Variant position: 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 412 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 CFALSEPGNGSDAGAASTTA RAEGDSWVLNGTKAWITNAWE
Mouse CFALSEPGNGSDAGAASTTA REEGDSWVLNGTKAWITNSWE
Rat CFALSEPGNGSDAGAASTTA REEGDSWVLNGTKAWITNSWE
Pig CFALSEPGNGSDAGAAATTA QADHDSWVLSGTKAWITNAWE
Bovine CFALSEPGNGSDAGAAATTA RADGDSWVLSGTKAWITNAWE
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
25 – 412 Short-chain specific acyl-CoA dehydrogenase, mitochondrial
161 – 161 Substrate; via carbonyl oxygen
169 – 173
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N.; Winter V.S.; Corydon M.J.; Corydon T.J.; Rinaldo P.; Ribes A.; Martinez G.; Bennett M.J.; Vianey-Saban C.; Bhala A.; Hale D.E.; Lehnert W.; Kmoch S.; Roig M.; Riudor E.; Eiberg H.; Andresen B.S.; Bross P.; Bolund L.A.; Koelvraa S.;
Hum. Mol. Genet. 7:619-627(1998)
Cited for: VARIANTS ACADSD CYS-92; ARG-177 AND CYS-383; VARIANTS TRP-171 AND SER-209;
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Corydon M.J.; Vockley J.; Rinaldo P.; Rhead W.J.; Kjeldsen M.; Winter V.S.; Riggs C.; Babovic-Vuksanovic D.; Smeitink J.; De Jong J.; Levy H.; Sewell A.C.; Roe C.; Matern D.; Dasouki M.; Gregersen N.;
Pediatr. Res. 49:18-23(2001)
Cited for: VARIANTS ACADSD SER-90; GLU-104 DEL; VAL-192; TRP-325; LEU-353 AND TRP-380; VARIANTS TRP-171 AND SER-209; CHARACTERIZATION OF VARIANTS ACADSD SER-90; GLU-104 DEL; VAL-192; TRP-325; LEU-353 AND TRP-380; CHARACTERIZATION OF VARIANTS TRP-171 AND SER-209; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
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