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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15067: Variant p.Pro367Leu

Phosphoribosylformylglycinamidine synthase
Gene: PFAS
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Variant information Variant position: help 367
Type of variant: help LB/B
Residue change: help From Proline (P) to Leucine (L) at position 367 (P367L, p.Pro367Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 367
Protein sequence length: help 1338
Location on the sequence: help TAGYCFGNLHIPGYNLPWED P SFQYPGNFARPLEVAIEASN
Residue conservation: help
Human                         TAGYCFGNLHIPGYNLPWEDPSFQYPGNFARPLEVAIEASN

Mouse                         TAGYCFGNLHIPDYNLPWEDPSFQYPGNFARPLEVAIEASN

Caenorhabditis elegans        TVGYSFGNLNLPGLPLPWEDETFEYPTSISEPAKIAIEASN

Drosophila                    TAGYCVGALHIPGYKQPYEPLDFKYPATFAPPLQVLIEASN

Slime mold                    TVGYCVGNLNIPGYELPWENKEYNYPDNMANPLKIEIEASN

Baker's yeast                 LSGFSVSDLLIPGNEQPWE-LNIGKPYHIASALDIMIEAPL

Fission yeast                 LAGYSVSDLNIPGYKQPWE-LDVGKPYHIATSLDIMLEAPI

Sequence annotation in neighborhood: help
TypePositionsDescription
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.