Cosmic » Mutation » Overview » MEST »p.R56H / c.167G>A

This tab shows an overview of the mutation data [more details]
Gene Name:
MEST
Mutation Id:
COSM174888
AA Mutation:
p.R56H ( Substitution - Missense )
CDS Mutation:
c.167G>A ( Substitution )
GRCh37:
Ensembl Contig View 7:130135344..130135354
Cancer Genome Browser:
COSMIC GBrowse 7:130135344..130135354
CDD:
NP_803491.1
Ever confirmed somatic:
Yes
This tab displays the distribution of mutated samples and tissue types. [more details]
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
This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
Q5EB52 G3DSA:3.40.50.1820 G3DSA:3.40.50.1820 38 333 Overlap 100.00
MEST MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 Q5EB52 MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 MEST DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 Q5EB52 DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 MEST FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 Q5EB52 FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 MEST FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 Q5EB52 FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 MEST NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 Q5EB52 NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 MEST PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF Q5EB52 PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF

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Wildtype Residue : R Mutant Position : 56 Mutant label : p.R56H Feature Name :G3DSA:3.40.50.1820( 38- 333 )
Q5EB52 PTHR10992:SF25 PTHR10992:SF25 3 335 Overlap 100.00
MEST MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 Q5EB52 MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 MEST DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 Q5EB52 DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 MEST FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 Q5EB52 FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 MEST FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 Q5EB52 FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 MEST NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 Q5EB52 NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 MEST PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF Q5EB52 PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF

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Wildtype Residue : R Mutant Position : 56 Mutant label : p.R56H Feature Name :PTHR10992:SF25( 3- 335 )
Q5EB52 PTHR10992 PTHR10992 3 335 Overlap 100.00
MEST MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 Q5EB52 MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 MEST DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 Q5EB52 DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 MEST FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 Q5EB52 FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 MEST FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 Q5EB52 FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 MEST NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 Q5EB52 NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 MEST PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF Q5EB52 PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF

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Wildtype Residue : R Mutant Position : 56 Mutant label : p.R56H Feature Name :PTHR10992( 3- 335 )
Q5EB52 SSF53474 SSF53474 48 335 Overlap 100.00
MEST MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 Q5EB52 MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 MEST DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 Q5EB52 DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 MEST FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 Q5EB52 FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 MEST FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 Q5EB52 FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 MEST NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 Q5EB52 NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 MEST PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF Q5EB52 PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF

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Wildtype Residue : R Mutant Position : 56 Mutant label : p.R56H Feature Name :SSF53474( 48- 335 )
Q5EB52 UniProt:curator Mesoderm-specific transcript homolog protein 1 335 Overlap 100.00
MEST MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 Q5EB52 MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQ 60 MEST DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 Q5EB52 DSVGVVGSPEIVVLLHGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSI 120 MEST FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 Q5EB52 FEQASIVEALLRHLGLQNRRINLLSHDYGDIVAQELLYRYKQNRSGRLTIKSLCLSNGGI 180 MEST FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 Q5EB52 FPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYTRPSESELWDMWAGIR 240 MEST NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 Q5EB52 NNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL 300 MEST PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF Q5EB52 PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF

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Wildtype Residue : R Mutant Position : 56 Mutant label : p.R56H Feature Name :Mesoderm-specific transcript homolog protein( 1- 335 )
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed