UniProtKB/Swiss-Prot Q15274: Variant p.Thr195Ala

Nicotinate-nucleotide pyrophosphorylase [carboxylating]
Gene: QPRT
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Variant information Variant position:

195 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 Threonine (T) to Alanine (A) at position 195 (T195A, p.Thr195Ala). 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 medium size and polar (T) 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
Other resources:

Links to websites of interest for the variant.

Variant rs9932770 [ dbSNP | Ensembl ]

Sequence information Variant position:

195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

297 The length of the canonical sequence.
Location on the sequence:

VVAAGGVEKAVRAARQAADF T LKVEVECSSLQEAVQAAEAG 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                         VVAAGGVEKAVRAARQAADFTLKVEVECSSLQEAVQAAEAG

Mouse                         VVAAGSMERAVLKARQAAGFSLKVEVECSSLEEAFRAAEAG

Rat                           VVAAGSMEKAVLKARQAAGFPLKVEVECSSLKEALQAAEAG

Pig                           VVAAGGVEQAVQGARRAANFALKVEVECSSLQEALEAAEAG

Bovine                        VMAAGGVKKAVRAARRAADFALKVEVECSSLQEAVEAAEAG

Slime mold                    IWACGNITNTVKNARSVGGFSLKIEVECRNQNEAIEAIEAG

Baker's yeast                 IWATGSITNAVKNARAVCGFAVKIEVECLSEDEATEAIEAG

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 – 297	Nicotinate-nucleotide pyrophosphorylase [carboxylating]
Binding site	201 – 201
Turn	193 – 195

Literature citations
Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase.
Fukuoka S.; Nyaruhucha C.M.; Shibata K.;
Biochim. Biophys. Acta 1395:192-201(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; VARIANT ALA-195; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-195; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-195; Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-195; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.