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:
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 LDPVPQDASTKKLSECLKRI GDELDSNMELQRMIAAVDTDS
Mouse LEQPPQDASTKKLSECLRRI GDELDSNMELQRMIADVDTDS
Rat LEQPPQDASTKKLSECLRRI GDELDSNMELQRMIADVDTDS
Bovine LEQVPQDASTKKLSECLKRI GDELDSNMELQRMIAAVDTDS
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
1 – 192 Apoptosis regulator BAX
59 – 73 BH3
1 – 78 Missing. In isoform Zeta.
30 – 78 Missing. In isoform Delta.
42 – 192 Missing. In isoform Gamma.
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.
54 – 71
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.;
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.;
Cited for: VARIANTS GLU-11; ARG-67 AND VAL-108;
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