Variant position: 202 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 GKNKTSVDAAEDYAEGVRVL GPL-ADYLVVNVSSPN-TAGLRS
Mouse GKNKTSVDAAADYVEGVRIL GPL-ADYLVVNVSSPN-TAGL
Rat GKNKTSEDAAADYAEGVRTL GPL-ADYLVVNVSSPN-TAGL
Bovine GKNKTSVDAASDYAEGVRVL GPL-ADYLVVNVSSPN-TAGL
Drosophila GRNKTTMSPIADYVQGVRVF GPV-ADYLVINVSSPN-TKGL
Slime mold GTASSAHDFLQDFVDTVRIA CDAGAKMVEVNYSCPNVVTGE
Baker's yeast DENLNLLRKIQD-------- SEF-NGITELNLSCPN-VPGK
Fission yeast GKNKNG-NEIEDYVEGVRTF GNF-ADILVINVSSPN-TPGL
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
214 – 214 Nucleophile
211 – 211
202 – 204
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.