UniProtKB/Swiss-Prot Q9Y617: Variant p.Pro87Ala

Phosphoserine aminotransferase
Gene: PSAT1
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Variant information Variant position:

87 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 Proline (P) to Alanine (A) at position 87 (P87A, p.Pro87Ala). 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 hydrophobic (P) to small size and hydrophobic (A) 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:

Has no effect on O-phospho-L-serine:2-oxoglutarate aminotransferase catalytic efficiency; does not affect KM for 3-phosphohydroxypyruvate; does not affect KM for L-glutamate; no effect on function in L-serine biosynthesis shown through in vitro reconstruction of the phosphorylated pathway; does not affect secondary structure; does not affect dimerization; does not affect thermal stability. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11540974 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PDNYKVIFLQGGGCGQFSAV P LNLIGLKAGRCADYVVTGAW 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                         PDNYKVIFLQGGGCGQFSAVPLNLIGLKAGR-------CADYVVTGAW

Mouse                         PNNYKVIFVQGGGSGQFSAVPLNLIGLKAGR-------SAD

Rabbit                        PDNYKVIFLQGGGCGQFSAVPLNLIGLKPGR-------CAD

Caenorhabditis elegans        PDNFEILFMQGGGTGQFAAIPLNLKGDHEH---------AD

Drosophila                    PSNYKILLMQGGGTGQFAAVALNLIGKTGT---------AD

Slime mold                    SDDYDILFLQGGASSLFAGIPMNLCENGVED-------IVD

Baker's yeast                 PDTHEVFYLQGGGTTGFSSVATNLAAAYVGKHG--KIAPAG

Fission yeast                 PENFHILFMQGGGTEQFAACLYNVYAHHALKNGNAKSLVAN

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 – 370	Phosphoserine aminotransferase
Binding site	79 – 79
Binding site	80 – 80
Binding site	107 – 107
Helix	78 – 90

Literature citations
Phosphoserine aminotransferase pathogenetic variants in serine deficiency disorders: A functional characterization.
Marchesani F.; Michielon A.; Viale E.; Bianchera A.; Cavazzini D.; Pollegioni L.; Murtas G.; Mozzarelli A.; Bettati S.; Peracchi A.; Campanini B.; Bruno S.;
Biomolecules 13:0-0(2023)
Cited for: CHARACTERIZATION OF VARIANTS PSATD ARG-43 AND ALA-100; CHARACTERIZATION OF VARIANTS NLS2 TRP-79; VAL-99; LEU-179; ARG-245 AND TRP-342; CHARACTERIZATION OF VARIANT ALA-87; FUNCTION; PATHWAY; BIOPHYSICOCHEMICAL PROPERTIES; CATALYTIC ACTIVITY; SUBUNIT;

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.