UniProtKB/SwissProt variant VAR

Variant information

Variant position:

320

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

Type of variant:

Disease [Disclaimer]

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 Glutamine (Q) to Proline (P) at position 320 (Q320P, p.Gln320Pro).

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

Involvement in disease:

Deafness, autosomal recessive, 32, with or without immotile sperm (DFNB32) [MIM:608653]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB32 is characterized by prelingual, progressive, moderate to profound sensorineural deafness. Some affected men are infertile. {ECO:0000269|PubMed:27259055, ECO:0000269|PubMed:29293958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In DFNB32.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1339709390 [ dbSNP | Ensembl ]

Sequence information

Variant position:

320

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

Protein sequence length:

594

The length of the canonical sequence.

Location on the sequence:

THAEIIAWIRICRPGSIIGP Q QHFLEEKQASLWVQGDIFRS

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                         THAEIIAWIRICRPGSIIGPQQHFLEEKQASLWVQGDIFRS

Mouse                         THAEIIAWIRICRPGSIIGPQQHFLKEKQASLWVQGDIFRS

Zebrafish                     TSAEAIAWIRICRPGSIIGPQQHYLEEKQASLWAHGDSLRS

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	1 – 594	Dual specificity protein phosphatase CDC14A
Region	177 – 343	B
Alternative sequence	192 – 594	Missing. In isoform 4.

Literature citations

CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Imtiaz A.; Belyantseva I.A.; Beirl A.J.; Fenollar-Ferrer C.; Bashir R.; Bukhari I.; Bouzid A.; Shaukat U.; Azaiez H.; Booth K.T.; Kahrizi K.; Najmabadi H.; Maqsood A.; Wilson E.A.; Fitzgerald T.S.; Tlili A.; Olszewski R.; Lund M.; Chaudhry T.; Rehman A.U.; Starost M.F.; Waryah A.M.; Hoa M.; Dong L.; Morell R.J.; Smith R.J.H.; Riazuddin S.; Masmoudi S.; Kindt K.S.; Naz S.; Friedman T.B.;
Hum. Mol. Genet. 27:780-798(2018)
Cited for: FUNCTION; VARIANTS DFNB32 139-TYR--TYR-594 DEL; GLN-312; GLY-312; PRO-320; 345-ARG--TYR-594 DEL AND 376-ARG--TYR-594 DEL; INVOLVEMENT IN DFNB32;

UniProtKB/Swiss-Prot Q9UNH5: Variant p.Gln320Pro