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UniProtKB/Swiss-Prot P40337: Variant p.Cys162Arg

von Hippel-Lindau disease tumor suppressor
Gene: VHL
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Variant information Variant position: help 162
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Arginine (R) at position 162 (C162R, p.Cys162Arg).
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In VHLD; type I.
Other resources: help


Sequence information Variant position: help 162
Protein sequence length: help 213
Location on the sequence: help VDGQPIFANITLPVYTLKER C LQVVRSLVKPENYRRLDIVR
Residue conservation: help 
Human                         VDGQPIFAN---ITLPVYTLKERCL-QVVRSLVK--PENYRR-----LDIVR

                              VDGQPIFAN---ITLPVYTLKERCL-QVVRSLVK--PENYR

Mouse                         VDGQPIFAN---ITLPVYTLKERCL-QVVRSLVK--PENYR

Rat                           VDGQPIFAN---ITLPVYTLKERCL-QVVRSLVK--PENYR

Caenorhabditis elegans        PRMNLIVRNHCVITMKVQSLRE----IAGRSFLRHNPTEVP

Drosophila                    PDQLVDVRSEVLIHFPMRSLRENCLWLVARWLIR--TSNAP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 213 von Hippel-Lindau disease tumor suppressor
Region 157 – 166 Interaction with Elongin BC complex
Helix 158 – 169



Literature citations
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;
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.