Variant position: 143 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 TQKVRIEGSLWWTYTSSIFF RVIFEAAFMYVFYVMYDGFSM
Gorilla TQKVRIEGSLWWTYTSSIFF RVIFEAAFMYVFYVMYDGFSM
Rhesus macaque TQKVRIEGSLWWTYTSSIFF RVVFEAAFMYVFYVMYDGFSM
Mouse TQKVRIEGSLWWTYTTSIFF RVIFEAVFMYVFYIMYNGFFM
Rat TQKVRIEGSLWWTYTTSIFF RVIFEAVFMYVFYIMYNGFFM
Bovine KQKVRIEGSLWWTYTGSIFF RVIFEAAFMYVFYVMYDGFAM
Sheep NQKVRIEGSLWWTYTGSIFF RVIFEAAFMYVFYVMYDGFAM
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.
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Hamelmann C.; Amedofu G.K.; Albrecht K.; Muntau B.; Gelhaus A.; Brobby G.W.; Horstmann R.D.;
Hum. Mutat. 18:84-85(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS DFNB1A PRO-79; TRP-143; ALA-178; LYS-203 AND PRO-214; VARIANTS DFNA3A GLN-184 AND SER-197;
GJB2 mutations: passage through Iran.
Najmabadi H.; Nishimura C.; Kahrizi K.; Riazalhosseini Y.; Malekpour M.; Daneshi A.; Farhadi M.; Mohseni M.; Mahdieh N.; Ebrahimi A.; Bazazzadegan N.; Naghavi A.; Avenarius M.; Arzhangi S.; Smith R.J.H.;
Am. J. Med. Genet. A 133:132-137(2005)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS DFNB1A HIS-32; LYS-80; ILE-93; GLU-120 DEL; LYS-129; TRP-143 AND PRO-184; VARIANTS ILE-27; GLY-114; HIS-127 AND ILE-153;
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.
Brobby G.W.; Muller-Myhsok B.; Horstmann R.D.;
N. Engl. J. Med. 338:548-550(1998)
Cited for: VARIANT DFNB1A TRP-143;
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;
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