Variant position: 292 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 NAAPVDPTLRTKQPIPAAYN RYDQERFKGKEETEGFKIDTM
Mouse NAAPVDPTLRTKQPIPAAYN RYDQERFKGKEETEGFKIDTM
Rat NAAPVDPTLRTKQPIPAAYN RYDQERFKGKEETEGFKIDTM
Chicken NTAPTDPTLRNKQPIPAAYN RYDQERFKGKEETEGFKIDTM
Caenorhabditis elegans NLSKDQSGAAGGQQQRSGYS RYAQEAFAHEKTKE---IQTE
Baker's yeast ---------RGAKPINFGYL IKDAELKLV--------QSIK
Fission yeast ---------HGIKPIDFISL RKDVLDYIH------------
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
301 – 301 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
308 – 308 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene.
Zhao J.; Yart A.; Frigerio S.; Perren A.; Schraml P.; Weisstanner C.; Stallmach T.; Krek W.; Moch H.;
Cited for: VARIANTS GLN-34 AND LYS-292; CHARACTERIZATION OF VARIANT GLN-34; ASSOCIATION WITH RENAL TUMORS;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.