Variant position: 86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 226 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 DHYFPISHIRLWALQLIFVS TPALLVAMHVAYRRHEKKRKF
Gorilla DHYFPISHIRLWALQLIFVS TPALLVAMHVAYRRHEKKRKF
Rhesus macaque DHYFPISHIRLWALQLIFVS TPALLVAMHVAYRRHEKKRKF
Mouse DHHFPISHIRLWALQLIMVS TPALLVAMHVAYRRHEKKRKF
Rat DHYFPISHIRLWALQLIMVS TPALLVAMHVAYRRHEKKRKF
Bovine DHYFPISHIRLWALQLIFVS TPALLVAMHVAYYRHEKKRKF
Sheep DHYFPISHIRLWALQLIFVS TPALLVAMHVAYYRHEKKRKF
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.
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A.; Yuge I.; Kimura S.; Namba A.; Abe S.; Van Laer L.; Van Camp G.; Usami S.;
Hum. Genet. 112:329-333(2003)
Cited for: VARIANTS DEAFNESS GLU-45; THR-71; ARG-86 AND TRP-143; VARIANTS ILE-27; ILE-37; GLY-114; ASN-123; LEU-191 AND THR-203;
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
Choi S.-Y.; Park H.-J.; Lee K.Y.; Dinh E.H.; Chang Q.; Ahmad S.; Lee S.H.; Bok J.; Lin X.; Kim U.-K.;
Hum. Mutat. 30:E716-E727(2009)
Cited for: VARIANT DFNA3A GLU-46; VARIANT DFNB1A ARG-86; CHARACTERIZATION OF VARIANT DFNA3A GLU-46; CHARACTERIZATION OF VARIANT DFNB1A ARG-86; FUNCTION; SUBCELLULAR LOCATION;
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.