Variant position: 487 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 535 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 AGYFYSQDPAQIWRVAEQLE VGMVGVNEGLISSVECPFGGV
Gorilla AGYFYSQDPAQIWRVAEQLE VGMVGVNEGLISSVECPFGGV
Chimpanzee AGYFYSQDPAQIWRVAEQLE VGMVGVNEGLISSVECPFGGV
Mouse AGYFYSQDPAQIWRVAEQLE VGMVGVNEGLISSVECPFGGV
Rat AGYFYSQDPAQIWRVAEQLE VGMVGVNEGLISSVECPFGGV
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
48 – 535 Succinate-semialdehyde dehydrogenase, mitochondrial
498 – 498 Substrate
499 – 499 Phosphoserine
498 – 498 S -> A. Reduces catalytic activity to less than 15% of wild-type.
487 – 493
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene.
Aoshima T.; Kajita M.; Sekido Y.; Ishiguro Y.; Tsuge I.; Kimura M.; Yamaguchi S.; Watanabe K.; Shimokata K.; Niwa T.;
Hum. Hered. 53:42-44(2002)
Cited for: VARIANT SSADHD GLU-487;
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