDIN 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                         GNATIDREEQESYRLTVVATDRGTVPLSGTAIVTILIDDIN

Mouse                         GNATIDREEQESYRLTVVATDRGTVPLSGTAIVTILIDDIN

Rat                           GNATIDREEQESYRLTVVATDRGTVPLSGTATVTILIDDIN

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 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 2070 – 2174 Cadherin 20
Glycosylation 2129 – 2129 N-linked (GlcNAc...) asparagine
Glycosylation 2168 – 2168 N-linked (GlcNAc...) asparagine
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
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
de Brouwer A.P.M.; Pennings R.J.E.; Roeters M.; Van Hauwe P.; Astuto L.M.; Hoefsloot L.H.; Huygen P.L.M.; van den Helm B.; Deutman A.F.; Bork J.M.; Kimberling W.J.; Cremers F.P.M.; Cremers C.W.R.J.; Kremer H.;
Hum. Genet. 112:156-163(2003)
Cited for: VARIANTS DFNB12 ASN-1341 AND ASN-2148; VARIANTS ILE-2283; GLN-2358 AND LEU-2380;
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.