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UniProtKB/Swiss-Prot Q07812: Variant p.Gly67Arg

Apoptosis regulator BAX
Gene: BAX
Variant information

Variant position:  67
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Arginine (R) at position 67 (G67R, p.Gly67Arg).
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 glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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 a T-cell acute lymphoblastic leukemia cell line; loss of heterodimerization with Bcl-2 or Bcl-X(L).
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  67
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  192
The length of the canonical sequence.

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.





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.

Chain 1 – 192 Apoptosis regulator BAX
Motif 59 – 73 BH3
Alternative sequence 1 – 78 Missing. In isoform Zeta.
Alternative sequence 30 – 78 Missing. In isoform Delta.
Alternative sequence 42 – 192 Missing. In isoform Gamma.
Mutagenesis 74 – 74 M -> DE. Strongly reduced interaction with MCL1, BCL2, BCL2L1 and BCL2L2. No effect on cytochrome c release and subsequent apoptosis triggered by etoposide.
Helix 54 – 71

Literature citations

Bax mutations in cell lines derived from hematological malignancies.
Meijerink J.P.P.; Smetsers T.F.C.M.; Sloetjes A.W.; Linders E.H.P.; Mensink E.J.B.M.;
Leukemia 9:1828-1832(1995)

Hematopoietic malignancies demonstrate loss-of-function mutations of BAX.
Meijerink J.P.P.; Mensink E.J.B.M.; Wang K.; Sedlak T.W.; Sloetjes A.W.; de Witte T.; Waksman G.; Korsmeyer S.J.;
Blood 91:2991-2997(1998)
Cited for: VARIANTS GLU-11; ARG-67 AND VAL-108;

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.