Variant position: 114 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 EPQPYPTLPPGTGRRIHSYR GHLWLFRDAGTHDG--LLVNQTE
Mouse EPQPYPILPPGTGRRIHSYR GHLWLFRDAGTHDG--LLVNQ
Rat EPQPYPTLPPGTGRRIHSYR GHLWLFRDAGTHDG--LLVNQ
Caenorhabditis elegans QPTKYGTLAQKKYLDIKTFK DHPWVARR--SFDGCKVLVNE
Drosophila RENMYLTLKPFEEVRVNTFT THSWLFRD--YYTGERMHVRS
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.
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
Eng C.; Crossey P.A.; Mulligan L.M.; Healey C.S.; Houghton C.; Prowse A.; Chew S.L.; Dahia P.L.M.; O'Riordan J.L.H.; Toledo S.P.A.; Smith D.P.; Maher E.R.; Ponder B.A.J.;
J. Med. Genet. 32:934-937(1995)
Cited for: VARIANTS VHLD SER-114; SER-119; GLU-143 AND ARG-164;
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.