UniProtKB/Swiss-Prot P22234: Variant p.Lys53Arg

Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase
Gene: PAICS
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Variant information Variant position:

53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Lysine (K) to Arginine (R) at position 53 (K53R, p.Lys53Arg). 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 large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 PAICSD; uncertain significance; no effect on protein abundance; decreased phosphoribosylaminoimidazole carboxylase activity; decreased phosphoribosylaminoimidazolesuccinocarboxamide synthase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs192831239 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LQSKDQITAGNAARKNHLEG K AAISNKITSCIFQLLQEAGI 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                         LQSKDQITAG--NAARKNHLEGKAA----------------------------------------------------------ISNKITSCIFQLLQEAGI

Mouse                         LQSKDQITAG--NAARKNHLEGKAA----------------

Rat                           LQSKDQITAG--NAARKNHLEGKAA----------------

Chicken                       MQSKDQITAG--NAARKDRMEGKAA----------------

Caenorhabditis elegans        IRSKDSLTAF--NAVRKNELEGKSR----------------

Drosophila                    LLSKDRITAG--DGVKAHDLAGKAE----------------

Baker's yeast                 SNSNDHVNGSFSNPLDIEKLAEKCDVLTIEIEHVDVPTLKN

Fission yeast                 DGGREHIDASFTDPDAIVELSKKCTLLTTEIEHINTDALAA

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 – 425	Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase
Region	2 – 260	SAICAR synthetase domain
Modified residue	36 – 36	N6-acetyllysine
Alternative sequence	72 – 72	G -> VTSYKSNR. In isoform 2.
Helix	53 – 71

Literature citations
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Pelet A.; Skopova V.; Steuerwald U.; Baresova V.; Zarhrate M.; Plaza J.M.; Hnizda A.; Krijt M.; Souckova O.; Wibrand F.; Andorsdottir G.; Joensen F.; Sedlak D.; Bleyer A.J.; Kmoch S.; Lyonnet S.; Zikanova M.;
Hum. Mol. Genet. 28:3805-3814(2019)
Cited for: INVOLVEMENT IN PAICSD; VARIANT PAICSD ARG-53; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; CHARACTERIZATION OF VARIANT PAICSD ARG-53;

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.