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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Glu102Gly

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glutamate (E) to Glycine (G) at position 102 (E102G, p.Glu102Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CMTX1; mild phenotype; increased sensitivity to acidification-induced closure. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 283 The length of the canonical sequence.
Location on the sequence: help ILVSTPALLVAMHVAHQQHI E KKMLRLEGHGDPLHLEEVKR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKR

Mouse                         ILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKR

Rat                           ILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKR

Bovine                        ILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKR

Horse                         ILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPIHLEEVKR

Xenopus laevis                IIVSTPALLVAMHVAHLQHQEKKELRLSRHVKDQELAEVKK
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Topological domain 96 – 130 Cytoplasmic



Literature citations
Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
Ionasescu V.; Searby C.; Ionasescu R.;
Hum. Mol. Genet. 3:355-358(1994)
Cited for: VARIANTS CMTX1 GLY-102 AND TRP-142; Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
Ionasescu V.; Ionasescu R.; Searby C.;
Am. J. Med. Genet. 63:486-491(1996)
Cited for: VARIANTS CMTX1 SER-3; GLN-22; SER-77; ARG-80; GLY-102; TRP-142 AND TRP-164; Connexin32 and X-linked Charcot-Marie-Tooth disease.
Bone L.J.; Deschenes S.M.; Balice-Gordon R.J.; Fischbeck K.H.; Scherer S.S.;
Neurobiol. Dis. 4:221-230(1997)
Cited for: VARIANTS CMTX1 ARG-3; SER-3; CYS-7; SER-12; LEU-13; MET-13; LYS-14; GLN-15; TRP-15; PRO-16; SER-20; ASP-21; GLN-22; PRO-22; GLY-22; ALA-23; PHE-25; LEU-26; ASN-28; THR-28; LEU-29; ASN-30; THR-34; VAL-34; MET-35; MET-38; VAL-40; LYS-41; LEU-44; TYR-49; SER-53; PHE-56; PHE-60; ILE-63; SER-64; CYS-65; GLN-75; PRO-75; TRP-75; SER-77; ARG-80; CYS-85; PHE-85; ALA-86; ASN-86; SER-86; ALA-87; LEU-87; SER-87; PRO-89; HIS-90; VAL-93; GLN-94; TYR-94; MET-95; TYR-100; GLY-102; GLU-103; TRP-107; 111-HIS--HIS-116 DEL; ASN-124; PRO-128; ARG-133; MET-139; TRP-142; GLU-142; LEU-143 DEL; ARG-156; PHE-156; CYS-157; ALA-158; ARG-158; HIS-160; PRO-161; TRP-164; GLN-164; SER-172; LEU-172; TYR-178; ARG-179; LEU-180; MET-181; THR-182; CYS-183; SER-183; HIS-183; THR-185 DEL; LYS-186; GLU-187; GLY-189; ILE-189; 191-THR--PHE-193 DEL; CYS-193; PHE-198; ARG-199; ARG-201; VAL-204; SER-205; LYS-208; TRP-215; CYS-219; HIS-219; GLY-220; CYS-230; LEU-230; CYS-235 AND HIS-238; X-linked Charcot-Marie-Tooth disease and connexin32.
Ionasescu V.V.;
Cell Biol. Int. 22:807-813(1998)
Cited for: VARIANTS CMTX1 SER-3; GLN-22; ALA-70; SER-77; ARG-80; MET-95; GLY-102; TRP-142; TRP-164 AND SER-180; Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel C.F.; Takashima H.; Garcia C.A.; Olney R.K.; Johnson J.; Berry K.; Russo P.; Kennedy S.; Teebi A.S.; Scavina M.; Williams L.L.; Mancias P.; Butler I.J.; Krajewski K.; Shy M.; Lupski J.R.;
Ann. Neurol. 51:190-201(2002)
Cited for: VARIANTS CMTX1 TRP-15; GLN-22; GLY-102; PRO-108; ILE-205 AND TRP-215; Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
Abrams C.K.; Freidin M.; Bukauskas F.; Dobrenis K.; Bargiello T.A.; Verselis V.K.; Bennett M.V.L.; Chen L.; Sahenk Z.;
J. Neurosci. 23:10548-10558(2003)
Cited for: VARIANTS CMTX1 GLY-102 AND ALA-181; CHARACTERIZATION OF VARIANTS CMTX1 GLY-102 AND ALA-181;
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.