Sequence information
Variant position: 200 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 270 The length of the canonical sequence.
Location on the sequence:
RPTEKKIFTYFMVGASAVCI
V LTICELCYLICHRVLRGLHK
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 RPTEKKIFTYFMVGASAVCIV LTICELCYLICHRVLRGLHK
Mouse RPTEKKVFTYFMVGASAVCII LTICEICYLIFHRIMRGISK
Rat RPTEKKVFTYFMVGASAVCII LTICEICYLIFHRIMRGLSK
Bovine RPTEKKLFTYFMVGASAVCIV LTFCEICYLIFHRVVRSLHR
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
Chain
1 – 270
Gap junction beta-3 protein
Transmembrane
188 – 210
Helical
Literature citations
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
Lopez-Bigas N.; Rabionet R.; Martinez E.; Banchs I.; Volpini V.; Vance J.M.; Arbones M.L.; Estivill X.;
Hum. Mutat. 15:481-482(2000)
Cited for: VARIANTS TRP-32 AND ILE-200;
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
Alexandrino F.; de Oliveira C.A.; Magalhaes R.F.; Florence M.E.; de Souza E.M.; Sartorato E.L.;
Am. J. Med. Genet. A 149:681-684(2009)
Cited for: VARIANTS TRP-32 AND ILE-200;
Disclaimer:
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.