Variant position: 583 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1024 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 TENKISDQDLNRMRSELLVP GSQ------LILGPHESK---IPILLIQQP
Caenorhabditis elegans -------------------- -----------------K---
Baker's yeast SRT----QSYNNQNTLKEIS ARRYKL---LTATPNSINKTT
Fission yeast IRTMCLEQSLSACAIMKRVY FRHFNLRERWLHAPEKIKRCS
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 – 1024 Ribonucleases P/MRP protein subunit POP1
584 – 584 Phosphoserine
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
Glazov E.A.; Zankl A.; Donskoi M.; Kenna T.J.; Thomas G.P.; Clark G.R.; Duncan E.L.; Brown M.A.;
PLoS Genet. 7:E1002027-E1002027(2011)
Cited for: INVOLVEMENT IN ANXD2; VARIANT ANXD2 GLU-583;
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