Variant position: 108 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 GGWAGGNAKSKSLFKNCDLM WKQSIWTSTISSHLATKHLKE
Mouse GGWAGGNAKSKSLFKNCDMM WKQSMWTSTISSHLATKHLKE
Rat GGWAGGNAKSKSLFKNCDLM WKQSIWTSTISSHLATKHLKE
Pig GGWAGGNAKSKSLFKNCDLM WKQSMWTSTISSHLATKHLKE
Bovine GGWAGGNAKSKSLFKNCDLM WKQSVWTSTISSHLATKHLKE
Slime mold GGWSGGNASSDEFLKSVKGM IDMNLYSAFASAHIGAKLLNQ
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
96 – 96 N6-succinyllysine
102 – 102 N6-succinyllysine
100 – 110
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;
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.