Variant position: 115 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 213 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 PQPYPTLPPGTGRRIHSYRG HLWLFRDAGTHDG--LLVNQTEL
Mouse PQPYPILPPGTGRRIHSYRG HLWLFRDAGTHDG--LLVNQT
Rat PQPYPTLPPGTGRRIHSYRG HLWLFRDAGTHDG--LLVNQT
Caenorhabditis elegans PTKYGTLAQKKYLDIKTFKD HPWVARR--SFDGCKVLVNEK
Drosophila ENMYLTLKPFEEVRVNTFTT HSWLFRD--YYTGERMHVRSQ
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 – 213 von Hippel-Lindau disease tumor suppressor
100 – 155 Involved in binding to CCT complex
114 – 154 Missing. In isoform 2.
98 – 98 Y -> N. No interaction with HIF1A. No HIF1A degradation.
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
Olschwang S.; Richard S.; Boisson C.; Giraud S.; Laurent-Puig P.; Resche F.; Thomas G.;
Hum. Mutat. 12:424-430(1998)
Cited for: VARIANTS VHLD LYS-52; LEU-65; LYS-70; ASN-80; ARG-80; SER-86; SER-88; LEU-91; ALA-104; PRO-105; GLN-115; CYS-117; PRO-118; LEU-130; LYS-131; SER-136; ASP-156; CYS-156; ILE-157; PRO-158; GLN-161; TRP-162; PHE-166; GLN-167; TRP-167; GLY-170; PRO-188 AND TRP-200;
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.