Cosmic » Mutation » Overview » PTCRA » p.V52D / c.155T>A
Overview
This tab shows an overview of the mutation data [more details]
- Description:
- Mutation id:
- AA Mutation:
- CDS Mutation:
- NCBI 36:
- GRCH 37:
- Cancer Genome Browser:
- CDD:
- Homologene:
- Ever confirmed somatic:
- PTCRA
- COSM72333
- p.V52D ( Substitution - Missense )
- c.155T>A ( Substitution )
- Ensembl Contig View: 6: 42998839..42998839
- Ensembl Contig View: 6: 42890861..42890861
- COSMIC GBrowse: 6: 42890861..42890861
- NP_612153.2
- 22621 , click here to look the multiple sequence alignment.
- Yes
Tissue Distribution
This tab displays the distribution of mutated samples and tissue types.
[more details]
Samples
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.
[more details]
| Sample name | Gene Name | Transcript | Primary Tissue | Histology | Pubmed Id | Zygosity | Somatic Status |
|---|
Protein features
This tab displays a table of protein features
[more details]
| View | Identifier | Source | Feature | Start | End | Status | Score |
|---|---|---|---|---|---|---|---|
| Q6ISU1 | SSF48726 | SSF48726 | 20 | 108 | Overlap | 100.00 | |
|
PTCRA MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
Q6ISU1 MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
PTCRA IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
Q6ISU1 IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
PTCRA QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
Q6ISU1 QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
PTCRA SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
Q6ISU1 SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
PTCRA SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
Q6ISU1 SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
More detailsWildtype Residue : V Mutant Position : 52 Mutant label : p.V52D Feature Name :SSF48726( 20- 108 ) | |||||||
| Q6ISU1 | UniProt:curator | Pre T-cell antigen receptor alpha | 24 | 281 | Overlap | 100.00 | |
|
PTCRA MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
Q6ISU1 MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
PTCRA IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
Q6ISU1 IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
PTCRA QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
Q6ISU1 QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
PTCRA SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
Q6ISU1 SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
PTCRA SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
Q6ISU1 SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
More detailsWildtype Residue : V Mutant Position : 52 Mutant label : p.V52D Feature Name :Pre T-cell antigen receptor alpha( 24- 281 ) | |||||||
| Q6ISU1 | UniProt:curator | Extracellular | 24 | 146 | Overlap | 100.00 | |
|
PTCRA MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
Q6ISU1 MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
PTCRA IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
Q6ISU1 IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
PTCRA QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
Q6ISU1 QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
PTCRA SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
Q6ISU1 SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
PTCRA SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
Q6ISU1 SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
More detailsWildtype Residue : V Mutant Position : 52 Mutant label : p.V52D Feature Name :Extracellular( 24- 146 ) | |||||||
| Q6ISU1 | PubMed:20944746 | UNIPROTKB_Q6ISU1_DISULFID_47_107 | 47 | 107 | Overlap | 100.00 | |
|
PTCRA MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
Q6ISU1 MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
PTCRA IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
Q6ISU1 IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
PTCRA QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
Q6ISU1 QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
PTCRA SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
Q6ISU1 SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
PTCRA SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
Q6ISU1 SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
More detailsWildtype Residue : V Mutant Position : 52 Mutant label : p.V52D Feature Name :UNIPROTKB_Q6ISU1_DISULFID_47_107( 47- 107 ) | |||||||
| Q6ISU1 | UniProt:curator | UNIPROTKB_Q6ISU1_VAR_SEQ_20_126 | 20 | 126 | Overlap | 100.00 | |
|
PTCRA MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
Q6ISU1 MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
PTCRA IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
Q6ISU1 IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
PTCRA QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
Q6ISU1 QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
PTCRA SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
Q6ISU1 SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
PTCRA SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
Q6ISU1 SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
More detailsWildtype Residue : V Mutant Position : 52 Mutant label : p.V52D Feature Name :UNIPROTKB_Q6ISU1_VAR_SEQ_20_126( 20- 126 ) | |||||||
| Q6ISU1 | UniProt:curator | UNIPROTKB_Q6ISU1_VAR_SEQ_21_59 | 21 | 59 | Overlap | 100.00 | |
|
PTCRA MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
Q6ISU1 MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP 60
PTCRA IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
Q6ISU1 IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST 120
PTCRA QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
Q6ISU1 QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP 180
PTCRA SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
Q6ISU1 SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL 240
PTCRA SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
Q6ISU1 SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
More detailsWildtype Residue : V Mutant Position : 52 Mutant label : p.V52D Feature Name :UNIPROTKB_Q6ISU1_VAR_SEQ_21_59( 21- 59 ) | |||||||
Pathways Affected
This tab displays a table of pathways affected by the mutation
[more details]
| Source | Pathways |
|---|---|
| Reactome | |
| WikiPathway | Notch Signaling Pathway |
References
This tab displays a table of references for the mutation
[more details]
| Reference Title | Author | Year | Journal | Status | COSMIC | Pubmed |
|---|