Variant position: 166 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 PIFAN---ITLPVYTLKERCLQV V-----RSLVKPENY-RRLDIVRSLYE
Mouse PIFAN---ITLPVYTLKERCLQV V-----RSLVKPENY-RR
Rat PIFAN---ITLPVYTLKERCLQV V-----RSLVKPENY-RR
Caenorhabditis elegans LIVRNHCVITMKVQSLREIAGRS FLRH--NPTEVPNKI-KG
Drosophila VDVRSEVLIHFPMRSLRENCLWL VARWLIRTSNAPRRIIHG
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
157 – 166 Interaction with Elongin BC complex
158 – 169
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
Maher E.R.; Webster A.R.; Richards F.M.; Green J.S.; Crossey P.A.; Payne S.J.; Moore A.T.;
J. Med. Genet. 33:328-332(1996)
Cited for: VARIANTS VHLD PRO-96; VAL-116; ARG-118; PHE-166; ASP-170 AND GLU-186 DEL;
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.