Cosmic » Mutation » Overview » VHL »p.L101L / c.301C>T
This tab shows an overview of the mutation data
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This tab displays the distribution of mutated samples and tissue types.
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This tab displays a table of muated samples, with tissue, histology and zygosity information.
Publication information is also included, where available, with links to PUBMED.
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| Sample name | Gene name | Transcript | Primary Tissue | Histology | Pubmed ID | Zygosity | Somatic Status |
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This tab displays a table of protein features
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| View | Identifier | Source | Feature | Start | End | Status | Score |
|---|---|---|---|---|---|---|---|
| PF01847 | Pfam | VHL:58-213 | 58 | 213 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :VHL:58-213( 58- 213 ) | |||||||
| P40337 | G3DSA:2.60.40.780 | G3DSA:2.60.40.780 | 63 | 152 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :G3DSA:2.60.40.780( 63- 152 ) | |||||||
| P40337 | Pfam-B_19918 | Pfam-B_19918 | 15 | 149 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :Pfam-B_19918( 15- 149 ) | |||||||
| P40337 | PD035809 | PD035809 | 68 | 209 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :PD035809( 68- 209 ) | |||||||
| P40337 | VHL | VHL | 58 | 213 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :VHL( 58- 213 ) | |||||||
| P40337 | PTHR15160:SF0 | PTHR15160:SF0 | 4 | 213 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :PTHR15160:SF0( 4- 213 ) | |||||||
| P40337 | PTHR15160 | PTHR15160 | 4 | 213 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :PTHR15160( 4- 213 ) | |||||||
| P40337 | SSF49468 | SSF49468 | 60 | 209 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :SSF49468( 60- 209 ) | |||||||
| P40337 | UniProt:curator | Von Hippel-Lindau disease tumor suppressor | 1 | 213 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :Von Hippel-Lindau disease tumor suppressor( 1- 213 ) | |||||||
| P40337 | UniProt:curator | Involved in binding to CCT complex | 100 | 155 | Overlap | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :Involved in binding to CCT complex( 100- 155 ) | |||||||
| P40337 | PubMed:12000816 | UNIPROTKB_P40337_VARIANT_98_98 | 98 | 98 | Proximity | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :UNIPROTKB_P40337_VARIANT_98_98( 98- 98 ) | |||||||
| P40337 | PubMed:9829911 | UNIPROTKB_P40337_VARIANT_101_101 | 101 | 101 | Proximity | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :UNIPROTKB_P40337_VARIANT_101_101( 101- 101 ) | |||||||
| P40337 | PubMed:8956040 | UNIPROTKB_P40337_VARIANT_101_101 | 101 | 101 | Proximity | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :UNIPROTKB_P40337_VARIANT_101_101( 101- 101 ) | |||||||
| P40337 | PubMed:9829912 | UNIPROTKB_P40337_VARIANT_104_104 | 104 | 104 | Proximity | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :UNIPROTKB_P40337_VARIANT_104_104( 104- 104 ) | |||||||
| P40337 | PubMed:9829912 | UNIPROTKB_P40337_VARIANT_105_105 | 105 | 105 | Proximity | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :UNIPROTKB_P40337_VARIANT_105_105( 105- 105 ) | |||||||
| P40337 | PubMed:10944113 | UNIPROTKB_P40337_MUTAGEN_98_98 | 98 | 98 | Proximity | 100.00 | |
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VHL MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
P40337 MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPR 60
VHL PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
P40337 PVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFR 120
VHL DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
P40337 DAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDI 180
VHL VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
P40337 VRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD
More detailsWildtype Residue : L Mutant Position : 101 Mutant label : p.L101L Feature Name :UNIPROTKB_P40337_MUTAGEN_98_98( 98- 98 ) | |||||||
This tab displays a table of references for the mutation
[more details]
| Reference Title | Author | Year | Journal | Status | COSMIC | Pubmed |
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