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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Leu156Phe

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 156
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Phenylalanine (F) at position 156 (L156F, p.Leu156Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and aromatic (F)
BLOSUM score: help 0
Variant description: help In CMTX1.


Sequence information Variant position: help 156
Protein sequence length: help 283
Location on the sequence: help VISVVFRLLFEAVFMYVFYL L YPGYAMVRLVKCDVYPCPNT
Residue conservation: help 
Human                         VISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNT

Mouse                         VISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCEAFPCPNT

Rat                           VISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCEAFPCPNT

Bovine                        VISVVFRLLFEAAFMYVFYLLYPGYAMVRLVKCDAYPCPNT

Horse                         VISVVFRLLFEAAFMYVFYLLYPGYAMVRLVKCDAYPCPNT

Xenopus laevis                ISSVFFRIIFEAAFMYIFYLIYPGYSMIRLLKCDAYPCPNT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Topological domain 154 – 191 Extracellular
Helix 130 – 156



Literature citations
New mutations in the X-linked form of Charcot-Marie-Tooth disease.
Latour P.; Fabreguette A.; Ressot C.; Blanquet-Grossard F.; Antoine J.-C.; Calvas P.; Chapon F.; Corbillon E.; Ollagnon E.; Sturtz F.; Boucherat M.; Chazot G.; Dautigny A.; Pham-Dinh D.; Vandenberghe A.;
Eur. Neurol. 37:38-42(1997)
Cited for: VARIANTS CMTX1 VAL-34; HIS-90; TRP-107; TRP-142; PHE-156 AND LYS-186; 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; Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
Latour P.; Levy N.; Paret M.; Chapon F.; Chazot G.; Clavelou P.; Couratier P.; Dumas R.; Ollagnon E.; Pouget J.; Setiey A.; Vallat J.-M.; Boucherat M.; Fontes M.; Vandenberghe A.;
Neurogenetics 1:117-123(1997)
Cited for: VARIANTS CMTX1 PRO-22; GLY-22; VAL-34; PRO-50; PHE-56; TRP-75; HIS-90; TRP-107; ARG-133; TRP-142; PHE-156; SER-159; ARG-184; LYS-186 AND TRP-215;
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.