Variant position: 298 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 633 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 SHDDIKLEKSNILLLGPTGS GKTLLAQTLAKCLDVPFAICD
Mouse SQDDIKLEKSNILLLGPTGS GKTLLAQTLAKCLDVPFAICD
Rat PHDDIKLEKSNILLLGPTGS GKTLLAQTLAKCLDVPFAICD
Baker's yeast --EDLELSKSNVLVVGPSGS GKTLLATTLAKILNVPIAITD
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
57 – 633 ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial
294 – 301 ATP
Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
Yien Y.Y.; Ducamp S.; van der Vorm L.N.; Kardon J.R.; Manceau H.; Kannengiesser C.; Bergonia H.A.; Kafina M.D.; Karim Z.; Gouya L.; Baker T.A.; Puy H.; Phillips J.D.; Nicolas G.; Paw B.H.;
Proc. Natl. Acad. Sci. U.S.A. 114:E8045-E8052(2017)
Cited for: INVOLVEMENT IN EPP2; FUNCTION; VARIANT EPP2 ASP-298; CHARACTERIZATION OF VARIANT EPP2 ASP-298;
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