Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 13 transcript(s)...
Querying Taster for transcript #1: ENST00000434900
Querying Taster for transcript #2: ENST00000520708
Querying Taster for transcript #3: ENST00000518759
Querying Taster for transcript #4: ENST00000330432
Querying Taster for transcript #5: ENST00000428397
Querying Taster for transcript #6: ENST00000452687
Querying Taster for transcript #7: ENST00000229768
Querying Taster for transcript #8: ENST00000419506
Querying Taster for transcript #9: ENST00000524163
Querying Taster for transcript #10: ENST00000414028
Querying Taster for transcript #11: ENST00000435918
Querying Taster for transcript #12: ENST00000337049
Querying Taster for transcript #13: ENST00000360422
MT speed 0 s - this script 7.168078 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
OPRM1polymorphism_automatic0.995923847750314simple_aaeaffectedN133Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic0.996951087958688simple_aaeaffectedN40Dsingle base exchangers1799971show file
OPRM1polymorphism_automatic1without_aaeaffectedsingle base exchangers1799971show file
OPRM1polymorphism_automatic1without_aaeaffectedsingle base exchangers1799971show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00407615224968628 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000434900
Genbank transcript ID NM_001145279
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.397A>G
cDNA.915A>G
g.29167A>G
AA changes N133D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 133
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 173
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      133GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    133GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
124145TOPO_DOMExtracellular (Potential).lost
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1482 / 1482
position (AA) of stopcodon in wt / mu AA sequence 494 / 494
position of stopcodon in wt / mu cDNA 2000 / 2000
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 519 / 519
chromosome 6
strand 1
last intron/exon boundary 1962
theoretical NMD boundary in CDS 1393
length of CDS 1482
coding sequence (CDS) position 397
cDNA position
(for ins/del: last normal base / first normal base)		 915
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MCLHRRVPSE ETYSLDRFAQ NPPLFPPPSL PASESRMAHA PLLQRCGAAR TGFCKKQQEL
WQRRKEAAEA LGTRKVSVLL ATSHSGARPA VSTMDSSAAP TNASNCTDAL AYSSCSPAPS
PGSWVNLSHL DGNLSDPCGP NRTDLGGRDS LCPPTGSPSM ITAITIMALY SIVCVVGLFG
NFLVMYVIVR YTKMKTATNI YIFNLALADA LATSTLPFQS VNYLMGTWPF GTILCKIVIS
IDYYNMFTSI FTLCTMSVDR YIAVCHPVKA LDFRTPRNAK IINVCNWILS SAIGLPVMFM
ATTKYRQGSI DCTLTFSHPT WYWENLLKIC VFIFAFIMPV LIITVCYGLM ILRLKSVRML
SGSKEKDRNL RRITRMVLVV VAVFIVCWTP IHIYVIIKAL VTIPETTFQT VSWHFCIALG
YTNSCLNPVL YAFLDENFKR CFREFCIPTS SNIEQQNSTR IRQNTRDHPS TANTVDRTNH
QLENLEAETA PLP*
mutated AA sequence MCLHRRVPSE ETYSLDRFAQ NPPLFPPPSL PASESRMAHA PLLQRCGAAR TGFCKKQQEL
WQRRKEAAEA LGTRKVSVLL ATSHSGARPA VSTMDSSAAP TNASNCTDAL AYSSCSPAPS
PGSWVNLSHL DGDLSDPCGP NRTDLGGRDS LCPPTGSPSM ITAITIMALY SIVCVVGLFG
NFLVMYVIVR YTKMKTATNI YIFNLALADA LATSTLPFQS VNYLMGTWPF GTILCKIVIS
IDYYNMFTSI FTLCTMSVDR YIAVCHPVKA LDFRTPRNAK IINVCNWILS SAIGLPVMFM
ATTKYRQGSI DCTLTFSHPT WYWENLLKIC VFIFAFIMPV LIITVCYGLM ILRLKSVRML
SGSKEKDRNL RRITRMVLVV VAVFIVCWTP IHIYVIIKAL VTIPETTFQT VSWHFCIALG
YTNSCLNPVL YAFLDENFKR CFREFCIPTS SNIEQQNSTR IRQNTRDHPS TANTVDRTNH
QLENLEAETA PLP*
speed 0.78 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000330432
Genbank transcript ID NM_000914
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.355A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 173
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1203 / 1203
position (AA) of stopcodon in wt / mu AA sequence 401 / 401
position of stopcodon in wt / mu cDNA 1440 / 1440
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 238 / 238
chromosome 6
strand 1
last intron/exon boundary 1402
theoretical NMD boundary in CDS 1114
length of CDS 1203
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 355
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQLE NLEAETAPLP *
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQLE NLEAETAPLP *
speed 0.72 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000428397
Genbank transcript ID NM_001008504
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.314A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 173
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1179 / 1179
position (AA) of stopcodon in wt / mu AA sequence 393 / 393
position of stopcodon in wt / mu cDNA 1375 / 1375
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 197 / 197
chromosome 6
strand 1
last intron/exon boundary 840
theoretical NMD boundary in CDS 593
length of CDS 1179
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 314
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQVR SL*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQVR SL*
speed 0.82 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000452687
Genbank transcript ID NM_001145282
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.207A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 173
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1221 / 1221
position (AA) of stopcodon in wt / mu AA sequence 407 / 407
position of stopcodon in wt / mu cDNA 1310 / 1310
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 90 / 90
chromosome 6
strand 1
last intron/exon boundary 1254
theoretical NMD boundary in CDS 1114
length of CDS 1221
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 207
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQKI DLFQKSSLLN CEHTKG*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQKI DLFQKSSLLN CEHTKG*
speed 0.73 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000229768
Genbank transcript ID NM_001008505
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.168A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1341 / 1341
position (AA) of stopcodon in wt / mu AA sequence 447 / 447
position of stopcodon in wt / mu cDNA 1391 / 1391
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 51 / 51
chromosome 6
strand 1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1114
length of CDS 1341
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 168
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQCL PIPSLSCWAL EQGCLVVYPG PLQGPLVRYD
LPAILHSSCL RGNTAPSPSG GAFLLS*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQCL PIPSLSCWAL EQGCLVVYPG PLQGPLVRYD
LPAILHSSCL RGNTAPSPSG GAFLLS*
speed 0.78 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000419506
Genbank transcript ID NM_001145286
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.168A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1263 / 1263
position (AA) of stopcodon in wt / mu AA sequence 421 / 421
position of stopcodon in wt / mu cDNA 1313 / 1313
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 51 / 51
chromosome 6
strand 1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1114
length of CDS 1263
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 168
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQVE LNLDCHCENA KPWPLSYNAG QSPFPFPGRV
*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQVE LNLDCHCENA KPWPLSYNAG QSPFPFPGRV
*
speed 0.67 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000524163
Genbank transcript ID NM_001145285
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.168A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1170 / 1170
position (AA) of stopcodon in wt / mu AA sequence 390 / 390
position of stopcodon in wt / mu cDNA 1220 / 1220
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 51 / 51
chromosome 6
strand 1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1114
length of CDS 1170
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 168
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQS*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQS*
speed 0.66 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000414028
Genbank transcript ID NM_001145284
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.168A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1262 / 1262
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 51 / 51
chromosome 6
strand 1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1114
length of CDS 1212
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 168
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQGP PAKFVADQLA GSS*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQGP PAKFVADQLA GSS*
speed 0.72 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000435918
Genbank transcript ID NM_001145283
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.168A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1194 / 1194
position (AA) of stopcodon in wt / mu AA sequence 398 / 398
position of stopcodon in wt / mu cDNA 1244 / 1244
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 51 / 51
chromosome 6
strand 1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1114
length of CDS 1194
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 168
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQRE RRQKSDW*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQRE RRQKSDW*
speed 0.79 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000337049
Genbank transcript ID NM_001008503
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.168A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1307 / 1307
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 51 / 51
chromosome 6
strand 1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1114
length of CDS 1257
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 168
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQPP LAVSMAQIFT RYPPPTHREK TCNDYMKR*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQPP LAVSMAQIFT RYPPPTHREK TCNDYMKR*
speed 0.79 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0030489120413123 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000360422
Genbank transcript ID N/A
UniProt peptide P35372
alteration type single base exchange
alteration region CDS
DNA changes c.118A>G
cDNA.355A>G
g.29167A>G
AA changes N40D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 173
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40GSWVNLSHLDGNLSDPCGPNRTDL
mutated  all conserved    40GSWVNLSHLDGDLSDPCGPNRTD
Ptroglodytes  all identical  ENSPTRG00000018723  40GSWVNLSHLDGNLSDPCGPNRTD
Mmulatta  all identical  ENSMMUG00000022691  40GSWVNLSHLDGNLSDPCGPNRTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000000766  40GSWLNLSHVDGNQSDPCGPNRTG
Ggallus  all identical  ENSGALG00000013616  42GAWGN-STAGWNRSEPCGGANGS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000039434  35----NSSIFCRNFSNSSGL----
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).lost
4040CARBOHYDN-linked (GlcNAc...) (Potential).lost
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1209 / 1209
position (AA) of stopcodon in wt / mu AA sequence 403 / 403
position of stopcodon in wt / mu cDNA 1446 / 1446
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 238 / 238
chromosome 6
strand 1
last intron/exon boundary 1402
theoretical NMD boundary in CDS 1114
length of CDS 1209
coding sequence (CDS) position 118
cDNA position
(for ins/del: last normal base / first normal base)		 355
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered cDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
wildtype AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGN LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQIR DPISNLPRVS VF*
mutated AA sequence MDSSAAPTNA SNCTDALAYS SCSPAPSPGS WVNLSHLDGD LSDPCGPNRT DLGGRDSLCP
PTGSPSMITA ITIMALYSIV CVVGLFGNFL VMYVIVRYTK MKTATNIYIF NLALADALAT
STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL CTMSVDRYIA VCHPVKALDF
RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT LTFSHPTWYW ENLLKICVFI
FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI TRMVLVVVAV FIVCWTPIHI
YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF LDENFKRCFR EFCIPTSSNI
EQQNSTRIRQ NTRDHPSTAN TVDRTNHQIR DPISNLPRVS VF*
speed 0.53 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 1.58720117925414e-23 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000520708
Genbank transcript ID N/A
UniProt peptide P35372
alteration type single base exchange
alteration region intron
DNA changes g.29167A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -2) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 28644
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
99CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
1212CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
2626CONFLICTP -> L (in Ref. 10; BAG36624).might get lost (downstream of altered splice site)
3333CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
4040CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 529 / 529
chromosome 6
strand 1
last intron/exon boundary 1393
theoretical NMD boundary in CDS 814
length of CDS 903
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MKTATNIYIF NLALADALAT STLPFQSVNY LMGTWPFGTI LCKIVISIDY YNMFTSIFTL
CTMSVDRYIA VCHPVKALDF RTPRNAKIIN VCNWILSSAI GLPVMFMATT KYRQGSIDCT
LTFSHPTWYW ENLLKICVFI FAFIMPVLII TVCYGLMILR LKSVRMLSGS KEKDRNLRRI
TRMVLVVVAV FIVCWTPIHI YVIIKALVTI PETTFQTVSW HFCIALGYTN SCLNPVLYAF
LDENFKRCFR EFCIPTSSNI EQQNSTRIRQ NTRDHPSTAN TVDRTNHQLE NLEAETAPLP
*
mutated AA sequence N/A
speed 0.53 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 1.58720117925414e-23 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM003770)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:154360797A>GN/A show variant in all transcripts   IGV
HGNC symbol OPRM1
Ensembl transcript ID ENST00000518759
Genbank transcript ID NM_001145281
UniProt peptide P35372
alteration type single base exchange
alteration region intron
DNA changes g.29167A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1799971
databasehomozygous (G/G)heterozygousallele carriers
1000G179761940
ExAC28881655119439

known disease mutation at this position, please check HGMD for details (HGMD ID CM003770)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Nrsf, Transcription Factor, Nrsf TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8231
2.8011
(flanking)2.0711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29159wt: 0.7097 / mu: 0.7727 (marginal change - not scored)wt: CTGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACC
mu: CTGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACC		 actt|AGAT
Acc increased29160wt: 0.25 / mu: 0.39wt: TGGGTCAACTTGTCCCACTTAGATGGCAACCTGTCCGACCC
mu: TGGGTCAACTTGTCCCACTTAGATGGCGACCTGTCCGACCC		 ctta|GATG
Donor marginally increased29164wt: 0.6285 / mu: 0.6321 (marginal change - not scored)wt: TAGATGGCAACCTGT
mu: TAGATGGCGACCTGT		 GATG|gcaa
distance from splice site 29103
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
166TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
2626CONFLICTP -> L (in Ref. 10; BAG36624).might get lost (downstream of altered splice site)
3333CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
4040CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
4848CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5151CONFLICTD -> N (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
6796TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
97105TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
106123TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
109109CONFLICTI -> V (in Ref. 6; AAQ77391).might get lost (downstream of altered splice site)
124145TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
142142MUTAGENC->A,S: Abolishes ligand binding; when associated with A-219 or S-219.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
146165TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
166195TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168168MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
196211TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
207207CONFLICTM -> I (in Ref. 2; AAB60354).might get lost (downstream of altered splice site)
212236TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
219219MUTAGENC->A,S: Abolishes ligand binding; when associated with A-142 or S-142.might get lost (downstream of altered splice site)
234234CONFLICTL -> V (in Ref. 1; AAA20580).might get lost (downstream of altered splice site)
237259TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
260282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
273273MUTAGENK->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
275275MUTAGENR->A: Impairs interaction with calmodulin.might get lost (downstream of altered splice site)
283305TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
306313TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
314330TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
331400TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
353353LIPIDS-palmitoyl cysteine (Potential).might get lost (downstream of altered splice site)
365365MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
372372MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
377377MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 13 / 13
chromosome 6
strand 1
last intron/exon boundary 934
theoretical NMD boundary in CDS 871
length of CDS 960
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 29167
chromosomal position
(for ins/del: last normal base / first normal base)		 154360797
original gDNA sequence snippet ACTTGTCCCACTTAGATGGCAACCTGTCCGACCCATGCGGT
altered gDNA sequence snippet ACTTGTCCCACTTAGATGGCGACCTGTCCGACCCATGCGGT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MMRAKSISTK AGKPSRYTKM KTATNIYIFN LALADALATS TLPFQSVNYL MGTWPFGTIL
CKIVISIDYY NMFTSIFTLC TMSVDRYIAV CHPVKALDFR TPRNAKIINV CNWILSSAIG
LPVMFMATTK YRQGSIDCTL TFSHPTWYWE NLLKICVFIF AFIMPVLIIT VCYGLMILRL
KSVRMLSGSK EKDRNLRRIT RMVLVVVAVF IVCWTPIHIY VIIKALVTIP ETTFQTVSWH
FCIALGYTNS CLNPVLYAFL DENFKRCFRE FCIPTSSNIE QQNSTRIRQN TRDHPSTANT
VDRTNHQLEN LEAETAPLP*
mutated AA sequence N/A
speed 0.53 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

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