Sequence information
Variant position: 243 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 576 The length of the canonical sequence.
Location on the sequence:
VTGLVHKWAWTKDDVILHVL
P LHHVHGVVNALLCPLWVGAT
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 VTGLVHKWAWTKDDVILHVLP LHHVHGVVNALLCPLWVGAT
Mouse VTGLVHSWAWTKNDVILHVLP LHHVHGVVNKLLCPLWVGAT
Bovine VTGLVHKWAWTKDDVILHVLP LHHVHGVVNKLLCPLWVGAT
Xenopus laevis VTALVNEWGWTKEDSILHVLP LHHVHGVVNKLMCPLWVGAT
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
84 – 576
Malonate--CoA ligase ACSF3, mitochondrial
Literature citations
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan J.L.; Johnston J.J.; Manoli I.; Chandler R.J.; Krause C.; Carrillo-Carrasco N.; Chandrasekaran S.D.; Sysol J.R.; O'Brien K.; Hauser N.S.; Sapp J.C.; Dorward H.M.; Huizing M.; Barshop B.A.; Berry S.A.; James P.M.; Champaigne N.L.; de Lonlay P.; Valayannopoulos V.; Geschwind M.D.; Gavrilov D.K.; Nyhan W.L.; Biesecker L.G.; Venditti C.P.;
Nat. Genet. 43:883-886(2011)
Cited for: VARIANTS CMAMMA ARG-198; LEU-243; ILE-358; LYS-359; THR-462; 465-GLN--GLY-470 DEL; GLN-471; TRP-471; SER-480 AND TRP-558; FUNCTION; SUBCELLULAR LOCATION;
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.