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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Pro172Leu

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 172
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 172 (P172L, p.Pro172Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In CMTX1.
Other resources: help


Sequence information Variant position: help 172
Protein sequence length: help 283
Location on the sequence: help VFYLLYPGYAMVRLVKCDVY P CPNTVDCFVSRPTEKTVFTV
Residue conservation: help 
Human                         VFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTV

Mouse                         VFYLLYPGYAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTV

Rat                           VFYLLYPGYAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTV

Bovine                        VFYLLYPGYAMVRLVKCDAYPCPNTVDCFVSRPTEKTIFTV

Horse                         VFYLLYPGYAMVRLVKCDAYPCPNTVDCFVSRPTEKTVFTV

Xenopus laevis                IFYLIYPGYSMIRLLKCDAYPCPNTVDCFVSRPTEKTIFTV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Topological domain 154 – 191 Extracellular



Literature citations
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; Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
Ikegami T.; Lin C.; Kato M.; Itoh A.; Nonaka I.; Kurimura M.; Hirayabashi H.; Shinohara Y.; Mochizuki A.; Hayasaka K.;
Am. J. Med. Genet. 80:352-355(1998)
Cited for: VARIANTS CMTX1 MET-37; HIS-57; LEU-172 AND ALA-177; Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K.; Meretoja P.; Juvonen V.; Ignatius J.; Pihko H.; Saarinen A.; Wallden T.; Herrgaard E.; Aula P.; Savontaus M.-L.;
Hum. Mutat. 12:59-68(1998)
Cited for: VARIANTS CMTX1 GLN-22; ARG-58; ILE-63; LEU-172; ASP-175 AND PHE-204;
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.