Variant position: 248 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 475 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 PLPEGKLKEEIEVMAKSIDF PLTK--VYVVEGSKRSSHSNAYF
Mouse PLPEGKLKQEIEVMAKSIDF PLTK--VYVVEGSKRSSHSNA
Caenorhabditis elegans PLPDGDLKTKIEQLAASLSY PLTE--LYVVNGSKRSAHSNA
Slime mold PV-DGELAESIFALAKRVGF PASKDTIFVVDNSKRDGHMNA
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
1 – 475 CAAX prenyl protease 1 homolog
217 – 347 Nuclear
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
Miyoshi Y.; Akagi M.; Agarwal A.K.; Namba N.; Kato-Nishimura K.; Mohri I.; Yamagata M.; Nakajima S.; Mushiake S.; Shima M.; Auchus R.J.; Taniike M.; Garg A.; Ozono K.;
Clin. Genet. 73:535-544(2008)
Cited for: VARIANT MADB LEU-248; CHARACTERIZATION OF VARIANT MADB;
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Ahmad Z.; Zackai E.; Medne L.; Garg A.;
Am. J. Med. Genet. A 152:2703-2710(2010)
Cited for: VARIANT MADB LEU-248;
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