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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y617: Variant p.Asp100Ala

Phosphoserine aminotransferase
Gene: PSAT1
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Variant information Variant position: help 100 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Alanine (A) at position 100 (D100A, p.Asp100Ala). 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: help Change from medium size and acidic (D) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In PSATD; 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; does not affect secondary structure; results in increased protein aggregation as shown by dynamic light scattering. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 100 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 370 The length of the canonical sequence.
Location on the sequence: help CGQFSAVPLNLIGLKAGRCA D YVVTGAWSAKAAEEAKKFGT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CGQFSAVPLNLIGLKAGR-------CADYVVTGAWSAKAAEEAKKFGT

Mouse                         SGQFSAVPLNLIGLKAGR-------SADYVVTGAWSAKAAE

Rabbit                        CGQFSAVPLNLIGLKPGR-------CADYVVTGAWSAKAAE

Caenorhabditis elegans        TGQFAAIPLNLKGDHEH---------ADYIVTGAWSSKAAD

Drosophila                    TGQFAAVALNLIGKTGT---------ADYVITGSWSAKAAK

Slime mold                    SSLFAGIPMNLCENGVED-------IVDFIVTGSWSKQASN

Baker's yeast                 TTGFSSVATNLAAAYVGKHG--KIAPAGYLVTGSWSQKSFE

Fission yeast                 TEQFAACLYNVYAHHALKNGNAKSLVANYIITGAWSKKAYA
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 370 Phosphoserine aminotransferase
Binding site 80 – 80
Binding site 107 – 107
Beta strand 98 – 102



Literature citations
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
Hart C.E.; Race V.; Achouri Y.; Wiame E.; Sharrard M.; Olpin S.E.; Watkinson J.; Bonham J.R.; Jaeken J.; Matthijs G.; Van Schaftingen E.;
Am. J. Hum. Genet. 80:931-937(2007)
Cited for: VARIANT PSATD ALA-100; INVOLVEMENT IN PSATD; BIOPHYSICOCHEMICAL PROPERTIES; 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.