Variant position: 427 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 NYVEPTIVTGLGHDASIAHT ETFAPILYVFKFKNEEEVFAW
Mouse NYVEPTIVTGLAHDAPIVHQ ETFAPILYVFKFQDEEEVFEW
Rat NYVEPTIVTGLVHDAPIVHK ETFAPILYVFKFKNEEEVFEW
Bovine NYVEPTIVTGLDHDASIVHT ETFAPILYVFKFKNEDEVFAW
Caenorhabditis elegans NFVLPTIVTGLKHDSPVVLR ETFAPILYVLKFSTLEEAIAI
Slime mold NFVEPTVVA-IEHDAPIVKT ELFVPILYIMKFKNLDDAFAW
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
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;
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;
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.