UniProtKB/SwissProt variant VAR

Variant information

Variant position:

171

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

Type of variant:

LP/P [Disclaimer]

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 Isoleucine (I) to Valine (V) at position 171 (I171V, p.Ile171Val).

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:

3

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 TPID.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121964849 [ dbSNP | Ensembl ]

Sequence information

Variant position:

171

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:

IADNVKDWSKVVLAYEPVWA I GTGKTATPQQAQEVHEKLRG

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                         IAD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLRG

Gorilla                       ITD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

                              IAD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Rhesus macaque                IAD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Chimpanzee                    IAD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Mouse                         IAD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Rat                           IAD-NVKDWCKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Pig                           IAD-NVKDWNKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Bovine                        IAD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Rabbit                        IAD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Chicken                       IAD-NVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLR

Xenopus laevis                IAD-NVKDWSKVVLAYEPVWAIGTGKTATPEQAQEVHKKLR

Xenopus tropicalis            IAD-NVKDWSKVVLAYEPVWAIGTGKTATPEQAQEVHKKLR

Caenorhabditis elegans        IVD-KGVSWENIVIAYEPVWAIGTGKTASGEQAQEVHEWIR

Drosophila                    YAQ-KIKDWKNVVVAYEPVWAIGTGQTATPDQAQEVHAFLR

Slime mold                    FASFTPEEWSKIVIAYEPVWAIGTGAVATPQEAQDTHVFIR

Baker's yeast                 VLE-EVKDWTNVVVAYEPVWAIGTGLAATPEDAQDIHASIR

Fission yeast                 IAD-KVQNWSKIVIAYEPVWAIGTGKTATPEQAQEVHAEIR

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
Active site	166 – 166	Proton acceptor
Modified residue	156 – 156	N6-acetyllysine; alternate
Modified residue	156 – 156	N6-succinyllysine; alternate
Modified residue	159 – 159	Phosphoserine
Modified residue	173 – 173	Phosphothreonine
Turn	171 – 173

Literature citations

Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
Arya R.; Lalloz M.R.A.; Bellingham A.J.; Layton D.M.;
Hum. Mutat. 10:290-294(1997)
Cited for: VARIANTS TPID TYR-42; ASP-105 AND VAL-171;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P60174: Variant p.Ile171Val