Variant position: 249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 400 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 AESVVPARMAEMARCIRERD FPSFAQLTMKDSNQFHATCLD
Mouse AESVVPERMKEMTRCIQEQD FQGFAQLTMKDSNQFHATCLD
Rat AESIVPERMKEMTRCIQEQD FQAFAQLTMKDSNQFHATCLD
Bovine AEALVPPRMAEMTRCIRERN FQAFGQLTMKDSNQFHATCLD
Zebrafish ADAVVPGRMEEMIRAIRLRD FPKFGELTMKDSNQFHAICLD
Slime mold CAVTVPNRMRDIEEAINKKD FQTFGDITMKDSDDFHEVCAT
Baker's yeast IEHVVPKRFEVMRKAIVEKD FATFAKETMMDSNSFHATCLD
Fission yeast IQNIVPQRIQEMKTAIRERD FETFAKLTMTDSNQFHACCLD
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
2 – 400 Diphosphomevalonate decarboxylase
249 – 268
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z.; Li C.; Wu F.; Ma R.; Luan J.; Yang F.; Liu W.; Wang L.; Zhang S.; Liu Y.; Gu J.; Hua W.; Fan M.; Peng H.; Meng X.; Song N.; Bi X.; Gu C.; Zhang Z.; Huang Q.; Chen L.; Xiang L.; Xu J.; Zheng Z.; Jiang Z.;
Cited for: INVOLVEMENT IN POROK7; VARIANTS POROK7 ARG-101; VAL-128; GLN-161; LEU-161; GLN-228; TRP-228; SER-249; SER-292; ILE-371 DEL AND ARG-376;
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