UniProtKB/Swiss-Prot P09417: Variant p.Ser51Thr

Dihydropteridine reductase
Gene: QDPR
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Variant information Variant position:

51 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 Serine (S) to Threonine (T) at position 51 (S51T, p.Ser51Thr). 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:

Change from small size and polar (S) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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

Sequence information Variant position:

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

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

RARNWWVASVDVVENEEASA S IIVKMTDSFTEQADQVTAEV 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                         RARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEV

Mouse                         RARNWWVASIDVVENEEASASVVVKMTDSFTEQADQVTADV

Rat                           RARNWWVASIDVVENEEASASVIVKMTDSFTEQADQVTAEV

Pig                           RARNWWVASIDVVENEEASANVVVKMTDSFTEQADQVTAEV

Bovine                        RARNWWVASIDVQENEEASANVVVKMTDSFTEQADQVTAEV

Slime mold                    KSKSWNTISIDFRENPNADHSFTIK--DSGEEEIKSVIEKI

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	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.