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UniProtKB/Swiss-Prot Q9HC10: Variant p.Ala964Glu

Otoferlin
Gene: OTOF
Chromosomal location: 2p23.1
Variant information

Variant position:  964
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 Alanine (A) to Glutamate (E) at position 964 (A964E, p.Ala964Glu).
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 acidic (E)
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:  Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive. {ECO:0000269|PubMed:16371502, ECO:0000269|PubMed:18381613}. 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 AUNB1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  964
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1997
The length of the canonical sequence.

Location on the sequence:   LHAFPPVSLVYTKKQAFQLR  A HMYQARSLFAADSSGLSDPF
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                         LHAFPPVSLVYTKKQAFQLRAHMYQARSLFAADSSGLSDPF

Mouse                         LHSFPPISLVYTKKQAFQLRAHMYQARSLFAADSSGLSDPF

Rat                           LHSFPPISLVYTKKQTFQLRAHMYQARSLFAADSTGLSDPF

Zebrafish                     IQAVPPISLVYNMKQVFQLRAHMYQARSLFAADTSGLSDPF

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.

TypePositionsDescription
Chain 1 – 1997 Otoferlin
Topological domain 1 – 1963 Cytoplasmic
Domain 947 – 1052 C2 3


Literature citations

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodriguez-Ballesteros M.; Reynoso R.; Olarte M.; Villamar M.; Morera C.; Santarelli R.; Arslan E.; Meda C.; Curet C.; Voelter C.; Sainz-Quevedo M.; Castorina P.; Ambrosetti U.; Berrettini S.; Frei K.; Tedin S.; Smith J.; Cruz Tapia M.; Cavalle L.; Gelvez N.; Primignani P.; Gomez-Rosas E.; Martin M.; Moreno-Pelayo M.A.; Tamayo M.; Moreno-Barral J.; Moreno F.; del Castillo I.;
Hum. Mutat. 29:823-831(2008)
Cited for: VARIANTS AUNB1 HIS-255; GLU-964; PRO-1138 AND CYS-1795; VARIANTS GLN-1236 AND LYS-1688;

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.