UniProtKB/SwissProt variant VAR

Ribose-phosphate pyrophosphokinase 1
Gene: PRPS1
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Variant information Variant position:

133 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 Glutamine (Q) to Proline (P) at position 133 (Q133P, p.Gln133Pro). 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 (Q) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 ARTS. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs80338675 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ANMLSVAGADHIITMDLHAS Q IQGFFDIPVDNLYAEPAVLK 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                         ANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLK

Mouse                         ANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLK

Rat                           ANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLK

Bovine                        ANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLK

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 – 318	Ribose-phosphate pyrophosphokinase 1
Binding site	128 – 128
Binding site	130 – 130
Binding site	130 – 130
Binding site	139 – 139
Binding site	143 – 143
Mutagenesis	132 – 132	S -> A. Reduces catalytic activity.
Mutagenesis	132 – 132	S -> F. No effect on catalytic activity.
Mutagenesis	144 – 144	N -> H. No effect on catalytic activity.
Mutagenesis	146 – 146	Y -> F. No effect on catalytic activity.
Mutagenesis	146 – 146	Y -> M. Reduces catalytic activity.
Helix	132 – 137

Literature citations
Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer A.P.M.; Williams K.L.; Duley J.A.; van Kuilenburg A.B.P.; Nabuurs S.B.; Egmont-Petersen M.; Lugtenberg D.; Zoetekouw L.; Banning M.J.G.; Roeffen M.; Hamel B.C.J.; Weaving L.; Ouvrier R.A.; Donald J.A.; Wevers R.A.; Christodoulou J.; van Bokhoven H.;
Am. J. Hum. Genet. 81:507-518(2007)
Cited for: VARIANTS ARTS PRO-133 AND PRO-152;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P60891: Variant p.Gln133Pro