Variant position: 117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 550 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 GRENYSSVDANGIQSQMLSR WSASFTVTKGKSS-TQEATGQA
Mouse GRENYSSVDANGIQSQMLSR WSASFAVTKGKSS-TQEATGR
Bovine GRENYSSVVANGIQSQMLSR WSASFTVTKGKSG-TQEATGQ
Chicken GQENYPAVHANGIQSQVLSR WASSFSVTPGTNNLALEAVGR
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.
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
Robertson N.G.; Lu L.; Heller S.; Merchant S.N.; Eavey R.D.; McKenna M.; Nadol J.B. Jr.; Miyamoto R.T.; Linthicum F.H. Jr.; Neto J.F.L.; Hudspeth A.J.; Seidman C.E.; Morton C.C.; Seidman J.G.;
Nat. Genet. 20:299-303(1998)
Cited for: VARIANTS DFNA9 GLY-66; GLU-88 AND ARG-117;
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.
Grabski R.; Szul T.; Sasaki T.; Timpl R.; Mayne R.; Hicks B.; Sztul E.;
Hum. Genet. 113:406-416(2003)
Cited for: CHARACTERIZATION OF VARIANTS DFNA9 SER-51; GLY-66; GLU-88; ASN-109 AND ARG-117;
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.