Sequence information
Variant position: 511 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 736 The length of the canonical sequence.
Location on the sequence:
AVLTDTTSLNQAALYRLSGD
W NPLHIDPNFASLAGFDKPIL
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 AVLTDTTSLNQAALYRLSGDW NPLHIDPNFASLAGFDKPIL
Mouse AVLRDATSLNQAALYRLSGDW NPLHIDPDFASVAGFEKPIL
Rat AVLRDTTSLNQAALYRLSGDS NPLHIDPSFASIAGFEKPIL
Drosophila ATVQYTTSEDQAALYRLSGDK NPLHIDPQMALLAGFKTPIL
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
Chain
1 – 736
Peroxisomal multifunctional enzyme type 2
Chain
312 – 736
Enoyl-CoA hydratase 2
Domain
484 – 600
MaoC-like
Region
322 – 622
Enoyl-CoA hydratase 2
Region
510 – 515
(3R)-3-hydroxydecanoyl-CoA binding
Mutagenesis
505 – 505
Y -> A. Completely inactive.
Mutagenesis
510 – 510
D -> A. No hydratase activity.
Mutagenesis
515 – 515
H -> A. Completely inactive.
Mutagenesis
517 – 517
D -> A. No effect.
Literature citations
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
van Grunsven E.G.; Mooijer P.A.; Aubourg P.; Wanders R.J.;
Hum. Mol. Genet. 8:1509-1516(1999)
Cited for: VARIANT DBPD TYR-457; VARIANT ARG-511;
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.