UniProtKB/Swiss-Prot Q9H251: Variant p.Ala3080Thr

Cadherin-23
Gene: CDH23
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Variant information Variant position:

3080 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 Alanine (A) to Threonine (T) at position 3080 (A3080T, p.Ala3080Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs369395479 [ dbSNP | Ensembl ]

Sequence information Variant position:

3080 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:

DDMSALQMAIIVLAILLFLA A MLFVLMNWYYRTVHKRKLKA 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                         DDMSALQMAIIVLAILLFLAAMLFVLMNWYYRTVHKRKLKA

Mouse                         DDMSALQMAIIVLAILLFLAAMLFVLMNWYYRTIHKRKLKA

Rat                           DDMSALQMAIIVLAILLFLAAMLFVLMNWYYRTIHKRKLKA

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
Transmembrane	3065 – 3085	Helical
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
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo H.M.; Park H.J.; Park M.H.; Kim B.Y.; Shin J.W.; Yoo W.G.; Koo S.K.;
BMC Med. Genet. 15:46-46(2014)
Cited for: VARIANTS DFNB12 LEU-240; SER-342 AND LYS-1595; VARIANTS SER-361; MET-424; ASN-428; ALA-490; ASN-496; GLN-964; HIS-1010; SER-1118; ALA-1335; ASP-1351; GLN-1437; THR-1575; TRP-1588; ILE-1675; GLN-1804; GLU-1806; SER-1999; LYS-2044; ILE-2283; GLN-2358; LEU-2380; VAL-2531; VAL-2801; THR-3080 AND LEU-3125;

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.