Variant position: 244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 395 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 QGKAEL-RRLLTKVLQERDGL RRVHRPA--------VLVKIAPDLTSQDK
Mouse QGKTEL-RRLLSKVLQERDAL KGPQKPA--------VLVKI
Rat QGKTEL-RHLLSKVLQERDAL KGTRKPA--------VLVKI
Bovine QGKAEL-RRLLTKVLQERDAL KVAHKPA--------VLVKI
Drosophila QSKEKL-RELLEQVNDTKSSL DKNKNVP--------ILLKL
Slime mold YHNPDAVYEISSTLVKE---L SSKNIPLIIKVGVMDDLEKM
Baker's yeast AYDFDLTKETLEKVFAFFKKP LGVKLPPYFDFAHFDIMAKI
Fission yeast QKKSAL-STLLTAVVSERNKL NSPH-PP--------VLVKI
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
1 – 395 Dihydroorotate dehydrogenase (quinone), mitochondrial
31 – 395 Mitochondrial intermembrane
254 – 254
Exome sequencing identifies the cause of a Mendelian disorder.
Ng S.B.; Buckingham K.J.; Lee C.; Bigham A.W.; Tabor H.K.; Dent K.M.; Huff C.D.; Shannon P.T.; Jabs E.W.; Nickerson D.A.; Shendure J.; Bamshad M.J.;
Nat. Genet. 42:30-35(2010)
Cited for: VARIANTS POADS GLU-19; CYS-135; ARG-152; CYS-199; ALA-202; ASP-202; TRP-244; ILE-284; TRP-346 AND GLY-392;
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.