Variant position: 255 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 432 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 FLVDRDTPGLHIGKPENKLG LRASSTCPLTFENVKVPEANI
Mouse FLVDRDTEGFQIGKRENKMG IRASSTCQLTFENVKVPETNI
Rat FLVDRDTEGFQIGRRENKMG IRASSTCQLTFENVKVPETSV
Bovine FLVDGDTEGLHVGKPENKLG IRASSTCPVTFENVKVPKTNI
Slime mold FIVESNNPGLRIGKKEDKLG IRASSTCEVILDNCVVKPTDI
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
34 – 432 Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
2-methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.
Gibson K.M.; Burlingame T.G.; Hogema B.; Jakobs C.; Schutgens R.B.H.; Millington D.; Roe C.R.; Roe D.S.; Sweetman L.; Steiner R.D.; Linck L.; Pohowalla P.; Sacks M.; Kiss D.; Rinaldo P.; Vockley J.;
Pediatr. Res. 47:830-833(2000)
Cited for: VARIANT SBCADD PHE-255; CHARACTERIZATION OF VARIANT SBCADD PHE-255; FUNCTION; CATALYTIC ACTIVITY;
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Madsen P.P.; Kibaek M.; Roca X.; Sachidanandam R.; Krainer A.R.; Christensen E.; Steiner R.D.; Gibson K.M.; Corydon T.J.; Knudsen I.; Wanders R.J.; Ruiter J.P.N.; Gregersen N.; Andresen B.S.;
Hum. Genet. 118:680-690(2006)
Cited for: VARIANT SBCADD PHE-255;
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.