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UniProtKB/Swiss-Prot P60174: Variant p.Val269Met

Triosephosphate isomerase
Gene: TPI1
Chromosomal location: 12p13
Variant information

Variant position:  269
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 Valine (V) to Methionine (M) at position 269 (V269M, p.Val269Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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:  Triosephosphate isomerase deficiency (TPID) [MIM:615512]: An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy. {ECO:0000269|PubMed:2876430, ECO:0000269|PubMed:8503454, ECO:0000269|PubMed:8571957, ECO:0000269|PubMed:9338582, ECO:0000269|Ref.37}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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 TPID.
Any additional useful information about the variant.



Sequence information

Variant position:  269
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  286
The length of the canonical sequence.

Location on the sequence:   SVTGATCKELASQPDVDGFL  V GGASLKPEFVDIINAKQ
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                         SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA---KQ-

Gorilla                       SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA-

                              SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA-

Rhesus macaque                SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA-

Chimpanzee                    SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA-

Mouse                         SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA-

Rat                           SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA-

Pig                           SVTGATCKELASQPDVDGFRVSGASL-KPEFVDIINA-

Bovine                        SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA-

Rabbit                        SVTGATCKELASQPDVDGFLVGGASL-KPEFVDIINA-

Chicken                       SVTGGNCKELASQHDVDGFLVGGASL-KPEFVDIINA-

Xenopus laevis                SVTGGTCRELAGQPDIDGFLVGGASL-KPEFIEIINA-

Xenopus tropicalis            SVTGGTCKELGAQPDIDGFLVGGASL-KPEFIDIINA-

Caenorhabditis elegans        SVTADNAAELGKKPDIDGFLVGGASL-KPDFVKIINA-

Drosophila                    SVTAANAKELAKKPDIDGFLVGGASL-KPEFVDIINA-

Slime mold                    SVNADNCHNLSKQSDIDGFLVGGASLVASDFIAIIKSA

Baker's yeast                 SANGSNAVTFKDKADVDGFLVGGASL-KPEFVDIINS-

Fission yeast                 SVNGGNCKEFLKFHDIDGFLVGGASL-KPEFHNIVNV-

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 1 – 286 Triosephosphate isomerase
Modified residue 249 – 249 Phosphoserine
Modified residue 251 – 251 Phosphothreonine
Modified residue 260 – 260 Phosphoserine
Modified residue 275 – 275 N6-acetyllysine
Beta strand 266 – 269


Literature citations

Relation between genetic defect, altered protein structure, and enzyme function in triose-phosphate isomerase (TPI) deficiency.
Neubauer B.A.; Pekrun A.; Eber S.W.; Lakomek M.; Schroeter W.;
Cited for: VARIANTS TPID ASP-142 AND MET-269;

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.