UniProtKB/Swiss-Prot P08034: Variant p.Arg22Gln

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

22 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 Glutamine (Q) at position 22 (R22Q, p.Arg22Gln). 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 medium size and polar (Q) 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. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1060501002 [ dbSNP | Ensembl ]

Sequence information Variant position:

22 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:

NWTGLYTLLSGVNRHSTAIG R VWLSVIFIFRIMVLVVAAES 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                         NWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAES

Mouse                         NWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAES

Rat                           NWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAES

Bovine                        NWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAES

Horse                         NWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAES

Xenopus laevis                NWAGLYAILSGVNRHSTSIGRIWLSVVFIFRIMVLVAAAES

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	1 – 22	Cytoplasmic
Helix	19 – 40

Literature citations
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
Ionasescu V.; Ionasescu R.; Searby C.;
Am. J. Med. Genet. 63:486-491(1996)
Cited for: VARIANTS CMTX1 SER-3; GLN-22; SER-77; ARG-80; GLY-102; TRP-142 AND TRP-164; Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Silander K.; Meretoja P.; Pihko H.; Juvonen V.; Issakainen J.; Aula P.; Savontaus M.L.;
Hum. Genet. 100:391-397(1997)
Cited for: VARIANTS CMTX1 GLN-22; GLN-75; TRP-75; TRP-107; MET-139 AND VAL-194; 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; X-linked Charcot-Marie-Tooth disease and connexin32.
Ionasescu V.V.;
Cell Biol. Int. 22:807-813(1998)
Cited for: VARIANTS CMTX1 SER-3; GLN-22; ALA-70; SER-77; ARG-80; MET-95; GLY-102; TRP-142; TRP-164 AND SER-180; 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; Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
Nicholson G.A.; Yeung L.; Corbett A.;
Neurology 51:1412-1416(1998)
Cited for: VARIANTS CMTX1 TRP-9; GLN-22; THR-28; THR-30; THR-34; MET-35; TRP-107; MET-127; PRO-131; ALA-158; THR-182; PHE-192 AND ILE-239; HMSN and HNPP. Laboratory service provision in the south west of England -- two years' experience.
Williams M.M.; Tyfield L.A.; Jardine P.; Lunt P.W.; Stevens D.L.; Turnpenny P.D.;
Ann. N. Y. Acad. Sci. 883:500-503(1999)
Cited for: VARIANTS CMTX1 GLN-22; VAL-39; MET-43; PHE-60; THR-104; MET-139; GLN-142; TRP-142; VAL-149 AND GLU-177; Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.
Mostacciuolo M.L.; Righetti E.; Zortea M.; Bosello V.; Schiavon F.; Vallo L.; Merlini L.; Siciliano G.; Fabrizi G.M.; Rizzuto N.; Milani M.; Baratta S.; Taroni F.;
Hum. Mutat. 18:32-41(2001)
Cited for: VARIANTS CMTX1 CYS-7; PRO-8; GLN-22; PRO-25; ASN-30; CYS-59; MET-139; LEU-143 DEL; SER-151; TRP-164 AND LEU-184; 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.