Variant position: 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 192 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 EQYAQEHGLNFQRLLDTSTY KEAFRKDMIRWGEEKRQADPG
Mouse EEYAREHGLDFQRLLDASTY KETYRRDMICWGEQKRQADPG
Pig EQYAQEHGLDFQRLLDASTY KESYRKDMIRWGQEKRQADPG
Bovine EQYAQEHGLDFQRLMDASTY KEAYRSDMIRWGEEKRQADPG
Drosophila SEWARKLQLDLDALLGDGPY KEKYRRDMIVWSDEVRAQDYG
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 – 192 Phosphomevalonate kinase
69 – 69 K -> M. Approximately 500-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and R-MVP.
73 – 73 R -> M. Approximately 3000-fold decrease in Vmax for MgATP and R-MVP. No change in KM for MgATP and approximately 3-fold increase in KM for R-MVP.
84 – 84 R -> M. Approximately 10-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and 50-fold increase in KM for R-MVP.
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 POROK1; VARIANT POROK1 GLU-69;
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