UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1351

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

Type of variant:

Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Asparagine (N) to Aspartate (D) at position 1351 (N1351D, p.Asn1351Asp).

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 (N) to medium size and acidic (D)

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 rs1227065 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1351

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:

EIVRVQAYSIDNLNQITYRF N AYTSTQAKALFKIDAITGVI

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                         EIVRVQAYSIDNLNQITYRFNAYTSTQAKALFKIDAITGVI

Mouse                         EIVRVQAYSIDNLNQITYRFDAYTSAQAKALFKIDAITGVI

Rat                           EIVRVQAYSIDNLNQITYRFDAYTSAQAKALFKIDAITGVI

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	1314 – 1418	Cadherin 13
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

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H.; Von Brederlow B.; Ramirez A.; Bryda E.C.; Kutsche K.; Nothwang H.G.; Seeliger M.; Del C.-Salcedo Cabrera M.; Vila Caballero M.; Pelaez Molina O.; Gal A.; Kubisch C.;
Nat. Genet. 27:108-112(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANTS USH1D MET-1281 DEL; HIS-1496 AND GLN-1746; VARIANTS CYS-3; ALA-490; ASN-496; THR-1222; CYS-1349; ASP-1351; THR-1575; SER-1671; ILE-1675; GLN-1804; SER-1999; LYS-2044; GLN-2358; LEU-2380; GLN-2588 AND LEU-3125;

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
Bork J.M.; Peters L.M.; Riazuddin S.; Bernstein S.L.; Ahmed Z.M.; Ness S.L.; Polomeno R.; Ramesh A.; Schloss M.; Srisailpathy C.R.S.; Wayne S.; Bellman S.; Desmukh D.; Ahmed Z.; Khan S.N.; Kaloustian V.M.D.; Li X.C.; Lalwani A.; Riazuddin S.; Bitner-Glindzicz M.; Nance W.E.; Liu X.-Z.; Wistow G.; Smith R.J.H.; Griffith A.J.; Wilcox E.R.; Friedman T.B.; Morell R.J.;
Am. J. Hum. Genet. 68:26-37(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 803-3354; ALTERNATIVE SPLICING; VARIANTS DFNB12 ASN-990; ASP-1351; THR-1575; ASN-2045; ASN-2202; ASN-2950; CYS-2956 AND THR-3059;

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
Oshima A.; Jaijo T.; Aller E.; Millan J.M.; Carney C.; Usami S.; Moller C.; Kimberling W.J.;
Hum. Mutat. 29:E37-E46(2008)
Cited for: VARIANTS USH1D THR-366; TYR-755; ILE-1090; SER-1098; HIS-1496; LEU-1788; TRP-1912; ASN-1930; SER-2017; VAL-2376; ILE-2530; SER-2771 AND ALA-2968; VARIANTS ALA-490; ASN-496; ILE-746; GLY-944; LYS-960; THR-1222; GLN-1236; SER-1282; CYS-1349; ASP-1351; GLN-1437; MET-1520; THR-1574; ILE-1675; SER-1999; ILE-2283; LEU-2380; GLN-2588 AND LEU-3125;

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;

UniProtKB/Swiss-Prot Q9H251: Variant p.Asn1351Asp