Mutation Overview - OR1E2 - p.H168D(Substitution - Missense)

Cosmic » Mutation » Overview » OR1E2 » p.H168D / c.502C>G

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:
  • 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
PF13853 Pfam 7tm_4:148-292 148 292 Overlap 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :7tm_4:148-292( 148- 292 )
P47887 UniProt disulfide:97-198 97 198 Overlap 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :disulfide:97-198( 97- 198 )
P47887 G3DSA:1.20.1070.10 G3DSA:1.20.1070.10 2 318 Overlap 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :G3DSA:1.20.1070.10( 2- 318 )
P47887 7tm_4 7tm_4 149 292 Overlap 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :7tm_4( 149- 292 )
P47887 G_PROTEIN_RECEP_F1_2 G_PROTEIN_RECEP_F1_2 41 299 Overlap 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :G_PROTEIN_RECEP_F1_2( 41- 299 )
P47887 SSF81321 SSF81321 134 320 Overlap 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :SSF81321( 134- 320 )
P47887 UniProt:curator Olfactory receptor 1E2 1 323 Overlap 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :Olfactory receptor 1E2( 1- 323 )
P47887 UniProt:curator UNIPROTKB_P47887_DISULFID_97_198 97 198 Overlap 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :UNIPROTKB_P47887_DISULFID_97_198( 97- 198 )
P47887 PubMed:16959974 UNIPROTKB_P47887_VARIANT_168_168 168 168 Proximity 100.00
OR1E2 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 P47887 MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPVY 60 OR1E2 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 P47887 LFLSNLSFSDLCFSSVTMPKLLQNMQNQDPSIPYADCLTQMYFFLYFSDLESFLLVAMAY 120 OR1E2 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 P47887 DRYVAICFPMHYTAICFLLHYTAIMSPMLCLSVVALSWVLTTFHAMLHTLLMARLCFCAD 180 OR1E2 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 P47887 NVIPHFFCDMSALLKLACSDTRVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSS 240 OR1E2 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 P47887 KGICKAFSTCGSHLSVVSLFYGTVIGLYLCPSANSSTLKDTVMAMMYTVVTPMLTPFIYS 300 OR1E2 LRNRDMKGALERVICKRKNPFLL P47887 LRNRDMKGALERVICKRKNPFLL

More details

Wildtype Residue : H Mutant Position : 168 Mutant label : p.H168D Feature Name :UNIPROTKB_P47887_VARIANT_168_168( 168- 168 )

Pathways Affected

This tab displays a table of pathways affected by the mutation [more details]
Source Pathways
Reactome Signaling by GPCR
WikiPathway GPCRs, Class A Rhodopsin-like

References

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