UniProtKB/Swiss-Prot Q07812: Variant p.Gly67Arg

Apoptosis regulator BAX
Gene: BAX
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Variant information Variant position:

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

US 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 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.

Variant rs398122513 [ dbSNP | Ensembl ]

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.
Location on the sequence:

LDPVPQDASTKKLSECLKRI G DELDSNMELQRMIAAVDTDS 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                         LDPVPQDASTKKLSECLKRIGDELDSNMELQRMIAAVDTDS

Mouse                         LEQPPQDASTKKLSECLRRIGDELDSNMELQRMIADVDTDS

Rat                           LEQPPQDASTKKLSECLRRIGDELDSNMELQRMIADVDTDS

Bovine                        LEQVPQDASTKKLSECLKRIGDELDSNMELQRMIAAVDTDS

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 – 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)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 63-77 AND 98-118; VARIANTS ARG-67 AND VAL-108; 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.