Variant position: 255 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:
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 NKRSKPDIKMEPSAGRPMDY QVSITVIEARQLVGLNMDPVV
Mouse NKRSKPDIKMEPSAGRPMDY QVSITVIEARQLVGLNMDPVV
Rat NKRSKPDIKMEPSAGRPMDY QVSITVIEARQLVGLNMDPVV
Zebrafish NKRSKPDIKMEPSSGRPVDY QISVTVIEARQLVGLNMDPVV
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
1 – 1997 Otoferlin
1 – 1963 Cytoplasmic
241 – 338 C2 1
1 – 747 Missing. In isoform 2 and isoform 4.
1 – 690 Missing. In isoform 3.
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;
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