UniProtKB/Swiss-Prot P08034: Variant p.Glu186Lys

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position:

186 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Glutamate (E) to Lysine (K) at position 186 (E186K, p.Glu186Lys). 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:

Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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:

In CMTX1; non-functional channel. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs116840821 [ dbSNP | Ensembl ]

Sequence information Variant position:

186 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

283 The length of the canonical sequence.
Location on the sequence:

VKCDVYPCPNTVDCFVSRPT E KTVFTVFMLAASGICIILNV 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                         VKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNV

Mouse                         VKCEAFPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNV

Rat                           VKCEAFPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNV

Bovine                        VKCDAYPCPNTVDCFVSRPTEKTIFTVFMLAASGICIILNV

Horse                         VKCDAYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNV

Xenopus laevis                LKCDAYPCPNTVDCFVSRPTEKTIFTVFMLVASGVCIVLNV

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 – 283	Gap junction beta-1 protein
Topological domain	154 – 191	Extracellular

Literature citations
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Bergoffen J.; Schere S.S.; Wang S.; Oronzi Scott M.; Bone L.J.; Paul D.L.; Chen K.; Lensch M.W.; Chance P.F.; Fischbeck K.H.;
Science 262:2039-2042(1993)
Cited for: VARIANTS CMTX1 SER-12; MET-139; TRP-142; ARG-156; SER-172 AND LYS-186; 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; Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Mersiyanova I.V.; Ismailov S.M.; Polyakov A.V.; Dadali E.L.; Fedotov V.P.; Nelis E.; Loefgren A.; Timmerman V.; Van Broeckhoven C.; Evgrafov O.V.;
Hum. Mutat. 15:340-347(2000)
Cited for: VARIANTS CMTX1 20-ILE-GLY-21 DELINS ASN-SER; LYS-34; ARG-80; VAL-90; VAL-93; TRP-107; TRP-142; GLN-164; HIS-183; LYS-186; LEU-193 AND LYS-208; Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
Dubourg O.; Tardieu S.; Birouk N.; Gouider R.; Leger J.M.; Maisonobe T.; Brice A.; Bouche P.; LeGuern E.;
Brain 124:1958-1967(2001)
Cited for: VARIANTS CMTX1 GLY-22; THR-34; VAL-34; PHE-56; ILE-84; MET-91; ASP-94; GLN-94; MET-95; TRP-107; ILE-130; ARG-133; LEU-141; GLN-142; ALA-158; ASP-159; TRP-164; GLN-164; LYS-186; ARG-199; ASN-203; SER-205; 213-ILE-ILE-214 DELINS LEU AND TRP-215; CHARACTERIZATION OF VARIANTS CMTX1 GLY-22; THR-34; PHE-56; GLN-94; MET-95; 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.