UniProtKB/SwissProt variant VAR

Variant information

Variant position:

110

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 Glycine (G) to Alanine (A) at position 110 (G110A, p.Gly110Ala).

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 small size and hydrophobic (A)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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:

110

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:

RQKLDPKIAVAAQNCYKVTN G AFTGEISPGMIKDCGATWVV

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                         RQKL-DPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWVV

Gorilla                       RQKL-DPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

                              RQKL-DAKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

Rhesus macaque                RQKL-DPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

Chimpanzee                    RQKL-DPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

Mouse                         RQKL-DPKIAVAAQNCYKVTNGAFTGEISPGMIKDLGATWV

Rat                           RQKL-DPKIAVAAQNCYKVTNGAFTGEISPGMIKDLGATWV

Pig                           RQKL-DPKIAVAAQNCYKVANGAFTGEIGPGMIKDLGATWV

Bovine                        RQKL-DPKIAVAAQNCYKVANGAFTGEISPGMIKDLGATWV

Rabbit                        RQKL-DPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

Chicken                       RQKL-DAKIGVAAQNCYKVPKGAFTGEISPAMIKDIGAAWV

Xenopus laevis                RQKL-DAKIALSAQNCYKVAKGAFTGEISPAMIKDCGATWV

Xenopus tropicalis            RQKL-DAKFAVSAQNCYKVAKGAFTGEISPAMIKDCGATWV

Caenorhabditis elegans        KSKL-KAGVLVAAQNCYKVPKGAFTGEISPAMIKDLGLEWV

Drosophila                    RNLL-PCELGLAGQNAYKVAKGAFTGEISPAMLKDIGADWV

Slime mold                    SNKLDNKKFKVCSQNCYSVAKGAFTGEISANMLVDLGIPYV

Baker's yeast                 VSLVKKPQVTVGAQNAYLKASGAFTGENSVDQIKDVGAKWV

Fission yeast                 RQQV-KKDIGVGAQNVFDKKNGAYTGENSAQSLIDAGITYT

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	1 – 286	Triosephosphate isomerase
Modified residue	105 – 105	Nitrated tyrosine
Modified residue	117 – 117	Phosphoserine
Alternative sequence	1 – 119	Missing. In isoform 4.
Beta strand	106 – 111

Literature citations

Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.
Watanabe M.; Zingg B.C.; Mohrenweiser H.W.;
Am. J. Hum. Genet. 58:308-316(1996)
Cited for: VARIANTS TPID ALA-110; ASP-142 AND MET-192;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P60174: Variant p.Gly110Ala