UniProtKB/SwissProt variant VAR

Variant information

Variant position:

123

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

Type of variant:

LB/B

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:

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:

-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:

In Manchester; thermolabile.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121964846 [ dbSNP | Ensembl ]

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                         FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKV

Gorilla                       FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKV

                              FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKV

Rhesus macaque                FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKV

Chimpanzee                    FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKV

Mouse                         FGESDELIGQKVSHALAEGLGVIACIGEKLDEREAGITEKV

Rat                           FGESDELIGQKVNHALSEGLGVIACIGEKLDEREAGITEKV

Pig                           FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKV

Bovine                        FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKV

Rabbit                        FGESDELIGQKVAHALSEGLGVIACIGEKLDEREAGITEKV

Chicken                       FGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKV

Xenopus laevis                FGECDELIGQKVAHALSEGIGVIACIGEKLDQREAGITEKV

Xenopus tropicalis            FGESDELIGQKVAHALSENVGVIGCIGEKLDQREAGITEKV

Caenorhabditis elegans        FGESDALIAEKTVHALEAGIKVVFCIGEKLEEREAGHTKDV

Drosophila                    FGESDALIAEKAEHALAEGLKVIACIGETLEEREAGKTNEV

Slime mold                    FSESSELITKKTKYAISLGLTVILCLGELLADRKSNNTEHI

Baker's yeast                 FHEDDKFIADKTKFALGQGVGVILCIGETLEEKKAGKTLDV

Fission yeast                 FKESDEFVADKTKFALEQGLTVVACIGETLAEREANETINV

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P60174: Variant p.Gly123Arg