Mutation Overview - RPH3A - p.L656L(Substitution - coding silent)

Cosmic » Mutation » Overview » RPH3A » p.L656L / c.1966C>T

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:
  • 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
B7Z9Z7 G3DSA:2.60.40.150 G3DSA:2.60.40.150 540 686 Overlap 99.71
RPH3A MTDTVFSNSSNRWMYPSDRPLQS....KLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 B7Z9Z7 MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 RPH3A VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKK 120 B7Z9Z7 VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGKQLGMLGSACVVCEDCKK 120 RPH3A NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 B7Z9Z7 NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 RPH3A VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 B7Z9Z7 VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 RPH3A MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 B7Z9Z7 MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 RPH3A RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 B7Z9Z7 RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 RPH3A AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 B7Z9Z7 AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 RPH3A PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 B7Z9Z7 PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 RPH3A SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 B7Z9Z7 SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 RPH3A QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 B7Z9Z7 QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 RPH3A KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 B7Z9Z7 KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 RPH3A KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD B7Z9Z7 KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD

More details

Wildtype Residue : L Mutant Position : 660 Mutant label : p.L656L Feature Name :G3DSA:2.60.40.150( 540- 686 )
B7Z9Z7 PTHR10024:SF118 PTHR10024:SF118 36 694 Overlap 99.71
RPH3A MTDTVFSNSSNRWMYPSDRPLQS....KLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 B7Z9Z7 MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 RPH3A VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKK 120 B7Z9Z7 VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGKQLGMLGSACVVCEDCKK 120 RPH3A NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 B7Z9Z7 NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 RPH3A VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 B7Z9Z7 VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 RPH3A MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 B7Z9Z7 MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 RPH3A RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 B7Z9Z7 RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 RPH3A AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 B7Z9Z7 AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 RPH3A PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 B7Z9Z7 PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 RPH3A SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 B7Z9Z7 SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 RPH3A QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 B7Z9Z7 QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 RPH3A KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 B7Z9Z7 KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 RPH3A KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD B7Z9Z7 KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD

More details

Wildtype Residue : L Mutant Position : 660 Mutant label : p.L656L Feature Name :PTHR10024:SF118( 36- 694 )
B7Z9Z7 PTHR10024 PTHR10024 36 694 Overlap 99.71
RPH3A MTDTVFSNSSNRWMYPSDRPLQS....KLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 B7Z9Z7 MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 RPH3A VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKK 120 B7Z9Z7 VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGKQLGMLGSACVVCEDCKK 120 RPH3A NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 B7Z9Z7 NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 RPH3A VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 B7Z9Z7 VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 RPH3A MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 B7Z9Z7 MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 RPH3A RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 B7Z9Z7 RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 RPH3A AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 B7Z9Z7 AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 RPH3A PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 B7Z9Z7 PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 RPH3A SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 B7Z9Z7 SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 RPH3A QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 B7Z9Z7 QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 RPH3A KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 B7Z9Z7 KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 RPH3A KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD B7Z9Z7 KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD

More details

Wildtype Residue : L Mutant Position : 660 Mutant label : p.L656L Feature Name :PTHR10024( 36- 694 )
B7Z9Z7 C2 C2 566 680 Overlap 99.71
RPH3A MTDTVFSNSSNRWMYPSDRPLQS....KLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 B7Z9Z7 MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 RPH3A VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKK 120 B7Z9Z7 VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGKQLGMLGSACVVCEDCKK 120 RPH3A NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 B7Z9Z7 NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 RPH3A VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 B7Z9Z7 VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 RPH3A MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 B7Z9Z7 MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 RPH3A RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 B7Z9Z7 RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 RPH3A AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 B7Z9Z7 AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 RPH3A PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 B7Z9Z7 PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 RPH3A SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 B7Z9Z7 SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 RPH3A QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 B7Z9Z7 QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 RPH3A KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 B7Z9Z7 KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 RPH3A KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD B7Z9Z7 KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD

More details

Wildtype Residue : L Mutant Position : 660 Mutant label : p.L656L Feature Name :C2( 566- 680 )
B7Z9Z7 C2_CaLB C2_CaLB 551 690 Overlap 99.71
RPH3A MTDTVFSNSSNRWMYPSDRPLQS....KLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 B7Z9Z7 MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINR 60 RPH3A VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKK 120 B7Z9Z7 VIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGKQLGMLGSACVVCEDCKK 120 RPH3A NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 B7Z9Z7 NVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQP 180 RPH3A VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 B7Z9Z7 VSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEAR 240 RPH3A MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 B7Z9Z7 MSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGS 300 RPH3A RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 B7Z9Z7 RPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQAS 360 RPH3A AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 B7Z9Z7 AAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK 420 RPH3A PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 B7Z9Z7 PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRI 480 RPH3A SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 B7Z9Z7 SVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEE 540 RPH3A QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 B7Z9Z7 QVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGK 600 RPH3A KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 B7Z9Z7 KAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISA 660 RPH3A KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD B7Z9Z7 KGERLKHWYECLKNKDKKIERWHQLQNENHVSSD

More details

Wildtype Residue : L Mutant Position : 660 Mutant label : p.L656L Feature Name :C2_CaLB( 551- 690 )

References

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