Variant position: 272 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 531 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 ILQSVKAR----EEGRAPEQRPAP NAAPVDPTLRTKQPIPAAYNR
Mouse ILQSVKAR----EEGRAPEQRPAP NAAPVDPTLRTKQPIPA
Rat ILQSVKAR----EEGRAPEQRPAP NAAPVDPTLRTKQPIPA
Chicken ILQSVKAR----EEGRAPEQRPAP NTAPTDPTLRNKQPIPA
Caenorhabditis elegans IITSAQRQWDLNEKKEKVAAVHAT NLSKDQSGAAGGQQQRS
Baker's yeast ------------------------ ---------RGAKPINF
Fission yeast ------------------------ ---------HGIKPIDF
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 – 531 Parafibromin
200 – 531 Interaction with POLR2A and PAF1
260 – 292 Disordered
Loss of parafibromin expression in a subset of parathyroid adenomas.
Juhlin C.; Larsson C.; Yakoleva T.; Leibiger I.; Leibiger B.; Alimov A.; Weber G.; Hoog A.; Villablanca A.;
Endocr. Relat. Cancer 13:509-523(2006)
Cited for: VARIANT SER-272; ASSOCIATION WITH PARATHYROID ADENOMA;
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