Variant position: 268 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 GIPSGVYNVIPCSRKNAKEV GEAICTDPLVSKISFTGSTTT
Gorilla GIPSGVYNVIPCSRKNAKEV GEAICTDPLVSKISFTGSTTT
Chimpanzee GIPSGVYNVIPCSRKNAKEV GEAICTDPLVSKISFTGSTTT
Mouse GIPAGVYNVIPCSRNKAKEV GEVLCTDPLVSKISFTGSTAT
Rat GIPPGVYNVIPCSRTKAKEV GEVLCTDPLVSKISFTGSTAT
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
265 – 265 N6-acetyllysine; alternate
265 – 265 N6-succinyllysine; alternate
261 – 271
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
Hogema B.M.; Akaboshi S.; Taylor M.; Salomons G.S.; Jakobs C.; Schutgens R.B.; Wilcken B.; Worthington S.; Maropoulos G.; Grompe M.; Gibson K.M.;
Mol. Genet. Metab. 72:218-222(2001)
Cited for: VARIANTS SSADHD GLU-268 AND ASP-409;
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Akaboshi S.; Hogema B.M.; Novelletto A.; Malaspina P.; Salomons G.S.; Maropoulos G.D.; Jakobs C.; Grompe M.; Gibson K.M.;
Hum. Mutat. 22:442-450(2003)
Cited for: VARIANTS SSADHD PHE-93; ARG-176; TYR-223; MET-233; SER-255; GLU-268; LYS-335; GLN-382; LEU-382; ASP-409 AND ARG-533; VARIANTS ARG-36; TYR-180; LEU-182; SER-237 AND ILE-406; CHARACTERIZATION OF VARIANTS ARG-36; PHE-93; ARG-176; TYR-180; LEU-182; TYR-223; MET-233; SER-237; SER-255; GLU-268; LYS-335; LEU-382; ASP-409 AND ARG-533;
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