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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Pro172Arg

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 172 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 Proline (P) to Arginine (R) at position 172 (P172R, p.Pro172Arg). 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 hydrophobic (P) to large size and basic (R) 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; suggests a failure to incorporate the mutant protein in the cell membrane. Any additional useful information about the variant.


Sequence information Variant position: help 172 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 VFYLLYPGYAMVRLVKCDVY P CPNTVDCFVSRPTEKTVFTV 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                         VFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTV

Mouse                         VFYLLYPGYAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTV

Rat                           VFYLLYPGYAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTV

Bovine                        VFYLLYPGYAMVRLVKCDAYPCPNTVDCFVSRPTEKTIFTV

Horse                         VFYLLYPGYAMVRLVKCDAYPCPNTVDCFVSRPTEKTVFTV

Xenopus laevis                IFYLIYPGYSMIRLLKCDAYPCPNTVDCFVSRPTEKTIFTV

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 154 – 191 Extracellular



Literature citations
Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.
Yoshimura T.; Satake M.; Ohnishi A.; Tsutsumi Y.; Fujikura Y.;
J. Neurosci. Res. 51:154-161(1998)
Cited for: VARIANTS CMTX1 SER-53 AND ARG-172; CHARACTERIZATION OF VARIANTS CMTX1 SER-53 AND ARG-172; Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N.; Yamamoto M.; Yoshihara T.; Koike H.; Nakagawa M.; Yoshikawa H.; Ohnishi A.; Hayasaka K.; Onodera O.; Baba M.; Yasuda H.; Saito T.; Nakashima K.; Kira J.; Kaji R.; Oka N.; Sobue G.;
Brain 126:134-151(2003)
Cited for: VARIANTS CMTX1 LEU-26; ALA-55; HIS-57; ILE-63; LEU-69; MET-139; GLN-142; TRP-142; ARG-172; ALA-177; HIS-183; ALA-191 AND TYR-201;
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.