Mutation Overview - ADRB3 - p.P92R(Substitution - Missense)

Cosmic » Mutation » Overview » ADRB3 » p.P92R / c.275C>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:
  • CDD:
  • Homologene:
  • 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
PF00001 Pfam 7tm_1:54-346 54 346 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :7tm_1:54-346( 54- 346 )
A8KAG8 Pfam low_complexity:88-100 88 100 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :low_complexity:88-100( 88- 100 )
A8KAG8 G3DSA:1.20.1070.10 G3DSA:1.20.1070.10 34 370 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :G3DSA:1.20.1070.10( 34- 370 )
A8KAG8 7tm_1 7tm_1 54 346 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :7tm_1( 54- 346 )
A8KAG8 GPCRRHODOPSN GPCRRHODOPSN 72 93 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :GPCRRHODOPSN( 72- 93 )
A8KAG8 G_PROTEIN_RECEP_F1_2 G_PROTEIN_RECEP_F1_2 54 346 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :G_PROTEIN_RECEP_F1_2( 54- 346 )
A8KAG8 PTHR24248:SF4 PTHR24248:SF4 1 406 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :PTHR24248:SF4( 1- 406 )
A8KAG8 PTHR24248 PTHR24248 1 406 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :PTHR24248( 1- 406 )
A8KAG8 SSF81321 SSF81321 1 371 Overlap 100.00
ADRB3 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 A8KAG8 MAPWPHENSSLAPWPDLPTLAPNTANTSGLPGVPWEAALAGALLALAVLATVGGNLLVIV 60 ADRB3 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 A8KAG8 AIAWTPRLQTMTNVFVTSLAAADLVMGLLVVPPAATLALTGHWPLGATGCELWTSVDVLC 120 ADRB3 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 A8KAG8 VTASIETLCALAVDRYLAVTNPLRYGALVTKRCARTAVVLVWVVSAAVSFAPIMSQWWRV 180 ADRB3 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 A8KAG8 GADAEAQRCHSNPRCCAFASNMPYVLLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRG 240 ADRB3 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 A8KAG8 ELGRFPPEESPPAPSRSLAPAPVGTCAPPEGVPACGRRPARLLPLREHRALCTLGLIMGT 300 ADRB3 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 A8KAG8 FTLCWLPFFLANVLRALGGPSLVPGPAFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLL 360 ADRB3 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS A8KAG8 CRCGRRLPPEPCAAARPALFPSGVPAARSSPAQPRLCQRLDGASWGVS

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Wildtype Residue : P Mutant Position : 92 Mutant label : p.P92R Feature Name :SSF81321( 1- 371 )

Pathways Affected

This tab displays a table of pathways affected by the mutation [more details]
Source Pathways
Reactome
WikiPathway GPCRs, Class A Rhodopsin-like
WikiPathway Calcium Regulation in the Cardiac Cell
WikiPathway Monoamine GPCRs

References

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