Variant position: 312 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 510 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 KVAAKVAALTGLPFVTAPNK FEALAAHDALVELSGAMNTTA
Mouse KVAAKVAALTGLPFVTAPNK FEALAAHDALVELSGAMNTAA
Rat KVAAKVAALTGLPFVTAPNK FEALAAHDALVELSGAMNTTA
Pig KVAAKVAALTGLPFVTAPNK FEALAAHDALVELSGAMNTTA
Zebrafish KVADKVSALTGLPFVTAANK FEALAAHDALVELSGALNTVA
Caenorhabditis elegans KVAATVSELTGLPFVTAPNK FEALAAHDALVEVHGALNTVA
Slime mold DIASEVAKFTGLPFKTAPNK FEALAAHDAMVEVSGALNTVA
Baker's yeast KIAEQISKETGLKFQTAPNK FEALAAHDAIVECSGALNTLA
Fission yeast KVAEKVSKLTNIEFKTAPNK FEALAAHDAIVEMSGALNVIA
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
45 – 510 Fumarate hydratase, mitochondrial
292 – 292 N6-acetyllysine; alternate
292 – 292 N6-succinyllysine; alternate
311 – 316
Molecular analysis and prenatal diagnosis of human fumarase deficiency.
Coughlin E.M.; Christensen E.; Kunz P.L.; Krishnamoorthy K.S.; Walker V.; Dennis N.R.; Chalmers R.A.; Elpeleg O.N.; Whelan D.; Pollitt R.J.; Ramesh V.; Mandell R.; Shih V.E.;
Mol. Genet. Metab. 63:254-262(1998)
Cited for: VARIANTS FMRD ARG-230; THR-308; CYS-312 AND VAL-425;
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.