UniProtKB/Swiss-Prot P08034: Variant p.Arg215Trp

Gap junction beta-1 protein
Gene: GJB1
Feedback?

Variant information Variant position:

215 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 Arginine (R) to Tryptophan (W) at position 215 (R215W, p.Arg215Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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; mild/moderate; non-functional channel. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs879254099 [ dbSNP | Ensembl ]

Sequence information Variant position:

215 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:

LAASGICIILNVAEVVYLII R ACARRAQRRSNPPSRKGSGF 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                         LAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGS-GF

Mouse                         LAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGS-G

Rat                           LAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGS-G

Bovine                        LAASGICIILNVAEVVYLIFRACARRAQRRSNPPSRKGSGG

Horse                         LAASGICIILNVAEVVYLIVRACARRAQRRSNPPSRKGS-G

Xenopus laevis                LVASGVCIVLNVAEVFFLIAQACTRRARRHRDS----GS--

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	215 – 283	Cytoplasmic
Modified residue	233 – 233	Phosphoserine

Literature citations
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
Fairweather N.; Bell C.; Cochrane S.; Chelly J.; Wang S.; Mostacciuolo M.L.; Monaco A.P.; Haites N.E.;
Hum. Mol. Genet. 3:29-34(1994)
Cited for: VARIANTS CMTX1 GLN-15; PHE-60; ILE-63; LEU-143 DEL; LYS-208 AND TRP-215; X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
Ressot C.; Latour P.; Blanquet-Grossard F.; Sturtz F.; Duthel S.; Battin J.; Corbillon E.; Ollagnon E.; Serville F.; Vandenberghe A.; Dautigny A.; Pham-Dinh D.;
Hum. Genet. 98:172-175(1996)
Cited for: VARIANTS CMTX1 GLY-22; PRO-22 AND TRP-215; Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Bort S.; Nelis E.; Timmerman V.; Sevilla T.; Cruz-Martinez A.; Martinez F.; Millan J.M.; Arpa J.; Vilchez J.J.; Prieto F.; van Broeckhoven C.; Palau F.;
Hum. Genet. 99:746-754(1997)
Cited for: VARIANTS CMTX1 ALA-23; SER-64; SER-87; TRP-164; GLN-164; SER-183; HIS-183; CYS-183 AND TRP-215; 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; Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
Castro C.; Gomez-Hernandez J.M.; Silander K.; Barrio L.C.;
J. Neurosci. 19:3752-3760(1999)
Cited for: CHARACTERIZATION OF VARIANTS CMTX1 LYS-208; GLN-215; TRP-215; HIS-238 AND GLY-280; 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; Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
Young P.; Grote K.; Kuhlenbaeumer G.; Debus O.; Kurlemann H.; Halfter H.; Funke H.; Ringelstein E.B.; Stoegbauer F.;
J. Neurol. 248:410-415(2001)
Cited for: VARIANTS CMTX1 TRP-26; PHE-64; TRP-142; TRP-164 AND TRP-215; 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;

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.