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UniProtKB/Swiss-Prot P40337: Variant p.Arg167Trp

von Hippel-Lindau disease tumor suppressor
Gene: VHL
Variant information

Variant position:  167
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Tryptophan (W) at position 167 (R167W, p.Arg167Trp).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In pheochromocytoma and VHLD; type II; common mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  167
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  213
The length of the canonical 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.



Mouse                         IFAN---ITLPVYTLKERCLQVV-----RSLVKPENY-RRL

Rat                           IFAN---ITLPVYTLKERCLQVV-----RSLVKPENY-RRL



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.

Chain 1 – 213 von Hippel-Lindau disease tumor suppressor
Helix 158 – 169

Literature citations

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
Crossey P.A.; Eng C.; Ginalska-Malinowska M.; Lennard T.W.J.; Wheeler D.C.; Ponder B.A.J.; Maher E.R.;
J. Med. Genet. 32:885-886(1995)
Cited for: VARIANTS VHLD LEU-84 AND TRP-167;

Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
Zbar B.; Kishida T.; Chen F.; Schmidt L.; Maher E.R.; Richards F.M.; Crossey P.A.; Webster A.R.; Affara N.A.; Ferguson-Smith M.A.; Brauch H.; Glavac D.; Neumann H.P.H.; Tisherman S.; Mulvihill J.J.; Gross D.J.; Shuin T.; Whaley J.; Seizinger B.; Kley N.; Olschwang S.; Boisson C.; Richard S.; Lips C.H.M.; Linehan W.M.; Lerman M.I.;
Hum. Mutat. 8:348-357(1996)
Cited for: VARIANTS VHLD LEU-65; TRP-65; GLY-74; PHE-76 DEL; ILE-76; HIS-78; SER-78; THR-78; ARG-80; ASN-80; ILE-80; SER-81; ALA-86; LEU-86; ARG-88; SER-88; PRO-89; ARG-101; ARG-111; ASN-111; CYS-114; TYR-115; CYS-117; PRO-118; GLY-121; LEU-130; PRO-158; VAL-158; PRO-161; ARG-162; PHE-162; TYR-162; TRP-162; ARG-164; GLN-167; TRP-167; GLY-170; PRO-178; VAL-180; ARG-184; PRO-184; LYS-186; GLN-188 AND TRP-200;

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;

Germ-line mutations in nonsyndromic pheochromocytoma.
Neumann H.P.H.; Bausch B.; McWhinney S.R.; Bender B.U.; Gimm O.; Franke G.; Schipper J.; Klisch J.; Altehoefer C.; Zerres K.; Januszewicz A.; Smith W.M.; Munk R.; Manz T.; Glaesker S.; Apel T.W.; Treier M.; Reineke M.; Walz M.K.; Hoang-Vu C.; Brauckhoff M.; Klein-Franke A.; Klose P.; Schmidt H.; Maier-Woelfle M.; Peczkowska M.; Szmigielski C.; Eng C.;
N. Engl. J. Med. 346:1459-1466(2002)
Cited for: VARIANTS PHEOCHROMOCYTOMA ALA-65; TRP-68; ASN-80; SER-93; CYS-93; HIS-98; GLY-107; LEU-119; ILE-122; CYS-136; ASN-156; CYS-156; GLN-161; PRO-161; TRP-167; GLN-167; VAL-188 AND GLN-198;

Disclaimer: 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.