Variant position: 138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 290 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 KHWDHLTQVKKPVIAAVNGY AFGGGCELAMMCDIIYAGEKA
Mouse SHWDHITRVKKPVIAAVNGY ALGGGCELAMMCDIIYAGEKA
Rat SHWDHITRIKKPVIAAVNGY ALGGGCELAMMCDIIYAGEKA
Bovine SHWDQLTRVKKPVIAAVNGY ALGGGCELAMMCDIIYAGEKA
Caenorhabditis elegans SNWTAVSDVKKPVIAAVNGF ALGGGNELAMMCDIIYAGEKA
Slime mold AQWHDLTKIRKPIIAAVNGY ALGGGCELAMMCDIIIAGEKA
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
28 – 290 Enoyl-CoA hydratase, mitochondrial
141 – 141 Substrate; via amide nitrogen
118 – 118 N6-acetyllysine
136 – 139
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
Yamada K.; Aiba K.; Kitaura Y.; Kondo Y.; Nomura N.; Nakamura Y.; Fukushi D.; Murayama K.; Shimomura Y.; Pitt J.; Yamaguchi S.; Yokochi K.; Wakamatsu N.;
J. Med. Genet. 52:691-698(2015)
Cited for: VARIANTS ECHS1D SER-59 AND VAL-138; FUNCTION; BIOPHYSICOCHEMICAL PROPERTIES; CATALYTIC ACTIVITY; PATHWAY;
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.