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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000359052
Querying Taster for transcript #2: ENST00000457823
Querying Taster for transcript #3: ENST00000354268
MT speed 0 s - this script 3.875429 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SMARCAD1polymorphism_automatic5.94102544937414e-12simple_aaeaffectedV301Asingle base exchangers7439869show file
SMARCAD1polymorphism_automatic5.94102544937414e-12simple_aaeaffectedV301Asingle base exchangers7439869show file
SMARCAD1polymorphism_automatic5.94102544937414e-12simple_aaeaffectedV301Asingle base exchangers7439869show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999994059 (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) chr4:95173779T>CN/A show variant in all transcripts   IGV
HGNC symbol SMARCAD1
Ensembl transcript ID ENST00000359052
Genbank transcript ID NM_001128430
UniProt peptide Q9H4L7
alteration type single base exchange
alteration region CDS
DNA changes c.902T>C
cDNA.1076T>C
g.45018T>C
AA changes V301A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 301
frameshift no
known variant Reference ID: rs7439869
databasehomozygous (C/C)heterozygousallele carriers
1000G13918772268
ExAC19238-570913529
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1590.063
1.7370.198
(flanking)-0.3920.202
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased45009wt: 0.58 / mu: 0.78wt: AGATATGCAATATGT
mu: AGATATGCAATATGC		 ATAT|gcaa
Donor marginally increased45021wt: 0.9771 / mu: 0.9787 (marginal change - not scored)wt: TGTATCACAAAGTGA
mu: TGCATCACAAAGTGA		 TATC|acaa
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      301KVFAEDQDMQYVSQSEVPNGKEVS
mutated  not conserved    301ASQSEVPNGKEV
Ptroglodytes  not conserved  ENSPTRG00000023126  301ASQSEVPNGKEV
Mmulatta  not conserved  ENSMMUG00000022242  301ASQSEVPNGKEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029920  297CASQSEVTNGKEV
Ggallus  not conserved  ENSGALG00000010400  235RVFAEDNDGVGFPSPSEVSNWTEV
Trubripes  not conserved  ENSTRUG00000012662  253FSSPEMEEKKPK
Drerio  not conserved  ENSDARG00000014041  226TDTSSPENQKSKQKSKSSHSKEKTDKITQRPSGSSS
Dmelanogaster  all conserved  FBgn0032157  130---------RYLRENCKPKG---
Celegans  all conserved  M03C11.8  197IVIDDESEDDFINDEEISEKGSGKGSE
Xtropicalis  not conserved  ENSXETG00000019214  179ALQNAAKKEVSNGKEF
protein features
start (aa)end (aa)featuredetails 
302302MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
408408MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
509677DOMAINHelicase ATP-binding.might get lost (downstream of altered splice site)
521529NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
528528MUTAGENK->R: No effect on subcellular localization and on histone deacetylation.might get lost (downstream of altered splice site)
628631MOTIFDEGH box.might get lost (downstream of altered splice site)
721738MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
8581010DOMAINHelicase C-terminal.might get lost (downstream of altered splice site)
897904NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
937937CONFLICTN -> D (in Ref. 3; BAB14759).might get lost (downstream of altered splice site)
10051008MOTIFDEGD box.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3087 / 3087
position (AA) of stopcodon in wt / mu AA sequence 1029 / 1029
position of stopcodon in wt / mu cDNA 3261 / 3261
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 4
strand 1
last intron/exon boundary 3200
theoretical NMD boundary in CDS 2975
length of CDS 3087
coding sequence (CDS) position 902
cDNA position
(for ins/del: last normal base / first normal base)		 1076
gDNA position
(for ins/del: last normal base / first normal base)		 45018
chromosomal position
(for ins/del: last normal base / first normal base)		 95173779
original gDNA sequence snippet ATATACAGATATGCAATATGTATCACAAAGTGAGGTTCCAA
altered gDNA sequence snippet ATATACAGATATGCAATATGCATCACAAAGTGAGGTTCCAA
original cDNA sequence snippet AGACCAAGATATGCAATATGTATCACAAAGTGAGGTTCCAA
altered cDNA sequence snippet AGACCAAGATATGCAATATGCATCACAAAGTGAGGTTCCAA
wildtype AA sequence MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS RANTPDSDIT
EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED VVSPNCSNTV QEKTFNKDTV
IIVSEPSEDE ESQGLPTMAR RNDDISELED LSELEDLKDA KLQTLKELFP QRSDNDLLKL
IESTSTMDGA IAAALLMFGD AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN
ESAESSSNWE KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
VSQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN PKRVVEDSEY
DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE LTLIPQCSQK KAQKITELRP
FNSWEALFTK MSKTNGLSED LIWHCKTLIQ ERDVVIRLMN KCEDISNKLT KQVTMLTGNG
GGWNIEQPSI LNQSLSLKPY QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY
QEGNNGPHLI VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN NRLLLTGTPV
QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ SIYEKERIAH AKQIIKPFIL
RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL YLGLFNRLKK SINNLVTEKN TEMCNVMMQL
RKMANHPLLH RQYYTAEKLK EMSQLMLKEP THCEANPDLI FEDMEVMTDF ELHVLCKQYR
HINNFQLDMD LILDSGKFRV LGCILSELKQ KGDRVVLFSQ FTMMLDILEV LLKHHQHRYL
RLDGKTQISE RIHLIDEFNT DMDIFVFLLS TKAGGLGINL TSANVVILHD IDCNPYNDKQ
AEDRCHRVGQ TKEVLVIKLI SQGTIEESML KINQQKLKLE QDMTTVDEGD EGSMPADIAT
LLKTSMGL*
mutated AA sequence MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS RANTPDSDIT
EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED VVSPNCSNTV QEKTFNKDTV
IIVSEPSEDE ESQGLPTMAR RNDDISELED LSELEDLKDA KLQTLKELFP QRSDNDLLKL
IESTSTMDGA IAAALLMFGD AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN
ESAESSSNWE KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
ASQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN PKRVVEDSEY
DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE LTLIPQCSQK KAQKITELRP
FNSWEALFTK MSKTNGLSED LIWHCKTLIQ ERDVVIRLMN KCEDISNKLT KQVTMLTGNG
GGWNIEQPSI LNQSLSLKPY QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY
QEGNNGPHLI VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN NRLLLTGTPV
QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ SIYEKERIAH AKQIIKPFIL
RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL YLGLFNRLKK SINNLVTEKN TEMCNVMMQL
RKMANHPLLH RQYYTAEKLK EMSQLMLKEP THCEANPDLI FEDMEVMTDF ELHVLCKQYR
HINNFQLDMD LILDSGKFRV LGCILSELKQ KGDRVVLFSQ FTMMLDILEV LLKHHQHRYL
RLDGKTQISE RIHLIDEFNT DMDIFVFLLS TKAGGLGINL TSANVVILHD IDCNPYNDKQ
AEDRCHRVGQ TKEVLVIKLI SQGTIEESML KINQQKLKLE QDMTTVDEGD EGSMPADIAT
LLKTSMGL*
speed 0.80 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: 0.999999999994059 (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) chr4:95173779T>CN/A show variant in all transcripts   IGV
HGNC symbol SMARCAD1
Ensembl transcript ID ENST00000457823
Genbank transcript ID N/A
UniProt peptide Q9H4L7
alteration type single base exchange
alteration region CDS
DNA changes c.902T>C
cDNA.1177T>C
g.45018T>C
AA changes V301A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 301
frameshift no
known variant Reference ID: rs7439869
databasehomozygous (C/C)heterozygousallele carriers
1000G13918772268
ExAC19238-570913529
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1590.063
1.7370.198
(flanking)-0.3920.202
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased45009wt: 0.58 / mu: 0.78wt: AGATATGCAATATGT
mu: AGATATGCAATATGC		 ATAT|gcaa
Donor marginally increased45021wt: 0.9771 / mu: 0.9787 (marginal change - not scored)wt: TGTATCACAAAGTGA
mu: TGCATCACAAAGTGA		 TATC|acaa
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      301KVFAEDQDMQYVSQSEVPNGKEVS
mutated  not conserved    301ASQSEVPNGKEV
Ptroglodytes  not conserved  ENSPTRG00000023126  301ASQSEVPNGKEV
Mmulatta  not conserved  ENSMMUG00000022242  301ASQSEVPNGKEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029920  297CASQSEVTNGKEV
Ggallus  not conserved  ENSGALG00000010400  235RVFAEDNDGVGFPSPSEVSNWTEV
Trubripes  not conserved  ENSTRUG00000012662  253FSSPEMEEKKPK
Drerio  not conserved  ENSDARG00000014041  226TDTSSPENQKSKQKSKSSHSKEKTDKITQRPSGSSS
Dmelanogaster  all conserved  FBgn0032157  130---------RYLRENCKPKG---
Celegans  all conserved  M03C11.8  197IVIDDESEDDFINDEEISEKGSGKGSE
Xtropicalis  not conserved  ENSXETG00000019214  179ALQNAAKKEVSNGKEF
protein features
start (aa)end (aa)featuredetails 
302302MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
408408MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
509677DOMAINHelicase ATP-binding.might get lost (downstream of altered splice site)
521529NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
528528MUTAGENK->R: No effect on subcellular localization and on histone deacetylation.might get lost (downstream of altered splice site)
628631MOTIFDEGH box.might get lost (downstream of altered splice site)
721738MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
8581010DOMAINHelicase C-terminal.might get lost (downstream of altered splice site)
897904NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
937937CONFLICTN -> D (in Ref. 3; BAB14759).might get lost (downstream of altered splice site)
10051008MOTIFDEGD box.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3087 / 3087
position (AA) of stopcodon in wt / mu AA sequence 1029 / 1029
position of stopcodon in wt / mu cDNA 3362 / 3362
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 276 / 276
chromosome 4
strand 1
last intron/exon boundary 3301
theoretical NMD boundary in CDS 2975
length of CDS 3087
coding sequence (CDS) position 902
cDNA position
(for ins/del: last normal base / first normal base)		 1177
gDNA position
(for ins/del: last normal base / first normal base)		 45018
chromosomal position
(for ins/del: last normal base / first normal base)		 95173779
original gDNA sequence snippet ATATACAGATATGCAATATGTATCACAAAGTGAGGTTCCAA
altered gDNA sequence snippet ATATACAGATATGCAATATGCATCACAAAGTGAGGTTCCAA
original cDNA sequence snippet AGACCAAGATATGCAATATGTATCACAAAGTGAGGTTCCAA
altered cDNA sequence snippet AGACCAAGATATGCAATATGCATCACAAAGTGAGGTTCCAA
wildtype AA sequence MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS RANTPDSDIT
EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED VVSPNCSNTV QEKTFNKDTV
IIVSEPSEDE ESQGLPTMAR RNDDISELED LSELEDLKDA KLQTLKELFP QRSDNDLLKL
IESTSTMDGA IAAALLMFGD AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN
ESAESSSNWE KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
VSQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN PKRVVEDSEY
DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE LTLIPQCSQK KAQKITELRP
FNSWEALFTK MSKTNGLSED LIWHCKTLIQ ERDVVIRLMN KCEDISNKLT KQVTMLTGNG
GGWNIEQPSI LNQSLSLKPY QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY
QEGNNGPHLI VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN NRLLLTGTPV
QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ SIYEKERIAH AKQIIKPFIL
RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL YLGLFNRLKK SINNLVTEKN TEMCNVMMQL
RKMANHPLLH RQYYTAEKLK EMSQLMLKEP THCEANPDLI FEDMEVMTDF ELHVLCKQYR
HINNFQLDMD LILDSGKFRV LGCILSELKQ KGDRVVLFSQ FTMMLDILEV LLKHHQHRYL
RLDGKTQISE RIHLIDEFNT DMDIFVFLLS TKAGGLGINL TSANVVILHD IDCNPYNDKQ
AEDRCHRVGQ TKEVLVIKLI SQGTIEESML KINQQKLKLE QDMTTVDEGD EGSMPADIAT
LLKTSMGL*
mutated AA sequence MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS RANTPDSDIT
EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED VVSPNCSNTV QEKTFNKDTV
IIVSEPSEDE ESQGLPTMAR RNDDISELED LSELEDLKDA KLQTLKELFP QRSDNDLLKL
IESTSTMDGA IAAALLMFGD AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN
ESAESSSNWE KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
ASQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN PKRVVEDSEY
DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE LTLIPQCSQK KAQKITELRP
FNSWEALFTK MSKTNGLSED LIWHCKTLIQ ERDVVIRLMN KCEDISNKLT KQVTMLTGNG
GGWNIEQPSI LNQSLSLKPY QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY
QEGNNGPHLI VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN NRLLLTGTPV
QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ SIYEKERIAH AKQIIKPFIL
RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL YLGLFNRLKK SINNLVTEKN TEMCNVMMQL
RKMANHPLLH RQYYTAEKLK EMSQLMLKEP THCEANPDLI FEDMEVMTDF ELHVLCKQYR
HINNFQLDMD LILDSGKFRV LGCILSELKQ KGDRVVLFSQ FTMMLDILEV LLKHHQHRYL
RLDGKTQISE RIHLIDEFNT DMDIFVFLLS TKAGGLGINL TSANVVILHD IDCNPYNDKQ
AEDRCHRVGQ TKEVLVIKLI SQGTIEESML KINQQKLKLE QDMTTVDEGD EGSMPADIAT
LLKTSMGL*
speed 0.84 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: 0.999999999994059 (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) chr4:95173779T>CN/A show variant in all transcripts   IGV
HGNC symbol SMARCAD1
Ensembl transcript ID ENST00000354268
Genbank transcript ID NM_001128429
UniProt peptide Q9H4L7
alteration type single base exchange
alteration region CDS
DNA changes c.902T>C
cDNA.975T>C
g.45018T>C
AA changes V301A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 301
frameshift no
known variant Reference ID: rs7439869
databasehomozygous (C/C)heterozygousallele carriers
1000G13918772268
ExAC19238-570913529
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1590.063
1.7370.198
(flanking)-0.3920.202
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased45009wt: 0.58 / mu: 0.78wt: AGATATGCAATATGT
mu: AGATATGCAATATGC		 ATAT|gcaa
Donor marginally increased45021wt: 0.9771 / mu: 0.9787 (marginal change - not scored)wt: TGTATCACAAAGTGA
mu: TGCATCACAAAGTGA		 TATC|acaa
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      301KVFAEDQDMQYVSQSEVPNGKEVS
mutated  not conserved    301ASQSEVPNGKEV
Ptroglodytes  not conserved  ENSPTRG00000023126  301ASQSEVPNGKEV
Mmulatta  not conserved  ENSMMUG00000022242  301ASQSEVPNGKEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029920  297CASQSEVTNGKEV
Ggallus  not conserved  ENSGALG00000010400  235RVFAEDNDGVGFPSPSEVSNWTEV
Trubripes  not conserved  ENSTRUG00000012662  253FSSPEMEEKKPK
Drerio  not conserved  ENSDARG00000014041  226TDTSSPENQKSKQKSKSSHSKEKTDKITQRPSGSSS
Dmelanogaster  all conserved  FBgn0032157  130---------RYLRENCKPKG---
Celegans  all conserved  M03C11.8  197IVIDDESEDDFINDEEISEKGSGKGSE
Xtropicalis  not conserved  ENSXETG00000019214  179ALQNAAKKEVSNGKEF
protein features
start (aa)end (aa)featuredetails 
302302MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
408408MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
509677DOMAINHelicase ATP-binding.might get lost (downstream of altered splice site)
521529NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
528528MUTAGENK->R: No effect on subcellular localization and on histone deacetylation.might get lost (downstream of altered splice site)
628631MOTIFDEGH box.might get lost (downstream of altered splice site)
721738MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
8581010DOMAINHelicase C-terminal.might get lost (downstream of altered splice site)
897904NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
937937CONFLICTN -> D (in Ref. 3; BAB14759).might get lost (downstream of altered splice site)
10051008MOTIFDEGD box.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3081 / 3081
position (AA) of stopcodon in wt / mu AA sequence 1027 / 1027
position of stopcodon in wt / mu cDNA 3154 / 3154
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 74 / 74
chromosome 4
strand 1
last intron/exon boundary 3093
theoretical NMD boundary in CDS 2969
length of CDS 3081
coding sequence (CDS) position 902
cDNA position
(for ins/del: last normal base / first normal base)		 975
gDNA position
(for ins/del: last normal base / first normal base)		 45018
chromosomal position
(for ins/del: last normal base / first normal base)		 95173779
original gDNA sequence snippet ATATACAGATATGCAATATGTATCACAAAGTGAGGTTCCAA
altered gDNA sequence snippet ATATACAGATATGCAATATGCATCACAAAGTGAGGTTCCAA
original cDNA sequence snippet AGACCAAGATATGCAATATGTATCACAAAGTGAGGTTCCAA
altered cDNA sequence snippet AGACCAAGATATGCAATATGCATCACAAAGTGAGGTTCCAA
wildtype AA sequence MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS RANTPDSDIT
EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED VVSPNCSNTV QEKTFNKDTV
IIVSEPSEDE ESQGLPTMAR RNDDISELED LSELEDLKDA KLQTLKELFP QRSDNDLLKL
IESTSTMDGA IAAALLMFGD AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN
ESAESSSNWE KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
VSQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN PKRVVEDSEY
DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE LTLIPQCSQK KAQKITELRP
FNSWEALFTK MSKTNGLSED LIWHCKTLIQ ERDVVIRLMN KCEDISNKLT KQVTMLTGNG
GGWNIEQPSI LNQSLSLKPY QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY
QEGNNGPHLI VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN NRLLLTGTPV
QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ SIYEKERIAH AKQIIKPFIL
RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL YLGLFNRLKK SINNLEKNTE MCNVMMQLRK
MANHPLLHRQ YYTAEKLKEM SQLMLKEPTH CEANPDLIFE DMEVMTDFEL HVLCKQYRHI
NNFQLDMDLI LDSGKFRVLG CILSELKQKG DRVVLFSQFT MMLDILEVLL KHHQHRYLRL
DGKTQISERI HLIDEFNTDM DIFVFLLSTK AGGLGINLTS ANVVILHDID CNPYNDKQAE
DRCHRVGQTK EVLVIKLISQ GTIEESMLKI NQQKLKLEQD MTTVDEGDEG SMPADIATLL
KTSMGL*
mutated AA sequence MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS RANTPDSDIT
EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED VVSPNCSNTV QEKTFNKDTV
IIVSEPSEDE ESQGLPTMAR RNDDISELED LSELEDLKDA KLQTLKELFP QRSDNDLLKL
IESTSTMDGA IAAALLMFGD AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN
ESAESSSNWE KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
ASQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN PKRVVEDSEY
DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE LTLIPQCSQK KAQKITELRP
FNSWEALFTK MSKTNGLSED LIWHCKTLIQ ERDVVIRLMN KCEDISNKLT KQVTMLTGNG
GGWNIEQPSI LNQSLSLKPY QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY
QEGNNGPHLI VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN NRLLLTGTPV
QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ SIYEKERIAH AKQIIKPFIL
RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL YLGLFNRLKK SINNLEKNTE MCNVMMQLRK
MANHPLLHRQ YYTAEKLKEM SQLMLKEPTH CEANPDLIFE DMEVMTDFEL HVLCKQYRHI
NNFQLDMDLI LDSGKFRVLG CILSELKQKG DRVVLFSQFT MMLDILEVLL KHHQHRYLRL
DGKTQISERI HLIDEFNTDM DIFVFLLSTK AGGLGINLTS ANVVILHDID CNPYNDKQAE
DRCHRVGQTK EVLVIKLISQ GTIEESMLKI NQQKLKLEQD MTTVDEGDEG SMPADIATLL
KTSMGL*
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
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Problems