Variant position: 335 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 VPSALFAAVGTAGQRCTTAR RLFIHESIHDEVVNRLKKAYA
Mouse VPSVLFAAVGTAGQRCTTVR RLFLHESIHNEVVDRLRSAYS
Rat LPSALFAAVGTAGQRCTTVR RLFLHESIHDEVVDRLKNAYS
Bovine VPSALFAAVGTAGQRCTTAR RLFLHESIHDEVVNRLKKAYA
Caenorhabditis elegans VPATVFAAVGTAGQRCTTTR RLIVHDKVYDQVLERLKKAYA
Slime mold LRAVLFASVGTTGQRCTTCR RLFVHESLYDTILERLTKAYK
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
330 – 330 Nucleophile
333 – 339
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Plecko B.; Paul K.; Paschke E.; Stoeckler-Ipsiroglu S.; Struys E.; Jakobs C.; Hartmann H.; Luecke T.; di Capua M.; Korenke C.; Hikel C.; Reutershahn E.; Freilinger M.; Baumeister F.; Bosch F.; Erwa W.;
Hum. Mutat. 28:19-26(2007)
Cited for: VARIANTS PDE VAL-202; GLU-291; ILE-301; GLN-335; GLY-395; GLN-427 AND ASN-458;
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