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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000524140
Querying Taster for transcript #2: ENST00000549814
Querying Taster for transcript #3: ENST00000552788
Querying Taster for transcript #4: ENST00000379808
Querying Taster for transcript #5: ENST00000339803
Querying Taster for transcript #6: ENST00000523826
MT speed 0 s - this script 6.51283 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NWD1polymorphism_automatic4.72460571998568e-06simple_aaeaffectedH935Rsingle base exchangers2608738show file
NWD1polymorphism_automatic8.16632823497088e-06simple_aaeaffectedH800Rsingle base exchangers2608738show file
NWD1polymorphism_automatic8.16632823497088e-06simple_aaeaffectedH729Rsingle base exchangers2608738show file
NWD1polymorphism_automatic1.10305128350197e-05simple_aaeaffectedH935Rsingle base exchangers2608738show file
NWD1polymorphism_automatic1.10305128350197e-05simple_aaeaffectedH935Rsingle base exchangers2608738show file
NWD1polymorphism_automatic1.10305128350197e-05simple_aaeaffectedH935Rsingle base exchangers2608738show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999527539428 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:16899865A>GN/A show variant in all transcripts   IGV
HGNC symbol NWD1
Ensembl transcript ID ENST00000549814
Genbank transcript ID N/A
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2804A>G
cDNA.3055A>G
g.69079A>G
AA changes H935R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 935
frameshift no
known variant Reference ID: rs2608738
databasehomozygous (G/G)heterozygousallele carriers
1000G263488751
ExAC164279979639
regulatory features H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1860.85
1.9340.838
(flanking)0.0610.582
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained690730.95mu: TTACACGCTGCGCTT ACAC|gctg
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      935LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    935LANSASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908LAISASKDYTLRLWNLLTGQEKF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000048148  935LAISASKDHTLRLWSLLSGQEKV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0038397  1234DYAVAGVRKNLYVWCLQSGQLAKV
Celegans  no alignment  T05C3.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
908947REPEATWD 3.lost
956994REPEATWD 4.might get lost (downstream of altered splice site)
994994CONFLICTH -> Y (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
9981037REPEATWD 5.might get lost (downstream of altered splice site)
10441082REPEATWD 6.might get lost (downstream of altered splice site)
10561056CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
10831121REPEATWD 7.might get lost (downstream of altered splice site)
11261165REPEATWD 8.might get lost (downstream of altered splice site)
11411141CONFLICTN -> S (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
11671207REPEATWD 9.might get lost (downstream of altered splice site)
11711171CONFLICTG -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
12121251REPEATWD 10.might get lost (downstream of altered splice site)
12531292REPEATWD 11.might get lost (downstream of altered splice site)
13861425REPEATWD 12.might get lost (downstream of altered splice site)
13991399CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
14311470REPEATWD 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4569 / 4569
position (AA) of stopcodon in wt / mu AA sequence 1523 / 1523
position of stopcodon in wt / mu cDNA 4820 / 4820
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 252 / 252
chromosome 19
strand 1
last intron/exon boundary 4519
theoretical NMD boundary in CDS 4217
length of CDS 4569
coding sequence (CDS) position 2804
cDNA position
(for ins/del: last normal base / first normal base)		 3055
gDNA position
(for ins/del: last normal base / first normal base)		 69079
chromosomal position
(for ins/del: last normal base / first normal base)		 16899865
original gDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered gDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
original cDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered cDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
wildtype AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLHLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWDLSDA HRSRVPAPFL DRTGLTAVSH NGSYVYFPKI GDKNKVTIWD
LAEGEEQDSL DTSSEIRCLE VAEQRKLLFT GLVSGVVLVF PLNSRQDVIC IPPPEARKAI
NCMSLSKCED RLAIAYDNIV LVLDITSGDP CPVIDGPRYT FYTQLPETLS SVAILTDYRV
VYSMTNGDLF LYECATSKAF PLETHRSRVA CVEVSHKEQL VVSGSEDALL CLWDLQARKW
KFEMSYTSSY CRGVQCACFS KDDKYVYVGL KDRSILVWSV LDGTLLTVQF VHAVVNRIIP
TTSGFIAPTR HGYLIRENFQ CLSAKASPQD PLKNFKKAMW MVKSRQREEL VAAAGAPQDL
ESESAQGNET KSNKCSQVCL IV*
mutated AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLRLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWDLSDA HRSRVPAPFL DRTGLTAVSH NGSYVYFPKI GDKNKVTIWD
LAEGEEQDSL DTSSEIRCLE VAEQRKLLFT GLVSGVVLVF PLNSRQDVIC IPPPEARKAI
NCMSLSKCED RLAIAYDNIV LVLDITSGDP CPVIDGPRYT FYTQLPETLS SVAILTDYRV
VYSMTNGDLF LYECATSKAF PLETHRSRVA CVEVSHKEQL VVSGSEDALL CLWDLQARKW
KFEMSYTSSY CRGVQCACFS KDDKYVYVGL KDRSILVWSV LDGTLLTVQF VHAVVNRIIP
TTSGFIAPTR HGYLIRENFQ CLSAKASPQD PLKNFKKAMW MVKSRQREEL VAAAGAPQDL
ESESAQGNET KSNKCSQVCL IV*
speed 0.45 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: 0.999991833671765 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:16899865A>GN/A show variant in all transcripts   IGV
HGNC symbol NWD1
Ensembl transcript ID ENST00000339803
Genbank transcript ID N/A
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2399A>G
cDNA.2399A>G
g.69079A>G
AA changes H800R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 800
frameshift no
known variant Reference ID: rs2608738
databasehomozygous (G/G)heterozygousallele carriers
1000G263488751
ExAC164279979639
regulatory features H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1860.85
1.9340.838
(flanking)0.0610.582
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained690730.95mu: TTACACGCTGCGCTT ACAC|gctg
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      800LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    800LANSASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908ISASKDYTLRLWNLLTGQEKF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000048148  935LAISASKDHTLRLWSLLSGQEKV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0038397  1234DYAVAGVRKNLYVWCLQSGQLAKV
Celegans  not conserved  T05C3.2  1361LDHTIKIWNMENIFEK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
866905REPEATWD 2.might get lost (downstream of altered splice site)
908947REPEATWD 3.might get lost (downstream of altered splice site)
956994REPEATWD 4.might get lost (downstream of altered splice site)
994994CONFLICTH -> Y (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
9981037REPEATWD 5.might get lost (downstream of altered splice site)
10441082REPEATWD 6.might get lost (downstream of altered splice site)
10561056CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
10831121REPEATWD 7.might get lost (downstream of altered splice site)
11261165REPEATWD 8.might get lost (downstream of altered splice site)
11411141CONFLICTN -> S (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
11671207REPEATWD 9.might get lost (downstream of altered splice site)
11711171CONFLICTG -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
12121251REPEATWD 10.might get lost (downstream of altered splice site)
12531292REPEATWD 11.might get lost (downstream of altered splice site)
13861425REPEATWD 12.might get lost (downstream of altered splice site)
13991399CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
14311470REPEATWD 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4290 / 4290
position (AA) of stopcodon in wt / mu AA sequence 1430 / 1430
position of stopcodon in wt / mu cDNA 4290 / 4290
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 3989
theoretical NMD boundary in CDS 3938
length of CDS 4290
coding sequence (CDS) position 2399
cDNA position
(for ins/del: last normal base / first normal base)		 2399
gDNA position
(for ins/del: last normal base / first normal base)		 69079
chromosomal position
(for ins/del: last normal base / first normal base)		 16899865
original gDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered gDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
original cDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered cDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
wildtype AA sequence MDSQFHMAGE ASQSWLKAKE KQRGTSYMVA VIEWEIERSL LSSEDREQGA TVFLREIQDL
HKHILEDCAL RMVDRLADGC LDADAQNLLS SLKSHITDMH PGVLKTHRLP WSRDLVNPKN
KTHACYLKEL GEQFVVRANH QVLTRLRELD TAGQELAWLY QEIRHHLWQS SEVIQTFCGR
QELLARLGQQ LRHDDSKQHT PLVLFGPPGI GKTALMCKLA EQMPRLLGHK TVTVLRLLGT
SQMSSDARGL LKSICFQVCL AYGLPLPPAQ VLDAHTRVVQ FFHTLLHTVS CRNFESLVLL
LDAMDDLDSV RHARRVPWLP LNCPPRVHLI LSACSGALGV LDTLQRVLLD PEAYWEVKPL
SGNQGQQMIQ LLLAAARRTL SPVHTDLLWA SLPECGNPGR LRLAFEEARK WASFTVPVPL
ATTAEEATHQ LCTRLEQTHG QLLVAHVLGY IVSSRHGLSE AELKDVLSLD DEVLQDVYRD
WTPPSKELLR FPPLLWVRLR RDLGYYLARR PVDGFTLLAI AHRQLVEVVR ERYLSGSERA
KRHGVLADFF SGTWSQGTKK LITLPLVGKP LNLDRKVAPQ PLWFSHTVAN LRKLKELPYH
LLHSGRLEEL KQEVLGSMSW ISCRGISGGI EDLLDDFDLC APHLDSPEVG LVREALQLCR
PAVELRGMER SLLYTELLAR LHFFATSHPA LVGQLCQQAQ SWFQLCAHPV LVPLGGFLQP
PGGPLRATLS GCHKGITAMA WGVEEKLLVI GTQDGIMAVW DMEEQHVIHM LTGHTGEVRC
VKIFAKGTLA NSASKDYTLH LWNLLSGQEK FTIWDGGSKN PAEPQIWNLH VDEAHKVVYS
ASGSKINAWN LETAEPVFHI LGDASDPWMC MAVLASQATL LTVSRDGVVS LWSSATGKLQ
GKQHMSSIKE ETPTCAVSVQ KQGKLVTGFS NGSISLVSSK GDRLLEKLPD AVRFLVVSED
ESLLAAGFGR SVRIFLADSR GFRRFMAMDL EHEDMVETAV FGTENNLIIT GSLDALIQVW
SLSEQGTLLD ILEGVGAPVS LLARGGALVA SASPQSSSFK VWDLSDAHRS RVPAPFLDRT
GLTAVSHNGS YVYFPKIGDK NKVTIWDLAE GEEQDSLDTS SEIRCLEVAE QRKLLFTGLV
SGVVLVFPLN SRQDVICIPP PEARKAINCM SLSKCEDRLA IAYDNIVLVL DITSGDPCPV
IDGPRYTFYT QLPETLSSVA ILTDYRVVYS MTNGDLFLYE CATSKAFPLE THRSRVACVE
VSHKEQLVVS GSEDALLCLW DLQARKWKFE MSYTSSYCRG VQCACFSKDD KYVYVGLKDR
SILVWSVLDG TLLTVQFVHA VVNRIIPTTS GFIAPTRHGY LIRENFQCLS AKASPQDPLK
NFKKAMWMVK SRQREELVAA AGAPQDLESE SAQGNETKSN KCSQVCLIV*
mutated AA sequence MDSQFHMAGE ASQSWLKAKE KQRGTSYMVA VIEWEIERSL LSSEDREQGA TVFLREIQDL
HKHILEDCAL RMVDRLADGC LDADAQNLLS SLKSHITDMH PGVLKTHRLP WSRDLVNPKN
KTHACYLKEL GEQFVVRANH QVLTRLRELD TAGQELAWLY QEIRHHLWQS SEVIQTFCGR
QELLARLGQQ LRHDDSKQHT PLVLFGPPGI GKTALMCKLA EQMPRLLGHK TVTVLRLLGT
SQMSSDARGL LKSICFQVCL AYGLPLPPAQ VLDAHTRVVQ FFHTLLHTVS CRNFESLVLL
LDAMDDLDSV RHARRVPWLP LNCPPRVHLI LSACSGALGV LDTLQRVLLD PEAYWEVKPL
SGNQGQQMIQ LLLAAARRTL SPVHTDLLWA SLPECGNPGR LRLAFEEARK WASFTVPVPL
ATTAEEATHQ LCTRLEQTHG QLLVAHVLGY IVSSRHGLSE AELKDVLSLD DEVLQDVYRD
WTPPSKELLR FPPLLWVRLR RDLGYYLARR PVDGFTLLAI AHRQLVEVVR ERYLSGSERA
KRHGVLADFF SGTWSQGTKK LITLPLVGKP LNLDRKVAPQ PLWFSHTVAN LRKLKELPYH
LLHSGRLEEL KQEVLGSMSW ISCRGISGGI EDLLDDFDLC APHLDSPEVG LVREALQLCR
PAVELRGMER SLLYTELLAR LHFFATSHPA LVGQLCQQAQ SWFQLCAHPV LVPLGGFLQP
PGGPLRATLS GCHKGITAMA WGVEEKLLVI GTQDGIMAVW DMEEQHVIHM LTGHTGEVRC
VKIFAKGTLA NSASKDYTLR LWNLLSGQEK FTIWDGGSKN PAEPQIWNLH VDEAHKVVYS
ASGSKINAWN LETAEPVFHI LGDASDPWMC MAVLASQATL LTVSRDGVVS LWSSATGKLQ
GKQHMSSIKE ETPTCAVSVQ KQGKLVTGFS NGSISLVSSK GDRLLEKLPD AVRFLVVSED
ESLLAAGFGR SVRIFLADSR GFRRFMAMDL EHEDMVETAV FGTENNLIIT GSLDALIQVW
SLSEQGTLLD ILEGVGAPVS LLARGGALVA SASPQSSSFK VWDLSDAHRS RVPAPFLDRT
GLTAVSHNGS YVYFPKIGDK NKVTIWDLAE GEEQDSLDTS SEIRCLEVAE QRKLLFTGLV
SGVVLVFPLN SRQDVICIPP PEARKAINCM SLSKCEDRLA IAYDNIVLVL DITSGDPCPV
IDGPRYTFYT QLPETLSSVA ILTDYRVVYS MTNGDLFLYE CATSKAFPLE THRSRVACVE
VSHKEQLVVS GSEDALLCLW DLQARKWKFE MSYTSSYCRG VQCACFSKDD KYVYVGLKDR
SILVWSVLDG TLLTVQFVHA VVNRIIPTTS GFIAPTRHGY LIRENFQCLS AKASPQDPLK
NFKKAMWMVK SRQREELVAA AGAPQDLESE SAQGNETKSN KCSQVCLIV*
speed 0.51 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: 0.999991833671765 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:16899865A>GN/A show variant in all transcripts   IGV
HGNC symbol NWD1
Ensembl transcript ID ENST00000523826
Genbank transcript ID N/A
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2186A>G
cDNA.2874A>G
g.69079A>G
AA changes H729R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 729
frameshift no
known variant Reference ID: rs2608738
databasehomozygous (G/G)heterozygousallele carriers
1000G263488751
ExAC164279979639
regulatory features H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1860.85
1.9340.838
(flanking)0.0610.582
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained690730.95mu: TTACACGCTGCGCTT ACAC|gctg
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      729LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    729SASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908LAISASKDYTLRLWNLLTGQEKF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000048148  935SASKDHTLRLWSLLSGQEKV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0038397  1234DYAVAGVRKNLYVWCLQSGQLAKV
Celegans  not conserved  T05C3.2  1361LDHTIKIWNMENIFEK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
866905REPEATWD 2.might get lost (downstream of altered splice site)
908947REPEATWD 3.might get lost (downstream of altered splice site)
956994REPEATWD 4.might get lost (downstream of altered splice site)
994994CONFLICTH -> Y (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
9981037REPEATWD 5.might get lost (downstream of altered splice site)
10441082REPEATWD 6.might get lost (downstream of altered splice site)
10561056CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
10831121REPEATWD 7.might get lost (downstream of altered splice site)
11261165REPEATWD 8.might get lost (downstream of altered splice site)
11411141CONFLICTN -> S (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
11671207REPEATWD 9.might get lost (downstream of altered splice site)
11711171CONFLICTG -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
12121251REPEATWD 10.might get lost (downstream of altered splice site)
12531292REPEATWD 11.might get lost (downstream of altered splice site)
13861425REPEATWD 12.might get lost (downstream of altered splice site)
13991399CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
14311470REPEATWD 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4077 / 4077
position (AA) of stopcodon in wt / mu AA sequence 1359 / 1359
position of stopcodon in wt / mu cDNA 4765 / 4765
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 689 / 689
chromosome 19
strand 1
last intron/exon boundary 4464
theoretical NMD boundary in CDS 3725
length of CDS 4077
coding sequence (CDS) position 2186
cDNA position
(for ins/del: last normal base / first normal base)		 2874
gDNA position
(for ins/del: last normal base / first normal base)		 69079
chromosomal position
(for ins/del: last normal base / first normal base)		 16899865
original gDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered gDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
original cDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered cDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
wildtype AA sequence MVDRLADGCL DADAQNLLSS LKSHITDMHP GVLKTHRLPW SRDLVNPKNK THACYLKELG
EQFVVRANHQ VLTRLRELDT AGQELAWLYQ EIRHHLWQSS EVIQTFCGRQ ELLARLGQQL
RHDDSKQHTP LVLFGPPGIG KTALMCKLAE QMPRLLGHKT VTVLRLLGTS QMSSDARGLL
KSICFQVCLA YGLPLPPAQV LDAHTRVVQF FHTLLHTVSC RNFESLVLLL DAMDDLDSVR
HARRVPWLPL NCPPRVHLIL SACSGALGVL DTLQRVLLDP EAYWEVKPLS GNQGQQMIQL
LLAAARRTLS PVHTDLLWAS LPECGNPGRL RLAFEEARKW ASFTVPVPLA TTAEEATHQL
CTRLEQTHGQ LLVAHVLGYI VSSRHGLSEA ELKDVLSLDD EVLQDVYRDW TPPSKELLRF
PPLLWVRLRR DLGYYLARRP VDGFTLLAIA HRQLVEVVRE RYLSGSERAK RHGVLADFFS
GTWSQGTKKL ITLPLVGKPL NLDRKVAPQP LWFSHTVANL RKLKELPYHL LHSGRLEELK
QEVLGSMSWI SCRGISGGIE DLLDDFDLCA PHLDSPEVGL VREALQLCRP AVELRGMERS
LLYTELLARL HFFATSHPAL VGQLCQQAQS WFQLCAHPVL VPLGGFLQPP GGPLRATLSG
CHKGITAMAW GVEEKLLVIG TQDGIMAVWD MEEQHVIHML TGHTGEVRCV KIFAKGTLAN
SASKDYTLHL WNLLSGQEKF TIWDGGSKNP AEPQIWNLHV DEAHKVVYSA SGSKINAWNL
ETAEPVFHIL GDASDPWMCM AVLASQATLL TVSRDGVVSL WSSATGKLQG KQHMSSIKEE
TPTCAVSVQK QGKLVTGFSN GSISLVSSKG DRLLEKLPDA VRFLVVSEDE SLLAAGFGRS
VRIFLADSRG FRRFMAMDLE HEDMVETAVF GTENNLIITG SLDALIQVWS LSEQGTLLDI
LEGVGAPVSL LARGGALVAS ASPQSSSFKV WDLSDAHRSR VPAPFLDRTG LTAVSHNGSY
VYFPKIGDKN KVTIWDLAEG EEQDSLDTSS EIRCLEVAEQ RKLLFTGLVS GVVLVFPLNS
RQDVICIPPP EARKAINCMS LSKCEDRLAI AYDNIVLVLD ITSGDPCPVI DGPRYTFYTQ
LPETLSSVAI LTDYRVVYSM TNGDLFLYEC ATSKAFPLET HRSRVACVEV SHKEQLVVSG
SEDALLCLWD LQARKWKFEM SYTSSYCRGV QCACFSKDDK YVYVGLKDRS ILVWSVLDGT
LLTVQFVHAV VNRIIPTTSG FIAPTRHGYL IRENFQCLSA KASPQDPLKN FKKAMWMVKS
RQREELVAAA GAPQDLESES AQGNETKSNK CSQVCLIV*
mutated AA sequence MVDRLADGCL DADAQNLLSS LKSHITDMHP GVLKTHRLPW SRDLVNPKNK THACYLKELG
EQFVVRANHQ VLTRLRELDT AGQELAWLYQ EIRHHLWQSS EVIQTFCGRQ ELLARLGQQL
RHDDSKQHTP LVLFGPPGIG KTALMCKLAE QMPRLLGHKT VTVLRLLGTS QMSSDARGLL
KSICFQVCLA YGLPLPPAQV LDAHTRVVQF FHTLLHTVSC RNFESLVLLL DAMDDLDSVR
HARRVPWLPL NCPPRVHLIL SACSGALGVL DTLQRVLLDP EAYWEVKPLS GNQGQQMIQL
LLAAARRTLS PVHTDLLWAS LPECGNPGRL RLAFEEARKW ASFTVPVPLA TTAEEATHQL
CTRLEQTHGQ LLVAHVLGYI VSSRHGLSEA ELKDVLSLDD EVLQDVYRDW TPPSKELLRF
PPLLWVRLRR DLGYYLARRP VDGFTLLAIA HRQLVEVVRE RYLSGSERAK RHGVLADFFS
GTWSQGTKKL ITLPLVGKPL NLDRKVAPQP LWFSHTVANL RKLKELPYHL LHSGRLEELK
QEVLGSMSWI SCRGISGGIE DLLDDFDLCA PHLDSPEVGL VREALQLCRP AVELRGMERS
LLYTELLARL HFFATSHPAL VGQLCQQAQS WFQLCAHPVL VPLGGFLQPP GGPLRATLSG
CHKGITAMAW GVEEKLLVIG TQDGIMAVWD MEEQHVIHML TGHTGEVRCV KIFAKGTLAN
SASKDYTLRL WNLLSGQEKF TIWDGGSKNP AEPQIWNLHV DEAHKVVYSA SGSKINAWNL
ETAEPVFHIL GDASDPWMCM AVLASQATLL TVSRDGVVSL WSSATGKLQG KQHMSSIKEE
TPTCAVSVQK QGKLVTGFSN GSISLVSSKG DRLLEKLPDA VRFLVVSEDE SLLAAGFGRS
VRIFLADSRG FRRFMAMDLE HEDMVETAVF GTENNLIITG SLDALIQVWS LSEQGTLLDI
LEGVGAPVSL LARGGALVAS ASPQSSSFKV WDLSDAHRSR VPAPFLDRTG LTAVSHNGSY
VYFPKIGDKN KVTIWDLAEG EEQDSLDTSS EIRCLEVAEQ RKLLFTGLVS GVVLVFPLNS
RQDVICIPPP EARKAINCMS LSKCEDRLAI AYDNIVLVLD ITSGDPCPVI DGPRYTFYTQ
LPETLSSVAI LTDYRVVYSM TNGDLFLYEC ATSKAFPLET HRSRVACVEV SHKEQLVVSG
SEDALLCLWD LQARKWKFEM SYTSSYCRGV QCACFSKDDK YVYVGLKDRS ILVWSVLDGT
LLTVQFVHAV VNRIIPTTSG FIAPTRHGYL IRENFQCLSA KASPQDPLKN FKKAMWMVKS
RQREELVAAA GAPQDLESES AQGNETKSNK CSQVCLIV*
speed 1.50 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: 0.999988969487165 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:16899865A>GN/A show variant in all transcripts   IGV
HGNC symbol NWD1
Ensembl transcript ID ENST00000524140
Genbank transcript ID NM_001007525
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2804A>G
cDNA.3222A>G
g.69079A>G
AA changes H935R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 935
frameshift no
known variant Reference ID: rs2608738
databasehomozygous (G/G)heterozygousallele carriers
1000G263488751
ExAC164279979639
regulatory features H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1860.85
1.9340.838
(flanking)0.0610.582
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained690730.95mu: TTACACGCTGCGCTT ACAC|gctg
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      935LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    935LANSASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908LAISASKDYTLRLWNLLTGQEKF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000048148  935LAISASKDHTLRLWSLLSGQEKV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0038397  1234DYAVAGVRKNLYVWCLQSGQLAKV
Celegans  not conserved  T05C3.2  1361LDHTIKIWNMENIFEK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
908947REPEATWD 3.lost
956994REPEATWD 4.might get lost (downstream of altered splice site)
994994CONFLICTH -> Y (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
9981037REPEATWD 5.might get lost (downstream of altered splice site)
10441082REPEATWD 6.might get lost (downstream of altered splice site)
10561056CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
10831121REPEATWD 7.might get lost (downstream of altered splice site)
11261165REPEATWD 8.might get lost (downstream of altered splice site)
11411141CONFLICTN -> S (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
11671207REPEATWD 9.might get lost (downstream of altered splice site)
11711171CONFLICTG -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
12121251REPEATWD 10.might get lost (downstream of altered splice site)
12531292REPEATWD 11.might get lost (downstream of altered splice site)
13861425REPEATWD 12.might get lost (downstream of altered splice site)
13991399CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
14311470REPEATWD 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4299 / 4299
position (AA) of stopcodon in wt / mu AA sequence 1433 / 1433
position of stopcodon in wt / mu cDNA 4717 / 4717
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 419 / 419
chromosome 19
strand 1
last intron/exon boundary 4706
theoretical NMD boundary in CDS 4237
length of CDS 4299
coding sequence (CDS) position 2804
cDNA position
(for ins/del: last normal base / first normal base)		 3222
gDNA position
(for ins/del: last normal base / first normal base)		 69079
chromosomal position
(for ins/del: last normal base / first normal base)		 16899865
original gDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered gDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
original cDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered cDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
wildtype AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLHLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTA PC*
mutated AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLRLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTA PC*
speed 1.32 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: 0.999988969487165 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:16899865A>GN/A show variant in all transcripts   IGV
HGNC symbol NWD1
Ensembl transcript ID ENST00000552788
Genbank transcript ID N/A
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2804A>G
cDNA.2804A>G
g.69079A>G
AA changes H935R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 935
frameshift no
known variant Reference ID: rs2608738
databasehomozygous (G/G)heterozygousallele carriers
1000G263488751
ExAC164279979639
regulatory features H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1860.85
1.9340.838
(flanking)0.0610.582
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained690730.95mu: TTACACGCTGCGCTT ACAC|gctg
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      935LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    935LANSASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908LAISASKDYTLRLWNLLTGQEKF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000048148  935LAISASKDHTLRLWSLLSGQEKV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0038397  1234DYAVAGVRKNLYVWCLQSGQLAKV
Celegans  not conserved  T05C3.2  1361LDHTIKIWNMENIFEK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
908947REPEATWD 3.lost
956994REPEATWD 4.might get lost (downstream of altered splice site)
994994CONFLICTH -> Y (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
9981037REPEATWD 5.might get lost (downstream of altered splice site)
10441082REPEATWD 6.might get lost (downstream of altered splice site)
10561056CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
10831121REPEATWD 7.might get lost (downstream of altered splice site)
11261165REPEATWD 8.might get lost (downstream of altered splice site)
11411141CONFLICTN -> S (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
11671207REPEATWD 9.might get lost (downstream of altered splice site)
11711171CONFLICTG -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
12121251REPEATWD 10.might get lost (downstream of altered splice site)
12531292REPEATWD 11.might get lost (downstream of altered splice site)
13861425REPEATWD 12.might get lost (downstream of altered splice site)
13991399CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
14311470REPEATWD 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4695 / 4695
position (AA) of stopcodon in wt / mu AA sequence 1565 / 1565
position of stopcodon in wt / mu cDNA 4695 / 4695
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 4394
theoretical NMD boundary in CDS 4343
length of CDS 4695
coding sequence (CDS) position 2804
cDNA position
(for ins/del: last normal base / first normal base)		 2804
gDNA position
(for ins/del: last normal base / first normal base)		 69079
chromosomal position
(for ins/del: last normal base / first normal base)		 16899865
original gDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered gDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
original cDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered cDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
wildtype AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLHLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTS SYCRGVQCAC
FSKDDKYVYV GLKDRSILVW SVLDGTLLTV QFVHAVVNRI IPTTSGFIAP TRHGYLIREN
FQCLSAKASP QDPLKNFKKA MWMVKSRQRE ELVAAAGAPQ DLESESAQGN ETKSNKCSQV
CLIV*
mutated AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLRLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTS SYCRGVQCAC
FSKDDKYVYV GLKDRSILVW SVLDGTLLTV QFVHAVVNRI IPTTSGFIAP TRHGYLIREN
FQCLSAKASP QDPLKNFKKA MWMVKSRQRE ELVAAAGAPQ DLESESAQGN ETKSNKCSQV
CLIV*
speed 1.36 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: 0.999988969487165 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:16899865A>GN/A show variant in all transcripts   IGV
HGNC symbol NWD1
Ensembl transcript ID ENST00000379808
Genbank transcript ID N/A
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2804A>G
cDNA.2807A>G
g.69079A>G
AA changes H935R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 935
frameshift no
known variant Reference ID: rs2608738
databasehomozygous (G/G)heterozygousallele carriers
1000G263488751
ExAC164279979639
regulatory features H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1860.85
1.9340.838
(flanking)0.0610.582
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained690730.95mu: TTACACGCTGCGCTT ACAC|gctg
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      935LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    935LANSASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908LAISASKDYTLRLWNLLTGQEKF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000048148  935LAISASKDHTLRLWSLLSGQEKV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0038397  1234DYAVAGVRKNLYVWCLQSGQLAKV
Celegans  not conserved  T05C3.2  1361LDHTIKIWNMENIFEK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
908947REPEATWD 3.lost
956994REPEATWD 4.might get lost (downstream of altered splice site)
994994CONFLICTH -> Y (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
9981037REPEATWD 5.might get lost (downstream of altered splice site)
10441082REPEATWD 6.might get lost (downstream of altered splice site)
10561056CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
10831121REPEATWD 7.might get lost (downstream of altered splice site)
11261165REPEATWD 8.might get lost (downstream of altered splice site)
11411141CONFLICTN -> S (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
11671207REPEATWD 9.might get lost (downstream of altered splice site)
11711171CONFLICTG -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
12121251REPEATWD 10.might get lost (downstream of altered splice site)
12531292REPEATWD 11.might get lost (downstream of altered splice site)
13861425REPEATWD 12.might get lost (downstream of altered splice site)
13991399CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
14311470REPEATWD 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4299 / 4299
position (AA) of stopcodon in wt / mu AA sequence 1433 / 1433
position of stopcodon in wt / mu cDNA 4302 / 4302
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 4 / 4
chromosome 19
strand 1
last intron/exon boundary 4291
theoretical NMD boundary in CDS 4237
length of CDS 4299
coding sequence (CDS) position 2804
cDNA position
(for ins/del: last normal base / first normal base)		 2807
gDNA position
(for ins/del: last normal base / first normal base)		 69079
chromosomal position
(for ins/del: last normal base / first normal base)		 16899865
original gDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered gDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
original cDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered cDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
wildtype AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLHLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTA PC*
mutated AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLRLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTA PC*
speed 1.34 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

Problems