UniProtKB/Swiss-Prot P48735 : Variant p.Arg172Ser
Isocitrate dehydrogenase [NADP], mitochondrial
Gene: IDH2
Variant information
Variant position: 172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Arginine (R) to Serine (S) at position 172 (R172S, p.Arg172Ser).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 large size and basic (R) to small size and polar (S)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -1The 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: Found in patients with cartilagenous tumors.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 452 The length of the canonical sequence.
Location on the sequence:
IICKNIPRLVPGWTKPITIG
R HAHGDQYKATDFVADRAGTF
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 IICKNIPRLVPGWTKPITIGR HAHGDQYKATDFVADRAGTF
Mouse IICKNIPRLVPGWTKPITIGR HAHGDQYKATDFVVDRAGTF
Rat IICKNIPRLVPGWTKPITIGR HAHGDQYKATDFVVDRAGMF
Bovine IICKNIPRLVPGWTKPITIGR HAHGDQYKATDFVVDRAGTF
Slime mold IICKNLPLLVPGWKKPIIIGR HAHGDQYKATDFVVNGPGKL
Baker's yeast IVIPRIPRLVPRWEKPIIIGR HAHGDQYKATDTLIPGPGSL
Fission yeast ILIKNIPKYIPGWTNPICIGR HAFGDQYKSTDLVASGPGKL
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
40 – 452
Isocitrate dehydrogenase [NADP], mitochondrial
Binding site
172 – 172
Substrate
Site
179 – 179
Critical for catalysis
Modified residue
155 – 155
N6-acetyllysine
Modified residue
166 – 166
N6-acetyllysine; alternate
Modified residue
166 – 166
N6-succinyllysine; alternate
Modified residue
180 – 180
N6-acetyllysine; alternate
Modified residue
180 – 180
N6-succinyllysine; alternate
Beta strand
169 – 173
Literature citations
Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes.
Jin Y.; Elalaf H.; Watanabe M.; Tamaki S.; Hineno S.; Matsunaga K.; Woltjen K.; Kobayashi Y.; Nagata S.; Ikeya M.; Kato T. Jr.; Okamoto T.; Matsuda S.; Toguchida J.;
PLoS ONE 10:E0131998-E0131998(2015)
Cited for: VARIANTS SER-172; THR-172 AND TRP-172; INVOLVEMENT IN DISEASE;
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.