Variant position: 23 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:
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 AAAAAGEARRVLVYGGRGAL GSRCVQAFRARNWWVASVDVV
Mouse -MAASGEARRVLVYGGRGAL GSRCVQAFRARNWWVASIDVV
Rat -MAASGEARRVLVYGGRGAL GSRCVQAFRARNWWVASIDVV
Pig AAAAAGEARRVLVYGGRGAL GSRCVQAFRARNWWVASIDVV
Bovine MAAAAGEARRVLVYGGRGAL GSRCVQAFRARNWWVASIDVQ
Slime mold ------MSKNILVLGGSGAL GAEVVKFFKSKSWNTISIDFR
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
2 – 244 Dihydropteridine reductase
14 – 38 NADP
21 – 32
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;
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
Dianzani I.; Howells D.W.; Ponzone A.; Saleeba J.A.; Smooker P.M.; Cotton R.G.H.;
J. Med. Genet. 30:465-469(1993)
Cited for: VARIANTS HPABH4C ASP-23 AND GLY-108;
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).
Romstad A.; Kalkanoglu H.S.; Coskun T.; Demirkol M.; Tokatli A.; Dursun A.; Baykal T.; Oezalp I.; Guldberg P.; Guettler F.;
Hum. Genet. 107:546-553(2000)
Cited for: VARIANTS HPABH4C ARG-17; ASP-18; ASP-23; ARG-66; ARG-149 AND CYS-150;
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.