Variant position: 127 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 FGLQVPEEYGGLGFSNTMYS RLGEIISMDGSITVTLAAHQA
Mouse FGIQVPEEYGGLGLSNTMYA RLGEIISLDASITVTLAAHQA
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Gerards M.; van den Bosch B.J.; Danhauser K.; Serre V.; van Weeghel M.; Wanders R.J.; Nicolaes G.A.; Sluiter W.; Schoonderwoerd K.; Scholte H.R.; Prokisch H.; Rotig A.; de Coo I.F.; Smeets H.J.;
Cited for: VARIANTS ACAD9 DEFICIENCY LYS-127; TRP-469 AND TRP-532;
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