Variant position: 199 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 539 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 IEQWNPVGLVGIITAFNFPV AVYGWNNAIAMICGNVCLWKG
Mouse IEMWNPLGLVGIITAFNFPV AVFGWNNAIALITGNVCLWKG
Rat MEQWNPLGLVGIITAFNFPV AVFGWNNAIALITGNVCLWKG
Bovine IEQWNPVGLVGIITAFNFPV AVYGWNNAIAMICGNACLWKG
Caenorhabditis elegans LEQWNPLGVVGVISAFNFPC AVYGWNNALALVTGNSVVWKP
Slime mold METWNPLGLVGIITAFNFPC AVLGWNAAISMICGNVQLWKG
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
27 – 539 Alpha-aminoadipic semialdehyde dehydrogenase
195 – 195 Transition state stabilizer
31 – 222 Missing. In isoform 3.
199 – 210
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Mills P.B.; Struys E.; Jakobs C.; Plecko B.; Baxter P.; Baumgartner M.; Willemsen M.A.A.P.; Omran H.; Tacke U.; Uhlenberg B.; Weschke B.; Clayton P.T.;
Nat. Med. 12:307-309(2006)
Cited for: VARIANTS PDE VAL-199 AND GLN-427; FUNCTION;
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.