UniProtKB/Swiss-Prot P60891: Variant p.Val142Leu

Ribose-phosphate pyrophosphokinase 1
Gene: PRPS1
Feedback?

Variant information Variant position:

142 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 Valine (V) to Leucine (L) at position 142 (V142L, p.Val142Leu). 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:

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:

Found in a patient with an intermediate phenotype between ARTS and PRPS1 superactivity; likely pathogenic; normal PRPP synthetase activity in fibroblasts; loss of activity in erythrocytes. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs398122855 [ dbSNP | Ensembl ]

Sequence information Variant position:

142 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:

DHIITMDLHASQIQGFFDIP V DNLYAEPAVLKWIRENISEW 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                         DHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEW

Mouse                         DHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEW

Rat                           DHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEW

Bovine                        DHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEW

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.
Beta strand	142 – 145

Literature citations
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Moran R.; Kuilenburg A.B.; Duley J.; Nabuurs S.B.; Retno-Fitri A.; Christodoulou J.; Roelofsen J.; Yntema H.G.; Friedman N.R.; van Bokhoven H.; de Brouwer A.P.;
Am. J. Med. Genet. A 158A:455-460(2012)
Cited for: INVOLVEMENT IN DISEASE; VARIANT LEU-142; CHARACTERIZATION OF VARIANT LEU-142;

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.