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UniProtKB/Swiss-Prot P49419: Variant p.Asn301Ile

Alpha-aminoadipic semialdehyde dehydrogenase
Gene: ALDH7A1
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Variant information Variant position: help 301
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Isoleucine (I) at position 301 (N301I, p.Asn301Ile).
Physico-chemical properties: help Change from medium size and polar (N) to medium size and hydrophobic (I)
BLOSUM score: help -3
Variant description: help In EPEO4.
Other resources: help


Sequence information Variant position: help 301
Protein sequence length: help 539
Location on the sequence: help QVGLMVQERFGRSLLELGGN N AIIAFEDADLSLVVPSALFA
Residue conservation: help 
Human                         QVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFA

Mouse                         EVALMVQERFGKSLLELGGNNAIIAFEDADLSLVVPSVLFA

Rat                           QVALMVQERFGKSLLELGGNNAIIAFEDADLSLVLPSALFA

Bovine                        QVALMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFA

Caenorhabditis elegans        IVGQQVQARFGKLLLELGGNNAIIVNEDADLNMVVPATVFA

Slime mold                    RISSTVHGYFGKTILELGGNNAIVVAEDADIELVLRAVLFA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 27 – 539 Alpha-aminoadipic semialdehyde dehydrogenase
Active site 296 – 296 Proton acceptor
Beta strand 301 – 305



Literature citations
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 EPEO4 VAL-202; GLU-291; ILE-301; GLN-335; GLY-395; GLN-427 AND ASN-458;
Disclaimer: 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.