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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NR28: Variant p.Ser126Leu

Diablo IAP-binding mitochondrial protein
Gene: DIABLO
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Variant information Variant position: help 126 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 Serine (S) to Leucine (L) at position 126 (S126L, p.Ser126Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In DFNA64; does not increase apoptotic activity compared to wild-type; enhances the degradation of mutant and wild-type protein via heterodimerization; cells expressing the mutant protein show increased susceptibility to calcium-induced loss of mitochondrial potential compared to wild-type, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 239 The length of the canonical sequence.
Location on the sequence: help AVYTLTSLYRQYTSLLGKMN S EEEDEVWQVIIGARAEMTSK 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                         AVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSK

Mouse                         AVYTLVSLYRQYTSLLGKMNSQEEDEVWQVIIGARVEMTSK

Xenopus laevis                AVYTLISLQQKYSSLLDKINSNEESAIWQVIIGARVQINQL

Xenopus tropicalis            AVYTLISLQQKYTSLLDKMNSNEESAIWQVIIGARVQMKQL
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 22 – 239 Diablo IAP-binding mitochondrial protein
Chain 56 – 239 Diablo IAP-binding mitochondrial protein, cleaved form
Helix 126 – 173



Literature citations
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.
Cheng J.; Zhu Y.; He S.; Lu Y.; Chen J.; Han B.; Petrillo M.; Wrzeszczynski K.O.; Yang S.; Dai P.; Zhai S.; Han D.; Zhang M.Q.; Li W.; Liu X.; Li H.; Chen Z.Y.; Yuan H.;
Am. J. Hum. Genet. 89:56-66(2011)
Cited for: VARIANT DFNA64 LEU-126; CHARACTERIZATION OF DFNA64 LEU-126;
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.