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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09417: Variant p.Ser51Thr

Dihydropteridine reductase
Gene: QDPR
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Variant information Variant position: help 51
Type of variant: help LB/B
Residue change: help From Serine (S) to Threonine (T) at position 51 (S51T, p.Ser51Thr).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (T)
BLOSUM score: help 1


Sequence information Variant position: help 51
Protein sequence length: help 244
Location on the sequence: help RARNWWVASVDVVENEEASA S IIVKMTDSFTEQADQVTAEV
Residue conservation: help 
Human                         RARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEV

Mouse                         RARNWWVASIDVVENEEASASVVVKMTDSFTEQADQVTADV

Rat                           RARNWWVASIDVVENEEASASVIVKMTDSFTEQADQVTAEV

Pig                           RARNWWVASIDVVENEEASANVVVKMTDSFTEQADQVTAEV

Bovine                        RARNWWVASIDVQENEEASANVVVKMTDSFTEQADQVTAEV

Slime mold                    KSKSWNTISIDFRENPNADHSFTIK--DSGEEEIKSVIEKI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 244 Dihydropteridine reductase
Alternative sequence 36 – 66 Missing. In isoform 2.
Beta strand 48 – 53



Literature citations
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
Dahl H.-H.M.; Hutchison W.; McAdam W.; Wake S.; Morgan F.J.; Cotton R.G.H.;
Nucleic Acids Res. 15:1921-1932(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-51; Structure and expression of human dihydropteridine reductase.
Lockyer J.; Cook R.G.; Milstien S.; Kaufman S.; Woo S.L.C.; Ledley F.D.;
Proc. Natl. Acad. Sci. U.S.A. 84:3329-3333(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-51; FUNCTION; CATALYTIC ACTIVITY; Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Dianzani I.; de Sanctis L.; Smooker P.M.; Gough T.J.; Alliaudi C.; Brusco A.; Spada M.; Blau N.; Dobos M.; Zhang H.-P.; Yang N.; Ponzone A.; Armarego W.L.F.; Cotton R.G.H.;
Hum. Mutat. 12:267-273(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THR-51; VARIANTS HPABH4C ASP-23; CYS-150; TYR-158 AND ILE-THR-GLY-218 INS;
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.