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UniProtKB/Swiss-Prot P60174 : Variant p.Gly123Arg
Triosephosphate isomerase
Gene: TPI1
Variant information
Variant position: 123 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 Glycine (G) to Arginine (R) at position 123 (G123R, p.Gly123Arg).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 glycine (G) to large size and basic (R)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2The 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: In Manchester; thermolabile.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 123 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 249 The length of the canonical sequence.
Location on the sequence:
FGESDELIGQKVAHALAEGL
G VIACIGEKLDEREAGITEKV
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 FGESDELIGQKVAHALAEGLG VIACIGEKLDEREAGITEKV
Gorilla FGESDELIGQKVAHALAEGLG VIACIGEKLDEREAGITEKV
FGESDELIGQKVAHALAEGLG VIACIGEKLDEREAGITEKV
Rhesus macaque FGESDELIGQKVAHALAEGLG VIACIGEKLDEREAGITEKV
Chimpanzee FGESDELIGQKVAHALAEGLG VIACIGEKLDEREAGITEKV
Mouse FGESDELIGQKVSHALAEGLG VIACIGEKLDEREAGITEKV
Rat FGESDELIGQKVNHALSEGLG VIACIGEKLDEREAGITEKV
Pig FGESDELIGQKVAHALAEGLG VIACIGEKLDEREAGITEKV
Bovine FGESDELIGQKVAHALAEGLG VIACIGEKLDEREAGITEKV
Rabbit FGESDELIGQKVAHALSEGLG VIACIGEKLDEREAGITEKV
Chicken FGESDELIGQKVAHALAEGLG VIACIGEKLDEREAGITEKV
Xenopus laevis FGECDELIGQKVAHALSEGIG VIACIGEKLDQREAGITEKV
Xenopus tropicalis FGESDELIGQKVAHALSENVG VIGCIGEKLDQREAGITEKV
Caenorhabditis elegans FGESDALIAEKTVHALEAGIK VVFCIGEKLEEREAGHTKDV
Drosophila FGESDALIAEKAEHALAEGLK VIACIGETLEEREAGKTNEV
Slime mold FSESSELITKKTKYAISLGLT VILCLGELLADRKSNNTEHI
Baker's yeast FHEDDKFIADKTKFALGQGVG VILCIGETLEEKKAGKTLDV
Fission yeast FKESDEFVADKTKFALEQGLT VVACIGETLAEREANETINV
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
2 – 249
Triosephosphate isomerase
Modified residue
106 – 106
Phosphoserine
Cross
142 – 142
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Beta strand
123 – 128
Literature citations
Human triosephosphate isomerase: substitution of Arg for Gly at position 122 in a thermolabile electromorph variant, TPI-Manchester.
Perry B.A.; Mohrenweiser H.W.;
Hum. Genet. 88:634-638(1992)
Cited for: VARIANT MANCHESTER ARG-123;
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.