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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Val136Ala

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 136 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Valine (V) to Alanine (A) at position 136 (V136A, p.Val136Ala). 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: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In CMTX1 and DSS; found in a DSS patient with severe symptoms also carrying W-359 in the EGR2 gene; may act as a modifier of disease severity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 136 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 283 The length of the canonical sequence.
Location on the sequence: help HLEEVKRHKVHISGTLWWTY V ISVVFRLLFEAVFMYVFYLL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         HLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLL

Mouse                         HLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLL

Rat                           HLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLL

Bovine                        HLEEVKRHKVHISGTLWWTYVISVVFRLLFEAAFMYVFYLL

Horse                         HLEEVKRHKVHISGTLWWTYVISVVFRLLFEAAFMYVFYLL

Xenopus laevis                ELAEVKKHKVKISGTLWWTYISSVFFRIIFEAAFMYIFYLI
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Transmembrane 131 – 153 Helical



Literature citations
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi B.-O.; Lee M.S.; Shin S.H.; Hwang J.H.; Choi K.-G.; Kim W.-K.; Sunwoo I.N.; Kim N.K.; Chung K.W.;
Hum. Mutat. 24:185-186(2004)
Cited for: VARIANTS CMTX1 ALA-136; GLN-164 AND ARG-168; Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Chung K.W.; Sunwoo I.N.; Kim S.M.; Park K.D.; Kim W.-K.; Kim T.S.; Koo H.; Cho M.; Lee J.; Choi B.O.;
Neurogenetics 6:159-163(2005)
Cited for: VARIANT DSS ALA-136;
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.