UniProtKB/Swiss-Prot Q9H251: Variant p.Val1620Met

Cadherin-23
Gene: CDH23
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Variant information Variant position:

1620 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 Valine (V) to Methionine (M) at position 1620 (V1620M, p.Val1620Met). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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.

Variant rs41281330 [ dbSNP | Ensembl ]

Sequence information Variant position:

1620 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3354 The length of the canonical sequence.
Location on the sequence:

YHLVATVEDEGTPTLSATTH V YVTIVDENDNAPMFQQPHYE 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                         YHLVATVEDEGTPTLSATTHVYVTIVDENDNAPMFQQPHYE

Mouse                         YHLVVTVEDEGTPTLSATTHVYVTIVDENDNAPVFQQPHYE

Rat                           YHLVVTVEDEGTPTLSATTHVYVTIVDENDNAPVFQQPHYE

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
Chain	24 – 3354	Cadherin-23
Topological domain	24 – 3064	Extracellular
Domain	1529 – 1634	Cadherin 15
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
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Astuto L.M.; Bork J.M.; Weston M.D.; Askew J.W.; Fields R.R.; Orten D.J.; Ohliger S.J.; Riazuddin S.; Morell R.J.; Khan S.; Riazuddin S.; Kremer H.; van Hauwe P.; Moller C.G.; Cremers C.W.R.J.; Ayuso C.; Heckenlively J.R.; Rohrschneider K.; Spandau U.; Greenberg J.; Ramesar R.; Reardon W.; Bitoun P.; Millan J.; Legge R.; Friedman T.B.; Kimberling W.J.;
Am. J. Hum. Genet. 71:262-275(2002)
Cited for: VARIANTS DFNB12 GLY-124; SER-452; GLN-480; GLN-582; TRP-1060; ASP-1186; PRO-1586; LYS-1595; ASN-1846; TRP-2465 AND HIS-2608; VARIANTS USH1D PRO-484; ARG-1206; ALA-1209; GLY-2517; SER-2744; GLY-2833 AND HIS-3175; VARIANTS CYS-3; ALA-490; ASN-496; THR-1222; GLN-1437; MET-1620; ILE-1675; GLN-1804; ILE-1887; SER-1999; LYS-2044; GLN-2066; ILE-2283; GLN-2358; LEU-2380; GLN-2588; GLU-2933; ASN-2954 AND SER-2962;

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.