UniProtKB/Swiss-Prot O15067 : Variant p.Pro367Leu
Phosphoribosylformylglycinamidine synthase
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Variant information
Variant position:
367
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
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:
367 (P367L, p.Pro367Leu).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
367
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:
P SFQYPGNFARPLEVAIEASN
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 TAGYCFGNLHIPGYNLPWEDP SFQYPGNFARPLEVAIEASN
Mouse TAGYCFGNLHIPDYNLPWEDP SFQYPGNFARPLEVAIEASN
Caenorhabditis elegans TVGYSFGNLNLPGLPLPWEDE TFEYPTSISEPAKIAIEASN
Drosophila TAGYCVGALHIPGYKQPYEPL DFKYPATFAPPLQVLIEASN
Slime mold TVGYCVGNLNIPGYELPWENK EYNYPDNMANPLKIEIEASN
Baker's yeast LSGFSVSDLLIPGNEQPWE-L NIGKPYHIASALDIMIEAPL
Fission yeast LAGYSVSDLNIPGYKQPWE-L DVGKPYHIATSLDIMLEAPI
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
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;
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.
