Mutation Overview - TLK1 - p.Y348C(Substitution - Missense)

Cosmic » Mutation » Overview » TLK1 » p.Y348C / c.1043A>G

Overview

This tab shows an overview of the mutation data [more details]
  • Description:
  • Mutation id:
  • AA Mutation:
  • CDS Mutation:
  • GRCH 37:
  • Cancer Genome Browser:
  • Ever confirmed somatic:

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
A8K8Z3 Pfam-B_3193 Pfam-B_3193 47 441 Overlap 99.72
TLK1 ................................................MDELHSLDPRRQ 60 A8K8Z3 MSVQSSSGSLEGPPSWSQLSTSPTPGSAAAARSLLNHTPPSGRPREGAMDELHSLDPRRQ 60 TLK1 ELLEARFTGVASGSTGSTGSCSVGAKATTNNESSNHSFGSLGSLSDKESETPEKKQSESS 120 A8K8Z3 ELLEARFTGVASGSTGSTGSCSVGAKASTNNESSNHSFGSLGSLSDKESETPEKKQSESS 120 TLK1 RGRKRKAENQNESSQGKSIGGRGHKISDYFEYQGGNGSSPVRGIPPAIRSPQNSHSHSTP 180 A8K8Z3 RGRKRKAENQNESSQGKSIGGRGHKISDYFEYQGGNGSSPVRGIPPAIRSPQNSHSHSTP 180 TLK1 SSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRID 240 A8K8Z3 SSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRID 240 TLK1 DLLRANCDLRRQIDEQQKLLEKYKERLNKCISMSKKLLIEKSTQEKLSSREKSMQDRLRL 300 A8K8Z3 DLLRANCDLRRQIDEQQKLLEKYKERLNKCISMGKKLLIEKSTQEKLSSREKSMQDRLRL 300 TLK1 GHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAP 360 A8K8Z3 GHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAP 360 TLK1 STNSEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAE 420 A8K8Z3 STNSEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAE 420 TLK1 LERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFSEVYKAFDLYEQR 480 A8K8Z3 LERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFSEVYKAFDLYEQR 480 TLK1 YAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEY 540 A8K8Z3 YAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEY 540 TLK1 CEGNDLDFYLKQHKLMSEKEARSIVMQIVNALRYLNEIKPPIIHYDLKPGNILLVDGTAC 600 A8K8Z3 CEGNDLDFYLKQHKLMSEKEARSIVMQIVNALRYLNEIKPPIIHYDLKPGNILLVDGTAC 600 TLK1 GEIKITDFGLSKIMDDDSYGVDGMDLTSQGAGTYWYLPPECFVVGKEPPKISNKVDVWSV 660 A8K8Z3 GEIKITDFGLSKIMDDDSYGVDGMDLTSQGAGTYWYLPPECFVVGKEPPKISNKVDVWSV 660 TLK1 GVIFFQCLYGRKPFGHNQSQQDILQENTILKATEVQFPVKPVVSSEAKAFIRRCLAYRKE 720 A8K8Z3 GVIFFQCLYGRKPFGHNQSQQDILQENTILKATEVQFPVKPVVSSEAKAFIRRCLAYRKE 720 TLK1 DRFDVHQLANDPYLLPHMRRSNSSGNLHMAGLTASPTPPSSSIITY A8K8Z3 DRFDVHQLANDPYLLPHMRRSNSSGNLHMAGLTASPTPPSSSIITY

More details

Wildtype Residue : Y Mutant Position : 396 Mutant label : p.Y348C Feature Name :Pfam-B_3193( 47- 441 )
A8K8Z3 PTHR22974:SF1 PTHR22974:SF1 1 762 Overlap 99.72
TLK1 ................................................MDELHSLDPRRQ 60 A8K8Z3 MSVQSSSGSLEGPPSWSQLSTSPTPGSAAAARSLLNHTPPSGRPREGAMDELHSLDPRRQ 60 TLK1 ELLEARFTGVASGSTGSTGSCSVGAKATTNNESSNHSFGSLGSLSDKESETPEKKQSESS 120 A8K8Z3 ELLEARFTGVASGSTGSTGSCSVGAKASTNNESSNHSFGSLGSLSDKESETPEKKQSESS 120 TLK1 RGRKRKAENQNESSQGKSIGGRGHKISDYFEYQGGNGSSPVRGIPPAIRSPQNSHSHSTP 180 A8K8Z3 RGRKRKAENQNESSQGKSIGGRGHKISDYFEYQGGNGSSPVRGIPPAIRSPQNSHSHSTP 180 TLK1 SSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRID 240 A8K8Z3 SSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRID 240 TLK1 DLLRANCDLRRQIDEQQKLLEKYKERLNKCISMSKKLLIEKSTQEKLSSREKSMQDRLRL 300 A8K8Z3 DLLRANCDLRRQIDEQQKLLEKYKERLNKCISMGKKLLIEKSTQEKLSSREKSMQDRLRL 300 TLK1 GHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAP 360 A8K8Z3 GHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAP 360 TLK1 STNSEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAE 420 A8K8Z3 STNSEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAE 420 TLK1 LERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFSEVYKAFDLYEQR 480 A8K8Z3 LERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFSEVYKAFDLYEQR 480 TLK1 YAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEY 540 A8K8Z3 YAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEY 540 TLK1 CEGNDLDFYLKQHKLMSEKEARSIVMQIVNALRYLNEIKPPIIHYDLKPGNILLVDGTAC 600 A8K8Z3 CEGNDLDFYLKQHKLMSEKEARSIVMQIVNALRYLNEIKPPIIHYDLKPGNILLVDGTAC 600 TLK1 GEIKITDFGLSKIMDDDSYGVDGMDLTSQGAGTYWYLPPECFVVGKEPPKISNKVDVWSV 660 A8K8Z3 GEIKITDFGLSKIMDDDSYGVDGMDLTSQGAGTYWYLPPECFVVGKEPPKISNKVDVWSV 660 TLK1 GVIFFQCLYGRKPFGHNQSQQDILQENTILKATEVQFPVKPVVSSEAKAFIRRCLAYRKE 720 A8K8Z3 GVIFFQCLYGRKPFGHNQSQQDILQENTILKATEVQFPVKPVVSSEAKAFIRRCLAYRKE 720 TLK1 DRFDVHQLANDPYLLPHMRRSNSSGNLHMAGLTASPTPPSSSIITY A8K8Z3 DRFDVHQLANDPYLLPHMRRSNSSGNLHMAGLTASPTPPSSSIITY

More details

Wildtype Residue : Y Mutant Position : 396 Mutant label : p.Y348C Feature Name :PTHR22974:SF1( 1- 762 )
A8K8Z3 PTHR22974 PTHR22974 1 762 Overlap 99.72
TLK1 ................................................MDELHSLDPRRQ 60 A8K8Z3 MSVQSSSGSLEGPPSWSQLSTSPTPGSAAAARSLLNHTPPSGRPREGAMDELHSLDPRRQ 60 TLK1 ELLEARFTGVASGSTGSTGSCSVGAKATTNNESSNHSFGSLGSLSDKESETPEKKQSESS 120 A8K8Z3 ELLEARFTGVASGSTGSTGSCSVGAKASTNNESSNHSFGSLGSLSDKESETPEKKQSESS 120 TLK1 RGRKRKAENQNESSQGKSIGGRGHKISDYFEYQGGNGSSPVRGIPPAIRSPQNSHSHSTP 180 A8K8Z3 RGRKRKAENQNESSQGKSIGGRGHKISDYFEYQGGNGSSPVRGIPPAIRSPQNSHSHSTP 180 TLK1 SSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRID 240 A8K8Z3 SSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRID 240 TLK1 DLLRANCDLRRQIDEQQKLLEKYKERLNKCISMSKKLLIEKSTQEKLSSREKSMQDRLRL 300 A8K8Z3 DLLRANCDLRRQIDEQQKLLEKYKERLNKCISMGKKLLIEKSTQEKLSSREKSMQDRLRL 300 TLK1 GHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAP 360 A8K8Z3 GHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAP 360 TLK1 STNSEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAE 420 A8K8Z3 STNSEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAE 420 TLK1 LERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFSEVYKAFDLYEQR 480 A8K8Z3 LERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFSEVYKAFDLYEQR 480 TLK1 YAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEY 540 A8K8Z3 YAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEY 540 TLK1 CEGNDLDFYLKQHKLMSEKEARSIVMQIVNALRYLNEIKPPIIHYDLKPGNILLVDGTAC 600 A8K8Z3 CEGNDLDFYLKQHKLMSEKEARSIVMQIVNALRYLNEIKPPIIHYDLKPGNILLVDGTAC 600 TLK1 GEIKITDFGLSKIMDDDSYGVDGMDLTSQGAGTYWYLPPECFVVGKEPPKISNKVDVWSV 660 A8K8Z3 GEIKITDFGLSKIMDDDSYGVDGMDLTSQGAGTYWYLPPECFVVGKEPPKISNKVDVWSV 660 TLK1 GVIFFQCLYGRKPFGHNQSQQDILQENTILKATEVQFPVKPVVSSEAKAFIRRCLAYRKE 720 A8K8Z3 GVIFFQCLYGRKPFGHNQSQQDILQENTILKATEVQFPVKPVVSSEAKAFIRRCLAYRKE 720 TLK1 DRFDVHQLANDPYLLPHMRRSNSSGNLHMAGLTASPTPPSSSIITY A8K8Z3 DRFDVHQLANDPYLLPHMRRSNSSGNLHMAGLTASPTPPSSSIITY

More details

Wildtype Residue : Y Mutant Position : 396 Mutant label : p.Y348C Feature Name :PTHR22974( 1- 762 )

Pathways Affected

This tab displays a table of pathways affected by the mutation [more details]
Source Pathways
Reactome
WikiPathway DNA damage response
WikiPathway DNA damage response

References

This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed