Variant position: 1011 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 NQSQCTEVLNETLCPTWDQM LVFDNLELYGEAHELRDDPPI
Mouse NQSQCTEVLNETLCPTWDQM LVFDNLELYGEAHELRDDPPI
Rat NQSQCTEVLNETLCPTWDQM LVFDNLELYGEAHELRDDPPI
Zebrafish THSQVTEVLSETLCPTWDQL LVFDNVELYGEAGELRDDPPI
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.
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
Tekin M.; Akcayoz D.; Incesulu A.;
Am. J. Med. Genet. A 138:6-10(2005)
Cited for: VARIANT DFNB9 PRO-1011;
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
Varga R.; Avenarius M.R.; Kelley P.M.; Keats B.J.; Berlin C.I.; Hood L.J.; Morlet T.G.; Brashears S.M.; Starr A.; Cohn E.S.; Smith R.J.H.; Kimberling W.J.;
J. Med. Genet. 43:576-581(2006)
Cited for: VARIANTS DFNB9 GLN-490; HIS-794 AND ALA-1825; VARIANTS AUNB1 THR-515; PRO-1011; GLN-1939 AND ARG-1987; VARIANTS VAL-53; CYS-82; MET-575; SER-773; TRP-822; PRO-1083; GLN-1157; GLU-1322; MET-1625; SER-1646 AND ASP-1888;
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.