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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000338130
Querying Taster for transcript #2: ENST00000380441
Querying Taster for transcript #3: ENST00000380455
Querying Taster for transcript #4: ENST00000380454
Querying Taster for transcript #5: ENST00000380430
MT speed 0 s - this script 5.765057 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NQO2polymorphism_automatic0.000353073253261948simple_aaeaffectedL47Fsingle base exchangers1143684show file
NQO2polymorphism_automatic0.000353073253261948simple_aaeaffectedL47Fsingle base exchangers1143684show file
NQO2polymorphism_automatic0.000353073253261948simple_aaeaffectedL47Fsingle base exchangers1143684show file
NQO2polymorphism_automatic0.000353073253261948simple_aaeaffectedL47Fsingle base exchangers1143684show file
NQO2polymorphism_automatic0.000353073253261948simple_aaeaffectedL47Fsingle base exchangers1143684show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999646926746738 (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 CM102490)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:3010390C>TN/A show variant in all transcripts   IGV
HGNC symbol NQO2
Ensembl transcript ID ENST00000338130
Genbank transcript ID N/A
UniProt peptide P16083
alteration type single base exchange
alteration region CDS
DNA changes c.139C>T
cDNA.851C>T
g.22170C>T
AA changes L47F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 47
frameshift no
known variant Reference ID: rs1143684
databasehomozygous (T/T)heterozygousallele carriers
1000G16217522373
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM102490)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5740.998
2.5381
(flanking)3.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22174wt: 0.32 / mu: 0.51wt: TTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGACAAAG
mu: TTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGACAAAG		 ttga|GCCG
Acc increased22160wt: 0.43 / mu: 0.55wt: GTCACAGTGTCTGATTTGTATGCCATGAACCTTGAGCCGAG
mu: GTCACAGTGTCTGATTTGTATGCCATGAACTTTGAGCCGAG		 gtat|GCCA
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      47TVTVSDLYAMNLEPRATDKDITGT
mutated  not conserved    47TVTVSDLYAMNFEPRATDKDITG
Ptroglodytes  not conserved  ENSPTRG00000017670  47TVTVSDLYAMNFEPRATDKDITG
Mmulatta  not conserved  ENSMMUG00000008487  47TVTVSDLYAMNFEPRATRKDITA
Fcatus  no alignment  ENSFCAG00000013029  n/a
Mmusculus  not conserved  ENSMUSG00000046949  47TVTVSDLYSMNFEPRATRNDITG
Ggallus  not conserved  ENSGALG00000012828  47SVTVSDLYAMQFEPRATRNDIVG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4246TURNmight get lost (downstream of altered splice site)
5355HELIXmight get lost (downstream of altered splice site)
6365STRANDmight get lost (downstream of altered splice site)
6878HELIXmight get lost (downstream of altered splice site)
8080MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8394HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
104107NP_BINDFAD.might get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
111120HELIXmight get lost (downstream of altered splice site)
123125TURNmight get lost (downstream of altered splice site)
127129REGIONSubstrate binding.might get lost (downstream of altered splice site)
129132STRANDmight get lost (downstream of altered splice site)
133135HELIXmight get lost (downstream of altered splice site)
137140TURNmight get lost (downstream of altered splice site)
140140CONFLICTG -> C (in Ref. 2; AAB60642).might get lost (downstream of altered splice site)
142148STRANDmight get lost (downstream of altered splice site)
148151NP_BINDFAD.might get lost (downstream of altered splice site)
153156TURNmight get lost (downstream of altered splice site)
156156BINDINGFAD.might get lost (downstream of altered splice site)
160162STRANDmight get lost (downstream of altered splice site)
162162MUTAGENN->H: Loss of activity toward CB1954, no effect toward menadione.might get lost (downstream of altered splice site)
165173HELIXmight get lost (downstream of altered splice site)
174174METALZinc.might get lost (downstream of altered splice site)
174178HELIXmight get lost (downstream of altered splice site)
178178METALZinc.might get lost (downstream of altered splice site)
179181TURNmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
193195TURNmight get lost (downstream of altered splice site)
194194BINDINGFAD.might get lost (downstream of altered splice site)
197197MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
198213HELIXmight get lost (downstream of altered splice site)
201201BINDINGFAD.might get lost (downstream of altered splice site)
214217HELIXmight get lost (downstream of altered splice site)
223223METALZinc.might get lost (downstream of altered splice site)
225229HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 696 / 696
position (AA) of stopcodon in wt / mu AA sequence 232 / 232
position of stopcodon in wt / mu cDNA 1408 / 1408
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 713 / 713
chromosome 6
strand 1
last intron/exon boundary 1232
theoretical NMD boundary in CDS 469
length of CDS 696
coding sequence (CDS) position 139
cDNA position
(for ins/del: last normal base / first normal base)		 851
gDNA position
(for ins/del: last normal base / first normal base)		 22170
chromosomal position
(for ins/del: last normal base / first normal base)		 3010390
original gDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered gDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
original cDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered cDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
wildtype AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNLEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QFPLYWFSVP AILKGWMDRV
LCQGFAFDIP GFYDSGLLQG KLALLSVTTG GTAEMYTKTG VNGDSRYFLW PLQHGTLHFC
GFKVLAPQIS FAPEIASEEE RKGMVAAWSQ RLQTIWKEEP IPCTAHWHFG Q*
mutated AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNFEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QFPLYWFSVP AILKGWMDRV
LCQGFAFDIP GFYDSGLLQG KLALLSVTTG GTAEMYTKTG VNGDSRYFLW PLQHGTLHFC
GFKVLAPQIS FAPEIASEEE RKGMVAAWSQ RLQTIWKEEP IPCTAHWHFG Q*
speed 1.27 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: 0.999646926746738 (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 CM102490)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:3010390C>TN/A show variant in all transcripts   IGV
HGNC symbol NQO2
Ensembl transcript ID ENST00000380455
Genbank transcript ID NM_000904
UniProt peptide P16083
alteration type single base exchange
alteration region CDS
DNA changes c.139C>T
cDNA.313C>T
g.22170C>T
AA changes L47F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 47
frameshift no
known variant Reference ID: rs1143684
databasehomozygous (T/T)heterozygousallele carriers
1000G16217522373
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM102490)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5740.998
2.5381
(flanking)3.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22174wt: 0.32 / mu: 0.51wt: TTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGACAAAG
mu: TTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGACAAAG		 ttga|GCCG
Acc increased22160wt: 0.43 / mu: 0.55wt: GTCACAGTGTCTGATTTGTATGCCATGAACCTTGAGCCGAG
mu: GTCACAGTGTCTGATTTGTATGCCATGAACTTTGAGCCGAG		 gtat|GCCA
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      47TVTVSDLYAMNLEPRATDKDITGT
mutated  not conserved    47TVTVSDLYAMNFEPRATDKDITG
Ptroglodytes  not conserved  ENSPTRG00000017670  47TVTVSDLYAMNFEPRATDKDITG
Mmulatta  not conserved  ENSMMUG00000008487  47TVTVSDLYAMNFEPRATRKDITA
Fcatus  no alignment  ENSFCAG00000013029  n/a
Mmusculus  not conserved  ENSMUSG00000046949  47TVTVSDLYSMNFEPRATRNDITG
Ggallus  not conserved  ENSGALG00000012828  47SVTVSDLYAMQFEPRATRNDIVG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4246TURNmight get lost (downstream of altered splice site)
5355HELIXmight get lost (downstream of altered splice site)
6365STRANDmight get lost (downstream of altered splice site)
6878HELIXmight get lost (downstream of altered splice site)
8080MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8394HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
104107NP_BINDFAD.might get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
111120HELIXmight get lost (downstream of altered splice site)
123125TURNmight get lost (downstream of altered splice site)
127129REGIONSubstrate binding.might get lost (downstream of altered splice site)
129132STRANDmight get lost (downstream of altered splice site)
133135HELIXmight get lost (downstream of altered splice site)
137140TURNmight get lost (downstream of altered splice site)
140140CONFLICTG -> C (in Ref. 2; AAB60642).might get lost (downstream of altered splice site)
142148STRANDmight get lost (downstream of altered splice site)
148151NP_BINDFAD.might get lost (downstream of altered splice site)
153156TURNmight get lost (downstream of altered splice site)
156156BINDINGFAD.might get lost (downstream of altered splice site)
160162STRANDmight get lost (downstream of altered splice site)
162162MUTAGENN->H: Loss of activity toward CB1954, no effect toward menadione.might get lost (downstream of altered splice site)
165173HELIXmight get lost (downstream of altered splice site)
174174METALZinc.might get lost (downstream of altered splice site)
174178HELIXmight get lost (downstream of altered splice site)
178178METALZinc.might get lost (downstream of altered splice site)
179181TURNmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
193195TURNmight get lost (downstream of altered splice site)
194194BINDINGFAD.might get lost (downstream of altered splice site)
197197MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
198213HELIXmight get lost (downstream of altered splice site)
201201BINDINGFAD.might get lost (downstream of altered splice site)
214217HELIXmight get lost (downstream of altered splice site)
223223METALZinc.might get lost (downstream of altered splice site)
225229HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 696 / 696
position (AA) of stopcodon in wt / mu AA sequence 232 / 232
position of stopcodon in wt / mu cDNA 870 / 870
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 175 / 175
chromosome 6
strand 1
last intron/exon boundary 694
theoretical NMD boundary in CDS 469
length of CDS 696
coding sequence (CDS) position 139
cDNA position
(for ins/del: last normal base / first normal base)		 313
gDNA position
(for ins/del: last normal base / first normal base)		 22170
chromosomal position
(for ins/del: last normal base / first normal base)		 3010390
original gDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered gDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
original cDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered cDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
wildtype AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNLEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QFPLYWFSVP AILKGWMDRV
LCQGFAFDIP GFYDSGLLQG KLALLSVTTG GTAEMYTKTG VNGDSRYFLW PLQHGTLHFC
GFKVLAPQIS FAPEIASEEE RKGMVAAWSQ RLQTIWKEEP IPCTAHWHFG Q*
mutated AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNFEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QFPLYWFSVP AILKGWMDRV
LCQGFAFDIP GFYDSGLLQG KLALLSVTTG GTAEMYTKTG VNGDSRYFLW PLQHGTLHFC
GFKVLAPQIS FAPEIASEEE RKGMVAAWSQ RLQTIWKEEP IPCTAHWHFG Q*
speed 1.23 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: 0.999646926746738 (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 CM102490)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:3010390C>TN/A show variant in all transcripts   IGV
HGNC symbol NQO2
Ensembl transcript ID ENST00000380441
Genbank transcript ID N/A
UniProt peptide P16083
alteration type single base exchange
alteration region CDS
DNA changes c.139C>T
cDNA.478C>T
g.22170C>T
AA changes L47F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 47
frameshift no
known variant Reference ID: rs1143684
databasehomozygous (T/T)heterozygousallele carriers
1000G16217522373
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM102490)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5740.998
2.5381
(flanking)3.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22174wt: 0.32 / mu: 0.51wt: TTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGACAAAG
mu: TTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGACAAAG		 ttga|GCCG
Acc increased22160wt: 0.43 / mu: 0.55wt: GTCACAGTGTCTGATTTGTATGCCATGAACCTTGAGCCGAG
mu: GTCACAGTGTCTGATTTGTATGCCATGAACTTTGAGCCGAG		 gtat|GCCA
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      47TVTVSDLYAMNLEPRATDKDITGT
mutated  not conserved    47TVTVSDLYAMNFEPRATDKDITG
Ptroglodytes  not conserved  ENSPTRG00000017670  47TVTVSDLYAMNFEPRATDKDITG
Mmulatta  not conserved  ENSMMUG00000008487  47TVTVSDLYAMNFEPRATRKDITA
Fcatus  no alignment  ENSFCAG00000013029  n/a
Mmusculus  not conserved  ENSMUSG00000046949  47TVTVSDLYSMNFEPRATRNDITG
Ggallus  not conserved  ENSGALG00000012828  47SVTVSDLYAMQFEPRATRNDIVG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4246TURNmight get lost (downstream of altered splice site)
5355HELIXmight get lost (downstream of altered splice site)
6365STRANDmight get lost (downstream of altered splice site)
6878HELIXmight get lost (downstream of altered splice site)
8080MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8394HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
104107NP_BINDFAD.might get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
111120HELIXmight get lost (downstream of altered splice site)
123125TURNmight get lost (downstream of altered splice site)
127129REGIONSubstrate binding.might get lost (downstream of altered splice site)
129132STRANDmight get lost (downstream of altered splice site)
133135HELIXmight get lost (downstream of altered splice site)
137140TURNmight get lost (downstream of altered splice site)
140140CONFLICTG -> C (in Ref. 2; AAB60642).might get lost (downstream of altered splice site)
142148STRANDmight get lost (downstream of altered splice site)
148151NP_BINDFAD.might get lost (downstream of altered splice site)
153156TURNmight get lost (downstream of altered splice site)
156156BINDINGFAD.might get lost (downstream of altered splice site)
160162STRANDmight get lost (downstream of altered splice site)
162162MUTAGENN->H: Loss of activity toward CB1954, no effect toward menadione.might get lost (downstream of altered splice site)
165173HELIXmight get lost (downstream of altered splice site)
174174METALZinc.might get lost (downstream of altered splice site)
174178HELIXmight get lost (downstream of altered splice site)
178178METALZinc.might get lost (downstream of altered splice site)
179181TURNmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
193195TURNmight get lost (downstream of altered splice site)
194194BINDINGFAD.might get lost (downstream of altered splice site)
197197MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
198213HELIXmight get lost (downstream of altered splice site)
201201BINDINGFAD.might get lost (downstream of altered splice site)
214217HELIXmight get lost (downstream of altered splice site)
223223METALZinc.might get lost (downstream of altered splice site)
225229HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 582 / 582
position (AA) of stopcodon in wt / mu AA sequence 194 / 194
position of stopcodon in wt / mu cDNA 921 / 921
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 340 / 340
chromosome 6
strand 1
last intron/exon boundary 745
theoretical NMD boundary in CDS 355
length of CDS 582
coding sequence (CDS) position 139
cDNA position
(for ins/del: last normal base / first normal base)		 478
gDNA position
(for ins/del: last normal base / first normal base)		 22170
chromosomal position
(for ins/del: last normal base / first normal base)		 3010390
original gDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered gDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
original cDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered cDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
wildtype AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNLEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QGKLALLSVT TGGTAEMYTK
TGVNGDSRYF LWPLQHGTLH FCGFKVLAPQ ISFAPEIASE EERKGMVAAW SQRLQTIWKE
EPIPCTAHWH FGQ*
mutated AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNFEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QGKLALLSVT TGGTAEMYTK
TGVNGDSRYF LWPLQHGTLH FCGFKVLAPQ ISFAPEIASE EERKGMVAAW SQRLQTIWKE
EPIPCTAHWH FGQ*
speed 0.14 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: 0.999646926746738 (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 CM102490)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:3010390C>TN/A show variant in all transcripts   IGV
HGNC symbol NQO2
Ensembl transcript ID ENST00000380454
Genbank transcript ID N/A
UniProt peptide P16083
alteration type single base exchange
alteration region CDS
DNA changes c.139C>T
cDNA.308C>T
g.22170C>T
AA changes L47F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 47
frameshift no
known variant Reference ID: rs1143684
databasehomozygous (T/T)heterozygousallele carriers
1000G16217522373
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM102490)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5740.998
2.5381
(flanking)3.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22174wt: 0.32 / mu: 0.51wt: TTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGACAAAG
mu: TTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGACAAAG		 ttga|GCCG
Acc increased22160wt: 0.43 / mu: 0.55wt: GTCACAGTGTCTGATTTGTATGCCATGAACCTTGAGCCGAG
mu: GTCACAGTGTCTGATTTGTATGCCATGAACTTTGAGCCGAG		 gtat|GCCA
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      47TVTVSDLYAMNLEPRATDKDITGT
mutated  not conserved    47TVTVSDLYAMNFEPRATDKDITG
Ptroglodytes  not conserved  ENSPTRG00000017670  47TVTVSDLYAMNFEPRATDKDITG
Mmulatta  not conserved  ENSMMUG00000008487  47TVTVSDLYAMNFEPRATRKDITA
Fcatus  no alignment  ENSFCAG00000013029  n/a
Mmusculus  not conserved  ENSMUSG00000046949  47TVTVSDLYSMNFEPRATRNDITG
Ggallus  not conserved  ENSGALG00000012828  47SVTVSDLYAMQFEPRATRNDIVG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4246TURNmight get lost (downstream of altered splice site)
5355HELIXmight get lost (downstream of altered splice site)
6365STRANDmight get lost (downstream of altered splice site)
6878HELIXmight get lost (downstream of altered splice site)
8080MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8394HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
104107NP_BINDFAD.might get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
111120HELIXmight get lost (downstream of altered splice site)
123125TURNmight get lost (downstream of altered splice site)
127129REGIONSubstrate binding.might get lost (downstream of altered splice site)
129132STRANDmight get lost (downstream of altered splice site)
133135HELIXmight get lost (downstream of altered splice site)
137140TURNmight get lost (downstream of altered splice site)
140140CONFLICTG -> C (in Ref. 2; AAB60642).might get lost (downstream of altered splice site)
142148STRANDmight get lost (downstream of altered splice site)
148151NP_BINDFAD.might get lost (downstream of altered splice site)
153156TURNmight get lost (downstream of altered splice site)
156156BINDINGFAD.might get lost (downstream of altered splice site)
160162STRANDmight get lost (downstream of altered splice site)
162162MUTAGENN->H: Loss of activity toward CB1954, no effect toward menadione.might get lost (downstream of altered splice site)
165173HELIXmight get lost (downstream of altered splice site)
174174METALZinc.might get lost (downstream of altered splice site)
174178HELIXmight get lost (downstream of altered splice site)
178178METALZinc.might get lost (downstream of altered splice site)
179181TURNmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
193195TURNmight get lost (downstream of altered splice site)
194194BINDINGFAD.might get lost (downstream of altered splice site)
197197MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
198213HELIXmight get lost (downstream of altered splice site)
201201BINDINGFAD.might get lost (downstream of altered splice site)
214217HELIXmight get lost (downstream of altered splice site)
223223METALZinc.might get lost (downstream of altered splice site)
225229HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 582 / 582
position (AA) of stopcodon in wt / mu AA sequence 194 / 194
position of stopcodon in wt / mu cDNA 751 / 751
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 170 / 170
chromosome 6
strand 1
last intron/exon boundary 575
theoretical NMD boundary in CDS 355
length of CDS 582
coding sequence (CDS) position 139
cDNA position
(for ins/del: last normal base / first normal base)		 308
gDNA position
(for ins/del: last normal base / first normal base)		 22170
chromosomal position
(for ins/del: last normal base / first normal base)		 3010390
original gDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered gDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
original cDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered cDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
wildtype AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNLEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QGKLALLSVT TGGTAEMYTK
TGVNGDSRYF LWPLQHGTLH FCGFKVLAPQ ISFAPEIASE EERKGMVAAW SQRLQTIWKE
EPIPCTAHWH FGQ*
mutated AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNFEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QGKLALLSVT TGGTAEMYTK
TGVNGDSRYF LWPLQHGTLH FCGFKVLAPQ ISFAPEIASE EERKGMVAAW SQRLQTIWKE
EPIPCTAHWH FGQ*
speed 1.22 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999646926746738 (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 CM102490)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:3010390C>TN/A show variant in all transcripts   IGV
HGNC symbol NQO2
Ensembl transcript ID ENST00000380430
Genbank transcript ID N/A
UniProt peptide P16083
alteration type single base exchange
alteration region CDS
DNA changes c.139C>T
cDNA.434C>T
g.22170C>T
AA changes L47F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 47
frameshift no
known variant Reference ID: rs1143684
databasehomozygous (T/T)heterozygousallele carriers
1000G16217522373
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM102490)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5740.998
2.5381
(flanking)3.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22174wt: 0.32 / mu: 0.51wt: TTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGACAAAG
mu: TTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGACAAAG		 ttga|GCCG
Acc increased22160wt: 0.43 / mu: 0.55wt: GTCACAGTGTCTGATTTGTATGCCATGAACCTTGAGCCGAG
mu: GTCACAGTGTCTGATTTGTATGCCATGAACTTTGAGCCGAG		 gtat|GCCA
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      47TVTVSDLYAMNLEPRATDKDITGT
mutated  not conserved    47TVTVSDLYAMNFEPRATDKDITG
Ptroglodytes  not conserved  ENSPTRG00000017670  47TVTVSDLYAMNFEPRATDKDITG
Mmulatta  not conserved  ENSMMUG00000008487  47TVTVSDLYAMNFEPRATRKDITA
Fcatus  no alignment  ENSFCAG00000013029  n/a
Mmusculus  not conserved  ENSMUSG00000046949  47TVTVSDLYSMNFEPRATRNDITG
Ggallus  not conserved  ENSGALG00000012828  47SVTVSDLYAMQFEPRATRNDIVG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4246TURNmight get lost (downstream of altered splice site)
5355HELIXmight get lost (downstream of altered splice site)
6365STRANDmight get lost (downstream of altered splice site)
6878HELIXmight get lost (downstream of altered splice site)
8080MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8394HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
104107NP_BINDFAD.might get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
111120HELIXmight get lost (downstream of altered splice site)
123125TURNmight get lost (downstream of altered splice site)
127129REGIONSubstrate binding.might get lost (downstream of altered splice site)
129132STRANDmight get lost (downstream of altered splice site)
133135HELIXmight get lost (downstream of altered splice site)
137140TURNmight get lost (downstream of altered splice site)
140140CONFLICTG -> C (in Ref. 2; AAB60642).might get lost (downstream of altered splice site)
142148STRANDmight get lost (downstream of altered splice site)
148151NP_BINDFAD.might get lost (downstream of altered splice site)
153156TURNmight get lost (downstream of altered splice site)
156156BINDINGFAD.might get lost (downstream of altered splice site)
160162STRANDmight get lost (downstream of altered splice site)
162162MUTAGENN->H: Loss of activity toward CB1954, no effect toward menadione.might get lost (downstream of altered splice site)
165173HELIXmight get lost (downstream of altered splice site)
174174METALZinc.might get lost (downstream of altered splice site)
174178HELIXmight get lost (downstream of altered splice site)
178178METALZinc.might get lost (downstream of altered splice site)
179181TURNmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
193195TURNmight get lost (downstream of altered splice site)
194194BINDINGFAD.might get lost (downstream of altered splice site)
197197MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
198213HELIXmight get lost (downstream of altered splice site)
201201BINDINGFAD.might get lost (downstream of altered splice site)
214217HELIXmight get lost (downstream of altered splice site)
223223METALZinc.might get lost (downstream of altered splice site)
225229HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 696 / 696
position (AA) of stopcodon in wt / mu AA sequence 232 / 232
position of stopcodon in wt / mu cDNA 991 / 991
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 296 / 296
chromosome 6
strand 1
last intron/exon boundary 815
theoretical NMD boundary in CDS 469
length of CDS 696
coding sequence (CDS) position 139
cDNA position
(for ins/del: last normal base / first normal base)		 434
gDNA position
(for ins/del: last normal base / first normal base)		 22170
chromosomal position
(for ins/del: last normal base / first normal base)		 3010390
original gDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered gDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
original cDNA sequence snippet CTGATTTGTATGCCATGAACCTTGAGCCGAGGGCCACAGAC
altered cDNA sequence snippet CTGATTTGTATGCCATGAACTTTGAGCCGAGGGCCACAGAC
wildtype AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNLEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QFPLYWFSVP AILKGWMDRV
LCQGFAFDIP GFYDSGLLQG KLALLSVTTG GTAEMYTKTG VNGDSRYFLW PLQHGTLHFC
GFKVLAPQIS FAPEIASEEE RKGMVAAWSQ RLQTIWKEEP IPCTAHWHFG Q*
mutated AA sequence MAGKKVLIVY AHQEPKSFNG SLKNVAVDEL SRQGCTVTVS DLYAMNFEPR ATDKDITGTL
SNPEVFNYGV ETHEAYKQRS LASDITDEQK KVREADLVIF QFPLYWFSVP AILKGWMDRV
LCQGFAFDIP GFYDSGLLQG KLALLSVTTG GTAEMYTKTG VNGDSRYFLW PLQHGTLHFC
GFKVLAPQIS FAPEIASEEE RKGMVAAWSQ RLQTIWKEEP IPCTAHWHFG Q*
speed 0.11 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
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