Variant position: 112 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 DGEPQPYPTLPPGTGRRIHS YRGHLWLFRDAGTHDG--LLVNQ
Mouse DGEPQPYPILPPGTGRRIHS YRGHLWLFRDAGTHDG--LLV
Rat DGEPQPYPTLPPGTGRRIHS YRGHLWLFRDAGTHDG--LLV
Caenorhabditis elegans SKQPTKYGTLAQKKYLDIKT FKDHPWVARR--SFDGCKVLV
Drosophila RERENMYLTLKPFEEVRVNT FTTHSWLFRD--YYTGERMHV
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
98 – 98 Y -> N. No interaction with HIF1A. No HIF1A degradation.
105 – 112
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
Bradley J.F.; Collins D.L.; Schimke R.N.; Parrott H.N.; Rothberg P.G.;
Am. J. Med. Genet. 87:163-167(1999)
Cited for: VARIANT VHLD ASN-112;
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