UniProtKB/Swiss-Prot O15067: Variant p.Leu621Pro

Phosphoribosylformylglycinamidine synthase
Gene: PFAS
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Variant information Variant position:

621 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 Leucine (L) to Proline (P) at position 621 (L621P, p.Leu621Pro). 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:

-3 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
Other resources:

Links to websites of interest for the variant.

Variant rs11078738 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1338 The length of the canonical sequence.
Location on the sequence:

VDDRECPVRRNGQGDAPPTP L PTPVDLELEWVLGKMPRKEF 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                         VDDRECPVRRNGQGDAPPTPLPT------PVDLELEWVLGKMPRKEF

Mouse                         VDDRECLVGKTGQGD-APLTPPT------PVDLDLDWVLGK

Caenorhabditis elegans        L-------GKSGE---------I------AVDLDTRQ-LGE

Drosophila                    L-------EKPAPKDLEQALNASNRSEVSPFDLELKYVLGD

Slime mold                    I-------TKDGE---------T------PVNLPLDKVLQK

Baker's yeast                 E---------------DPLLKTT------PIDLEMPILFGK

Fission yeast                 T---------------DRLYNTT------PIDLPMEVLFGK

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 – 1338	Phosphoribosylformylglycinamidine synthase
Modified residue	619 – 619	Phosphothreonine
Modified residue	623 – 623	Phosphothreonine

Literature citations
Human phosphoribosylformylglycinamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis.
Patterson D.; Bleskan J.; Gardiner K.; Bowersox J.;
Gene 239:381-391(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SER-19; LEU-367 AND PRO-621; FUNCTION; CATALYTIC ACTIVITY; Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Nagase T.; Ishikawa K.; Nakajima D.; Ohira M.; Seki N.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 4:141-150(1997)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS SER-19; LEU-367 AND PRO-621; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS SER-19; LEU-367 AND PRO-621; Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
Mayya V.; Lundgren D.H.; Hwang S.-I.; Rezaul K.; Wu L.; Eng J.K.; Rodionov V.; Han D.K.;
Sci. Signal. 2:RA46-RA46(2009)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-619 AND THR-623; VARIANT [LARGE SCALE ANALYSIS] PRO-621; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Olsen J.V.; Vermeulen M.; Santamaria A.; Kumar C.; Miller M.L.; Jensen L.J.; Gnad F.; Cox J.; Jensen T.S.; Nigg E.A.; Brunak S.; Mann M.;
Sci. Signal. 3:RA3-RA3(2010)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-569 AND THR-619; VARIANT [LARGE SCALE ANALYSIS] PRO-621; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
Rigbolt K.T.; Prokhorova T.A.; Akimov V.; Henningsen J.; Johansen P.T.; Kratchmarova I.; Kassem M.; Mann M.; Olsen J.V.; Blagoev B.;
Sci. Signal. 4:RS3-RS3(2011)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-569; VARIANT [LARGE SCALE ANALYSIS] PRO-621; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Gauci S.; Helbig A.O.; Slijper M.; Krijgsveld J.; Heck A.J.; Mohammed S.;
Anal. Chem. 81:4493-4501(2009)
Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-621; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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