Variant position: 34 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 QKKEIVVK---GD------EVIFGEF-SWP KNVKTNYVVWGTGKEGQPR-EY
Mouse QKKEIVVK---GD------EVIFGEF-SWP KNVKTNYVVWG
Rat QKKEIVVK---GD------EVIFGEF-SWP KNVKTNYVVWG
Chicken QKKEIVVK---GD------EVIFGEF-SWP KNVKTNYVIWG
Caenorhabditis elegans RPEEFPLR---EVTVSGISYVAFGDY-AYK KDTETSLQIYG
Baker's yeast NGDKLVLKNNEGQSTDDITKATMVETLSSD GSTQDSFPLNE
Fission yeast EKKDVKLLAS-SEATSKVEKIEDAQYILFD ENTSPILIDEP
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
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;
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