Home  |  Contact

UniProtKB/Swiss-Prot P48735: Variant p.Pro162Ser

Isocitrate dehydrogenase [NADP], mitochondrial
Gene: IDH2
Variant information

Variant position:  162
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Proline (P) to Serine (S) at position 162 (P162S, p.Pro162Ser).
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 medium size and hydrophobic (P) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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

Involvement in disease:  Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:19228619, ECO:0000269|PubMed:25495392}. Note=The gene represented in this entry is involved in disease pathogenesis.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In GLM; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  162
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:   ILGGTVFREPIICKNIPRLV  P GWTKPITIGRHAHGDQYKAT
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                         ILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYKAT

Mouse                         ILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYKAT

Rat                           ILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYKAT

Bovine                        ILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYKAT

Slime mold                    ILDGTVFRGPIICKNLPLLVPGWKKPIIIGRHAHGDQYKAT

Baker's yeast                 ILGGTVFREPIVIPRIPRLVPRWEKPIIIGRHAHGDQYKAT

Fission yeast                 ILNGTVFREPILIKNIPKYIPGWTNPICIGRHAFGDQYKST

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.

TypePositionsDescription
Chain 40 – 452 Isocitrate dehydrogenase [NADP], mitochondrial
Binding site 149 – 149 Substrate
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


Literature citations

IDH2 mutation in gliomas including novel mutation.
Koh J.; Cho H.; Kim H.; Kim S.I.; Yun S.; Park C.K.; Lee S.H.; Choi S.H.; Park S.H.;
Neuropathology 35:236-244(2015)
Cited for: VARIANTS GLM LEU-158; SER-162 AND LYS-172;

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.