Cosmic » Mutation » Overview » MADCAM1 »p.G370W / c.1108G>T

This tab shows an overview of the mutation data [more details]
Gene Name:
MADCAM1
Mutation Id:
COSM227142
AA Mutation:
p.G370W ( Substitution - Missense )
CDS Mutation:
c.1108G>T ( Substitution )
GRCh37:
Ensembl Contig View 19:504919..504929
Cancer Genome Browser:
COSMIC GBrowse 19:504919..504929
CDD:
NP_570118.1
Ever confirmed somatic:
No
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
Q13477 PTHR14162:SF0 PTHR14162:SF0 2 377 Overlap 100.00
MADCAM1 MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW 60 Q13477 MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW 60 MADCAM1 RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV 120 Q13477 RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV 120 MADCAM1 SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED 180 Q13477 SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED 180 MADCAM1 VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES 240 Q13477 VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES 240 MADCAM1 PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP 300 Q13477 PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP 300 MADCAM1 TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR 360 Q13477 TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR 360 MADCAM1 LLPQVSAWAGLRGTGQVGISPS Q13477 LLPQVSAWAGLRGTGQVGISPS

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Wildtype Residue : G Mutant Position : 370 Mutant label : p.G370W Feature Name :PTHR14162:SF0( 2- 377 )
Q13477 PTHR14162 PTHR14162 2 377 Overlap 100.00
MADCAM1 MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW 60 Q13477 MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW 60 MADCAM1 RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV 120 Q13477 RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV 120 MADCAM1 SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED 180 Q13477 SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED 180 MADCAM1 VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES 240 Q13477 VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES 240 MADCAM1 PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP 300 Q13477 PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP 300 MADCAM1 TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR 360 Q13477 TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR 360 MADCAM1 LLPQVSAWAGLRGTGQVGISPS Q13477 LLPQVSAWAGLRGTGQVGISPS

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Wildtype Residue : G Mutant Position : 370 Mutant label : p.G370W Feature Name :PTHR14162( 2- 377 )
Q13477 UniProt:curator Mucosal addressin cell adhesion molecule 1 19 382 Overlap 100.00
MADCAM1 MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW 60 Q13477 MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW 60 MADCAM1 RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV 120 Q13477 RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV 120 MADCAM1 SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED 180 Q13477 SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED 180 MADCAM1 VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES 240 Q13477 VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES 240 MADCAM1 PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP 300 Q13477 PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP 300 MADCAM1 TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR 360 Q13477 TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR 360 MADCAM1 LLPQVSAWAGLRGTGQVGISPS Q13477 LLPQVSAWAGLRGTGQVGISPS

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Wildtype Residue : G Mutant Position : 370 Mutant label : p.G370W Feature Name :Mucosal addressin cell adhesion molecule 1( 19- 382 )
Q13477 UniProt:curator Cytoplasmic 339 382 Overlap 100.00
MADCAM1 MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW 60 Q13477 MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQW 60 MADCAM1 RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV 120 Q13477 RGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQHTVQLLVYAFPDQLTV 120 MADCAM1 SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED 180 Q13477 SPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDED 180 MADCAM1 VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES 240 Q13477 VLFRVTERWRLPPLGTPVPPALYCQATMRLPGLELSHRQAIPVLHSPTSPEPPDTTSPES 240 MADCAM1 PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP 300 Q13477 PDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGP 300 MADCAM1 TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR 360 Q13477 TQGEVIPTGSSKPAGDQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLR 360 MADCAM1 LLPQVSAWAGLRGTGQVGISPS Q13477 LLPQVSAWAGLRGTGQVGISPS

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Wildtype Residue : G Mutant Position : 370 Mutant label : p.G370W Feature Name :Cytoplasmic( 339- 382 )
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed