UniProtKB/Swiss-Prot P08034: Variant p.Asn205Ser

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

205 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 Asparagine (N) to Serine (S) at position 205 (N205S, p.Asn205Ser). 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 polar (N) to small size and polar (S) 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; mild. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs104894822 [ dbSNP | Ensembl ]

Sequence information Variant position:

205 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:

TEKTVFTVFMLAASGICIIL N VAEVVYLIIRACARRAQRRS 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                         TEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRS

Mouse                         TEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRS

Rat                           TEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRS

Bovine                        TEKTIFTVFMLAASGICIILNVAEVVYLIFRACARRAQRRS

Horse                         TEKTVFTVFMLAASGICIILNVAEVVYLIVRACARRAQRRS

Xenopus laevis                TEKTIFTVFMLVASGVCIVLNVAEVFFLIAQACTRRARRHR

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
Transmembrane	192 – 214	Helical
Helix	184 – 216

Literature citations
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Rouger H.; Leguern E.; Birouk N.; Gouider R.; Tardieu S.; Plassart E.; Gugenheim M.; Vallat J.-M.; Louboutin J.-P.; Bouche P.; Agid Y.; Brice A.;
Hum. Mutat. 10:443-452(1997)
Cited for: VARIANTS THR-34; ILE-84; MET-95; TRP-107; ARG-133; LEU-141; ALA-158; ASN-203; SER-205 AND 213-ILE-ILE-214 DELINS LEU; 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; Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
Sorour E.; Upadhyaya M.;
Hum. Mutat. Suppl. 1:S242-S247(1998)
Cited for: VARIANTS CMTX1 TRP-15; PHE-60; ALA-86; TYR-100; CYS-133 AND SER-205; Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
Baehr M.; Andres F.; Timmerman V.; Nelis M.E.; Van Broeckhoven C.; Dichgans J.;
J. Neurol. Neurosurg. Psych. 66:202-206(1999)
Cited for: VARIANT CMTX1 SER-205; 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; Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K.; Benes V.; Thiel C.; Kraus C.; Kress W.; Hoeltzenbein M.; Ploner C.J.; Kotzian J.; Reis A.; Rott H.D.; Rautenstrauss B.W.;
Hum. Mutat. 21:100-100(2003)
Cited for: VARIANTS CMTX1 7-TYR-THR-8 DELINS SER; ASN-138; GLN-164; ALA-172 AND SER-205;

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.