Variant position: 220 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 621 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 EDKKHYILNGSKVWITNGGL ANIFTVFAKTEVVDSDGSVKD
Mouse EDKKYFILNGSKVWITNGGL ANIFTVFAKTEVVDSDGSKTD
A patient with complex I deficiency caused by a novel ACAD9 mutation not responding to riboflavin treatment.
Nouws J.; Wibrand F.; van den Brand M.; Venselaar H.; Duno M.; Lund A.M.; Trautner S.; Nijtmans L.; Ostergard E.;
JIMD Rep. 12:37-45(2014)
Cited for: VARIANT ACAD9 DEFICIENCY VAL-220;
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