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: ENST00000343455
Querying Taster for transcript #2: ENST00000526495
Querying Taster for transcript #3: ENST00000527414
Querying Taster for transcript #4: ENST00000556045
Querying Taster for transcript #5: ENST00000393063
Querying Taster for transcript #6: ENST00000541352
MT speed 0 s - this script 8.795698 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DICER1disease_causing_automatic0.999999999445641simple_aaeaffected0L1583Rsingle base exchangers137852976show file
DICER1disease_causing_automatic0.999999999445641simple_aaeaffected0L1583Rsingle base exchangers137852976show file
DICER1disease_causing_automatic0.999999999445641simple_aaeaffected0L1583Rsingle base exchangers137852976show file
DICER1disease_causing_automatic0.999999999445641simple_aaeaffected0L1583Rsingle base exchangers137852976show file
DICER1disease_causing_automatic0.999999999445641simple_aaeaffected0L1583Rsingle base exchangers137852976show file
DICER1disease_causing_automatic0.999999999743618simple_aaeaffected0L481Rsingle base exchangers137852976show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999445641 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM093987)
  • known disease mutation: rs4468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:95562509A>CN/A show variant in all transcripts   IGV
HGNC symbol DICER1
Ensembl transcript ID ENST00000343455
Genbank transcript ID NM_177438
UniProt peptide Q9UPY3
alteration type single base exchange
alteration region CDS
DNA changes c.4748T>G
cDNA.4986T>G
g.61839T>G
AA changes L1583R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1583
frameshift no
known variant Reference ID: rs137852976
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4468 (pathogenic for Pleuropulmonary blastoma|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.661
4.8051
(flanking)5.8011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased61842wt: 0.8690 / mu: 0.8802 (marginal change - not scored)wt: GGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGGTGC
mu: GGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGGTGC
 tctg|TTCA
Acc gained618380.49mu: AGAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAG ttcc|GCTG
distance from splice site 348
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1583TSCGERAAQLFLCSLGLKVLPVIK
mutated  not conserved    1583TSCGERAAQLFRCSLGLKVLPVI
Ptroglodytes  all identical  ENSPTRG00000023484  1583TSCGERAAQLFLCSLGLKVLPVI
Mmulatta  all identical  ENSMMUG00000023305  1581TSCGERAAQLFLCSLGLKVLPVI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000041415  1569TSCGERAAQLFLCSLGLKVLPVI
Ggallus  all identical  ENSGALG00000010999  1586TSCGERAAQLFLCSLGLKVLPVI
Trubripes  all identical  ENSTRUG00000006156  1582TSCGERAAQMFLCSLGLKVSPNL
Drerio  all identical  ENSDARG00000001129  1559TSCGERAAQLFLCSLGLKVLPPE
Dmelanogaster  all conserved  FBgn0039016  1927IECGPRGALLFMAWLGVRVLPIT
Celegans  all conserved  K12H4.8  1532LGPNPTLKVMNWMGLKVIQKD
Xtropicalis  all identical  ENSXETG00000023315  1563TSCGERAAQLFLCSLGLKVLPEV
protein features
start (aa)end (aa)featuredetails 
16621665TURNmight get lost (downstream of altered splice site)
16661673HELIXmight get lost (downstream of altered splice site)
16661824DOMAINRNase III 2.might get lost (downstream of altered splice site)
16801687HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENQ->A: No effect on activity.might get lost (downstream of altered splice site)
17021722HELIXmight get lost (downstream of altered splice site)
17051705METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
17091709MUTAGEND->A: Decreased activity. Loss of activity; when associated with D-1320.might get lost (downstream of altered splice site)
17291729MUTAGENP->E: No effect on activity.might get lost (downstream of altered splice site)
17291739HELIXmight get lost (downstream of altered splice site)
17421751HELIXmight get lost (downstream of altered splice site)
17541756HELIXmight get lost (downstream of altered splice site)
17631778HELIXmight get lost (downstream of altered splice site)
18061806SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
18061822HELIXmight get lost (downstream of altered splice site)
18101810METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813MUTAGENE->A: Decreased activity. Loss of activity; when associated with E-1444.might get lost (downstream of altered splice site)
18271842HELIXmight get lost (downstream of altered splice site)
18491914DOMAINDRBM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5769 / 5769
position (AA) of stopcodon in wt / mu AA sequence 1923 / 1923
position of stopcodon in wt / mu cDNA 6007 / 6007
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 239 / 239
chromosome 14
strand -1
last intron/exon boundary 5842
theoretical NMD boundary in CDS 5553
length of CDS 5769
coding sequence (CDS) position 4748
cDNA position
(for ins/del: last normal base / first normal base)
4986
gDNA position
(for ins/del: last normal base / first normal base)
61839
chromosomal position
(for ins/del: last normal base / first normal base)
95562509
original gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
original cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
wildtype AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFLCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE
DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM
EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP
NS*
mutated AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFRCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE
DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM
EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP
NS*
speed 1.58 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

disease causing

Model: simple_aae, prob: 0.999999999445641 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM093987)
  • known disease mutation: rs4468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:95562509A>CN/A show variant in all transcripts   IGV
HGNC symbol DICER1
Ensembl transcript ID ENST00000527414
Genbank transcript ID NM_001271282
UniProt peptide Q9UPY3
alteration type single base exchange
alteration region CDS
DNA changes c.4748T>G
cDNA.4981T>G
g.61839T>G
AA changes L1583R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1583
frameshift no
known variant Reference ID: rs137852976
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4468 (pathogenic for Pleuropulmonary blastoma|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.661
4.8051
(flanking)5.8011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased61842wt: 0.8690 / mu: 0.8802 (marginal change - not scored)wt: GGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGGTGC
mu: GGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGGTGC
 tctg|TTCA
Acc gained618380.49mu: AGAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAG ttcc|GCTG
distance from splice site 348
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1583TSCGERAAQLFLCSLGLKVLPVIK
mutated  not conserved    1583TSCGERAAQLFRCSLGLKVLPVI
Ptroglodytes  all identical  ENSPTRG00000023484  1583TSCGERAAQLFLCSLGLKVLPVI
Mmulatta  all identical  ENSMMUG00000023305  1581TSCGERAAQLFLCSLGLKVLPVI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000041415  1569TSCGERAAQLFLCSLGLKVLPVI
Ggallus  all identical  ENSGALG00000010999  1586TSCGERAAQLFLCSLGLKVLPVI
Trubripes  all identical  ENSTRUG00000006156  1582TSCGERAAQMFLCSLGLKVSPNL
Drerio  all identical  ENSDARG00000001129  1559TSCGERAAQLFLCSLGLKVLPPE
Dmelanogaster  all conserved  FBgn0039016  1927IECGPRGALLFMAWLGVRVLPIT
Celegans  all conserved  K12H4.8  1532LGPNPTLKVMNWMGLKVIQKD
Xtropicalis  all identical  ENSXETG00000023315  1563TSCGERAAQLFLCSLGLKVLPEV
protein features
start (aa)end (aa)featuredetails 
16621665TURNmight get lost (downstream of altered splice site)
16661673HELIXmight get lost (downstream of altered splice site)
16661824DOMAINRNase III 2.might get lost (downstream of altered splice site)
16801687HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENQ->A: No effect on activity.might get lost (downstream of altered splice site)
17021722HELIXmight get lost (downstream of altered splice site)
17051705METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
17091709MUTAGEND->A: Decreased activity. Loss of activity; when associated with D-1320.might get lost (downstream of altered splice site)
17291729MUTAGENP->E: No effect on activity.might get lost (downstream of altered splice site)
17291739HELIXmight get lost (downstream of altered splice site)
17421751HELIXmight get lost (downstream of altered splice site)
17541756HELIXmight get lost (downstream of altered splice site)
17631778HELIXmight get lost (downstream of altered splice site)
18061806SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
18061822HELIXmight get lost (downstream of altered splice site)
18101810METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813MUTAGENE->A: Decreased activity. Loss of activity; when associated with E-1444.might get lost (downstream of altered splice site)
18271842HELIXmight get lost (downstream of altered splice site)
18491914DOMAINDRBM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5769 / 5769
position (AA) of stopcodon in wt / mu AA sequence 1923 / 1923
position of stopcodon in wt / mu cDNA 6002 / 6002
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 234 / 234
chromosome 14
strand -1
last intron/exon boundary 5837
theoretical NMD boundary in CDS 5553
length of CDS 5769
coding sequence (CDS) position 4748
cDNA position
(for ins/del: last normal base / first normal base)
4981
gDNA position
(for ins/del: last normal base / first normal base)
61839
chromosomal position
(for ins/del: last normal base / first normal base)
95562509
original gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
original cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
wildtype AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFLCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE
DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM
EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP
NS*
mutated AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFRCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE
DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM
EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP
NS*
speed 1.67 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999445641 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM093987)
  • known disease mutation: rs4468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:95562509A>CN/A show variant in all transcripts   IGV
HGNC symbol DICER1
Ensembl transcript ID ENST00000526495
Genbank transcript ID NM_030621
UniProt peptide Q9UPY3
alteration type single base exchange
alteration region CDS
DNA changes c.4748T>G
cDNA.5040T>G
g.61839T>G
AA changes L1583R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1583
frameshift no
known variant Reference ID: rs137852976
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4468 (pathogenic for Pleuropulmonary blastoma|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.661
4.8051
(flanking)5.8011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased61842wt: 0.8690 / mu: 0.8802 (marginal change - not scored)wt: GGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGGTGC
mu: GGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGGTGC
 tctg|TTCA
Acc gained618380.49mu: AGAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAG ttcc|GCTG
distance from splice site 348
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1583TSCGERAAQLFLCSLGLKVLPVIK
mutated  not conserved    1583TSCGERAAQLFRCSLGLKVLPVI
Ptroglodytes  all identical  ENSPTRG00000023484  1583TSCGERAAQLFLCSLGLKVLPVI
Mmulatta  all identical  ENSMMUG00000023305  1581TSCGERAAQLFLCSLGLKVLPVI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000041415  1569TSCGERAAQLFLCSLGLKVLPVI
Ggallus  all identical  ENSGALG00000010999  1586TSCGERAAQLFLCSLGLKVLPVI
Trubripes  all identical  ENSTRUG00000006156  1582TSCGERAAQMFLCSLGLKVSPNL
Drerio  all identical  ENSDARG00000001129  1559TSCGERAAQLFLCSLGLKVLPPE
Dmelanogaster  all conserved  FBgn0039016  1927IECGPRGALLFMAWLGVRVLPIT
Celegans  all conserved  K12H4.8  1532LGPNPTLKVMNWMGLKVIQKD
Xtropicalis  all identical  ENSXETG00000023315  1563TSCGERAAQLFLCSLGLKVLPEV
protein features
start (aa)end (aa)featuredetails 
16621665TURNmight get lost (downstream of altered splice site)
16661673HELIXmight get lost (downstream of altered splice site)
16661824DOMAINRNase III 2.might get lost (downstream of altered splice site)
16801687HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENQ->A: No effect on activity.might get lost (downstream of altered splice site)
17021722HELIXmight get lost (downstream of altered splice site)
17051705METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
17091709MUTAGEND->A: Decreased activity. Loss of activity; when associated with D-1320.might get lost (downstream of altered splice site)
17291729MUTAGENP->E: No effect on activity.might get lost (downstream of altered splice site)
17291739HELIXmight get lost (downstream of altered splice site)
17421751HELIXmight get lost (downstream of altered splice site)
17541756HELIXmight get lost (downstream of altered splice site)
17631778HELIXmight get lost (downstream of altered splice site)
18061806SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
18061822HELIXmight get lost (downstream of altered splice site)
18101810METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813MUTAGENE->A: Decreased activity. Loss of activity; when associated with E-1444.might get lost (downstream of altered splice site)
18271842HELIXmight get lost (downstream of altered splice site)
18491914DOMAINDRBM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5769 / 5769
position (AA) of stopcodon in wt / mu AA sequence 1923 / 1923
position of stopcodon in wt / mu cDNA 6061 / 6061
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 293 / 293
chromosome 14
strand -1
last intron/exon boundary 5896
theoretical NMD boundary in CDS 5553
length of CDS 5769
coding sequence (CDS) position 4748
cDNA position
(for ins/del: last normal base / first normal base)
5040
gDNA position
(for ins/del: last normal base / first normal base)
61839
chromosomal position
(for ins/del: last normal base / first normal base)
95562509
original gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
original cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
wildtype AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFLCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE
DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM
EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP
NS*
mutated AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFRCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE
DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM
EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP
NS*
speed 1.58 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

disease causing

Model: simple_aae, prob: 0.999999999445641 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM093987)
  • known disease mutation: rs4468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:95562509A>CN/A show variant in all transcripts   IGV
HGNC symbol DICER1
Ensembl transcript ID ENST00000541352
Genbank transcript ID NM_001195573
UniProt peptide Q9UPY3
alteration type single base exchange
alteration region CDS
DNA changes c.4748T>G
cDNA.4757T>G
g.61839T>G
AA changes L1583R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1583
frameshift no
known variant Reference ID: rs137852976
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4468 (pathogenic for Pleuropulmonary blastoma|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.661
4.8051
(flanking)5.8011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased61842wt: 0.8690 / mu: 0.8802 (marginal change - not scored)wt: GGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGGTGC
mu: GGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGGTGC
 tctg|TTCA
Acc gained618380.49mu: AGAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAG ttcc|GCTG
distance from splice site 348
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1583TSCGERAAQLFLCSLGLKVLPVIK
mutated  not conserved    1583TSCGERAAQLFRCSLGLKVLPVI
Ptroglodytes  all identical  ENSPTRG00000023484  1583TSCGERAAQLFLCSLGLKVLPVI
Mmulatta  all identical  ENSMMUG00000023305  1581TSCGERAAQLFLCSLGLKVLPVI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000041415  1569TSCGERAAQLFLCSLGLKVLPVI
Ggallus  all identical  ENSGALG00000010999  1586TSCGERAAQLFLCSLGLKVLPVI
Trubripes  all identical  ENSTRUG00000006156  1582TSCGERAAQMFLCSLGLKVSPNL
Drerio  all identical  ENSDARG00000001129  1559TSCGERAAQLFLCSLGLKVLPPE
Dmelanogaster  all conserved  FBgn0039016  1927IECGPRGALLFMAWLGVRVLPIT
Celegans  all conserved  K12H4.8  1532LGPNPTLKVMNWMGLKVIQKD
Xtropicalis  all identical  ENSXETG00000023315  1563TSCGERAAQLFLCSLGLKVLPEV
protein features
start (aa)end (aa)featuredetails 
16621665TURNmight get lost (downstream of altered splice site)
16661673HELIXmight get lost (downstream of altered splice site)
16661824DOMAINRNase III 2.might get lost (downstream of altered splice site)
16801687HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENQ->A: No effect on activity.might get lost (downstream of altered splice site)
17021722HELIXmight get lost (downstream of altered splice site)
17051705METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
17091709MUTAGEND->A: Decreased activity. Loss of activity; when associated with D-1320.might get lost (downstream of altered splice site)
17291729MUTAGENP->E: No effect on activity.might get lost (downstream of altered splice site)
17291739HELIXmight get lost (downstream of altered splice site)
17421751HELIXmight get lost (downstream of altered splice site)
17541756HELIXmight get lost (downstream of altered splice site)
17631778HELIXmight get lost (downstream of altered splice site)
18061806SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
18061822HELIXmight get lost (downstream of altered splice site)
18101810METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813MUTAGENE->A: Decreased activity. Loss of activity; when associated with E-1444.might get lost (downstream of altered splice site)
18271842HELIXmight get lost (downstream of altered splice site)
18491914DOMAINDRBM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5490 / 5490
position (AA) of stopcodon in wt / mu AA sequence 1830 / 1830
position of stopcodon in wt / mu cDNA 5499 / 5499
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 10 / 10
chromosome 14
strand -1
last intron/exon boundary 5450
theoretical NMD boundary in CDS 5390
length of CDS 5490
coding sequence (CDS) position 4748
cDNA position
(for ins/del: last normal base / first normal base)
4757
gDNA position
(for ins/del: last normal base / first normal base)
61839
chromosomal position
(for ins/del: last normal base / first normal base)
95562509
original gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
original cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
wildtype AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFLCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSEKS FLQMYPVPLC
ENCLKWNQKL PNLARLRELT TGRSESLWK*
mutated AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFRCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSEKS FLQMYPVPLC
ENCLKWNQKL PNLARLRELT TGRSESLWK*
speed 1.77 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

disease causing

Model: simple_aae, prob: 0.999999999445641 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM093987)
  • known disease mutation: rs4468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:95562509A>CN/A show variant in all transcripts   IGV
HGNC symbol DICER1
Ensembl transcript ID ENST00000393063
Genbank transcript ID N/A
UniProt peptide Q9UPY3
alteration type single base exchange
alteration region CDS
DNA changes c.4748T>G
cDNA.4930T>G
g.61839T>G
AA changes L1583R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1583
frameshift no
known variant Reference ID: rs137852976
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4468 (pathogenic for Pleuropulmonary blastoma|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.661
4.8051
(flanking)5.8011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased61842wt: 0.8690 / mu: 0.8802 (marginal change - not scored)wt: GGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGGTGC
mu: GGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGGTGC
 tctg|TTCA
Acc gained618380.49mu: AGAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAG ttcc|GCTG
distance from splice site 348
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1583TSCGERAAQLFLCSLGLKVLPVIK
mutated  not conserved    1583TSCGERAAQLFRCSLGLKVLPVI
Ptroglodytes  all identical  ENSPTRG00000023484  1583TSCGERAAQLFLCSLGLKVLPVI
Mmulatta  all identical  ENSMMUG00000023305  1581TSCGERAAQLFLCSLGLKVLPVI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000041415  1569TSCGERAAQLFLCSLGLKVLPVI
Ggallus  all identical  ENSGALG00000010999  1586TSCGERAAQLFLCSLGLKVLPVI
Trubripes  all identical  ENSTRUG00000006156  1582TSCGERAAQMFLCSLGLKVSPNL
Drerio  all identical  ENSDARG00000001129  1559TSCGERAAQLFLCSLGLKVLPPE
Dmelanogaster  all conserved  FBgn0039016  1927IECGPRGALLFMAWLGVRVLPIT
Celegans  all conserved  K12H4.8  1532LGPNPTLKVMNWMGLKVIQKD
Xtropicalis  all identical  ENSXETG00000023315  1563TSCGERAAQLFLCSLGLKVLPEV
protein features
start (aa)end (aa)featuredetails 
16621665TURNmight get lost (downstream of altered splice site)
16661673HELIXmight get lost (downstream of altered splice site)
16661824DOMAINRNase III 2.might get lost (downstream of altered splice site)
16801687HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENQ->A: No effect on activity.might get lost (downstream of altered splice site)
17021722HELIXmight get lost (downstream of altered splice site)
17051705METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
17091709MUTAGEND->A: Decreased activity. Loss of activity; when associated with D-1320.might get lost (downstream of altered splice site)
17291729MUTAGENP->E: No effect on activity.might get lost (downstream of altered splice site)
17291739HELIXmight get lost (downstream of altered splice site)
17421751HELIXmight get lost (downstream of altered splice site)
17541756HELIXmight get lost (downstream of altered splice site)
17631778HELIXmight get lost (downstream of altered splice site)
18061806SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
18061822HELIXmight get lost (downstream of altered splice site)
18101810METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813MUTAGENE->A: Decreased activity. Loss of activity; when associated with E-1444.might get lost (downstream of altered splice site)
18271842HELIXmight get lost (downstream of altered splice site)
18491914DOMAINDRBM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5769 / 5769
position (AA) of stopcodon in wt / mu AA sequence 1923 / 1923
position of stopcodon in wt / mu cDNA 5951 / 5951
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 183 / 183
chromosome 14
strand -1
last intron/exon boundary 5786
theoretical NMD boundary in CDS 5553
length of CDS 5769
coding sequence (CDS) position 4748
cDNA position
(for ins/del: last normal base / first normal base)
4930
gDNA position
(for ins/del: last normal base / first normal base)
61839
chromosomal position
(for ins/del: last normal base / first normal base)
95562509
original gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
original cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
wildtype AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFLCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE
DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM
EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP
NS*
mutated AA sequence MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT
IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK
VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA
ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE
EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT
GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP
TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD
IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD
GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL
QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI
EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV
GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT
SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN
QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV
MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW
LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED
DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED
FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA
DCVEALLGCY LTSCGERAAQ LFRCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS
CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK
AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV
NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE
DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM
EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP
NS*
speed 1.67 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999743618 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM093987)
  • known disease mutation: rs4468 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:95562509A>CN/A show variant in all transcripts   IGV
HGNC symbol DICER1
Ensembl transcript ID ENST00000556045
Genbank transcript ID N/A
UniProt peptide Q9UPY3
alteration type single base exchange
alteration region CDS
DNA changes c.1442T>G
cDNA.1725T>G
g.61839T>G
AA changes L481R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS
481
frameshift no
known variant Reference ID: rs137852976
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4468 (pathogenic for Pleuropulmonary blastoma|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
known disease mutation at this position, please check HGMD for details (HGMD ID CM093987)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.661
4.8051
(flanking)5.8011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased61842wt: 0.8690 / mu: 0.8802 (marginal change - not scored)wt: GGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGGTGC
mu: GGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGGTGC
 tctg|TTCA
Acc gained618380.49mu: AGAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAG ttcc|GCTG
distance from splice site 348
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      481TSCGERAAQLFLCSLGLKVLPVIK
mutated  not conserved    481RCSLGLKVLPVI
Ptroglodytes  all identical  ENSPTRG00000023484  1583TSCGERAAQLFLCSLGLKVLPVI
Mmulatta  all identical  ENSMMUG00000023305  1581TSCGERAAQLFLCSLGLKVLPVI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000041415  1569TSCGERAAQLFLCSLGLKVLPV
Ggallus  all identical  ENSGALG00000010999  1586TSCGERAAQLFLCSLGLKVLPV
Trubripes  all identical  ENSTRUG00000006156  1582TSCGERAAQMFLCSLGLKVSPNL
Drerio  all identical  ENSDARG00000001129  1559TSCGERAAQLFLCSLGLKVLPPE
Dmelanogaster  all conserved  FBgn0039016  1927IECGPRGALLFMAWLGVRVLPIT
Celegans  all conserved  K12H4.8  1532LGPNPTLKVMNWMGLKVIQKD
Xtropicalis  all identical  ENSXETG00000023315  1563TSCGERAAQLFLCSLGLKVLPEV
protein features
start (aa)end (aa)featuredetails 
256595REGIONRequired for interaction with PRKRA and TARBP2.lost
433602DOMAINHelicase C-terminal.lost
492493CONFLICTKQ -> NT (in Ref. 1; BAA78691).might get lost (downstream of altered splice site)
609609CONFLICTD -> H (in Ref. 1; BAA78691).might get lost (downstream of altered splice site)
630722DOMAINDicer dsRNA-binding fold.might get lost (downstream of altered splice site)
664664MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
8911042DOMAINPAZ.might get lost (downstream of altered splice site)
960960MUTAGENF->A: 2-fold decrease in activity.might get lost (downstream of altered splice site)
971971MUTAGENY->A: 10-fold decrease in activity; when associated with Y-972.might get lost (downstream of altered splice site)
972972MUTAGENY->A: 10-fold decrease in activity; when associated with Y-971.might get lost (downstream of altered splice site)
10161016MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10361036MUTAGENE->A: 5-fold decrease in activity.might get lost (downstream of altered splice site)
12761403DOMAINRNase III 1.might get lost (downstream of altered splice site)
13131313MUTAGENE->A: No effect on activity.might get lost (downstream of altered splice site)
13161316METALMagnesium or manganese 1 (By similarity).might get lost (downstream of altered splice site)
13201320MUTAGEND->A: Decreased activity. Loss of activity; when associated with D-1709.might get lost (downstream of altered splice site)
13401340MUTAGENE->A: No effect on activity.might get lost (downstream of altered splice site)
13951395METALMagnesium or manganese 1 (By similarity).might get lost (downstream of altered splice site)
13981398METALMagnesium or manganese 1 (By similarity).might get lost (downstream of altered splice site)
14441444MUTAGENE->A: Decreased activity. Loss of activity; when associated with E-1813.might get lost (downstream of altered splice site)
16621665TURNmight get lost (downstream of altered splice site)
16661673HELIXmight get lost (downstream of altered splice site)
16661824DOMAINRNase III 2.might get lost (downstream of altered splice site)
16801687HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENQ->A: No effect on activity.might get lost (downstream of altered splice site)
17021722HELIXmight get lost (downstream of altered splice site)
17051705METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
17091709MUTAGEND->A: Decreased activity. Loss of activity; when associated with D-1320.might get lost (downstream of altered splice site)
17291729MUTAGENP->E: No effect on activity.might get lost (downstream of altered splice site)
17291739HELIXmight get lost (downstream of altered splice site)
17421751HELIXmight get lost (downstream of altered splice site)
17541756HELIXmight get lost (downstream of altered splice site)
17631778HELIXmight get lost (downstream of altered splice site)
18061806SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
18061822HELIXmight get lost (downstream of altered splice site)
18101810METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18131813MUTAGENE->A: Decreased activity. Loss of activity; when associated with E-1444.might get lost (downstream of altered splice site)
18131813METALMagnesium or manganese 2.might get lost (downstream of altered splice site)
18271842HELIXmight get lost (downstream of altered splice site)
18491914DOMAINDRBM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2463 / 2463
position (AA) of stopcodon in wt / mu AA sequence 821 / 821
position of stopcodon in wt / mu cDNA 2746 / 2746
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 284 / 284
chromosome 14
strand -1
last intron/exon boundary 2581
theoretical NMD boundary in CDS 2247
length of CDS 2463
coding sequence (CDS) position 1442
cDNA position
(for ins/del: last normal base / first normal base)
1725
gDNA position
(for ins/del: last normal base / first normal base)
61839
chromosomal position
(for ins/del: last normal base / first normal base)
95562509
original gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered gDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
original cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCTCTGTTCACTGGGGCTGAAGG
altered cDNA sequence snippet GAGGGCTGCTCAGCTTTTCCGCTGTTCACTGGGGCTGAAGG
wildtype AA sequence MLAWESDHFL RILAENDNYC KHSTIVPENA AHQGANRTSS LENHDQMSVN CRTLLSESPG
KLHVEVSADL TAINGLSYNQ NLANGSYDLA NRDFCQGNQL NYYKQEIPVQ PTTSYSIQNL
YSYENQPQPS DECTLLSNKY LDGNANKSTS DGSPVMAVMP GTTDTIQVLK GRMDSEQSPS
IGYSSRTLGP NPGLILQALT LSNASDGFNL ERLEMLGDSF LKHAITTYLF CTYPDAHEGR
LSYMRSKKVS NCNLYRLGKK KGLPSRMVVS IFDPPVNWLP PGYVVNQDKS NTDKWEKDEM
TKDCMLANGK LDEDYEEEDE EEESLMWRAP KEEADYEDDF LEYDQEHIRF IDNMLMGSGA
FVKKISLSPF STTDSAYEWK MPKKSSLGSM PFSSDFEDFD YSSWDAMCYL DPSKAVEEDD
FVVGFWNPSE ENCGVDTGKQ SISYDLHTEQ CIADKSIADC VEALLGCYLT SCGERAAQLF
LCSLGLKVLP VIKRTDREKA LCPTRENFNS QQKNLSVSCA AASVASSRSS VLKDSEYGCL
KIPPRCMFDH PDADKTLNHL ISGFENFEKK INYRFKNKAY LLQAFTHASY HYNTITDCYQ
RLEFLGDAIL DYLITKHLYE DPRQHSPGVL TDLRSALVNN TIFASLAVKY DYHKYFKAVS
PELFHVIDDF VQFQLEKNEM QGMDSELRRS EEDEEKEEDI EVPKAMGDIF ESLAGAIYMD
SGMSLETVWQ VYYPMMRPLI EKFSANVPRS PVRELLEMEP ETAKFSPAER TYDGKVRVTV
EVVGKGKFKG VGRSYRIAKS AAARRALRSL KANQPQVPNS *
mutated AA sequence MLAWESDHFL RILAENDNYC KHSTIVPENA AHQGANRTSS LENHDQMSVN CRTLLSESPG
KLHVEVSADL TAINGLSYNQ NLANGSYDLA NRDFCQGNQL NYYKQEIPVQ PTTSYSIQNL
YSYENQPQPS DECTLLSNKY LDGNANKSTS DGSPVMAVMP GTTDTIQVLK GRMDSEQSPS
IGYSSRTLGP NPGLILQALT LSNASDGFNL ERLEMLGDSF LKHAITTYLF CTYPDAHEGR
LSYMRSKKVS NCNLYRLGKK KGLPSRMVVS IFDPPVNWLP PGYVVNQDKS NTDKWEKDEM
TKDCMLANGK LDEDYEEEDE EEESLMWRAP KEEADYEDDF LEYDQEHIRF IDNMLMGSGA
FVKKISLSPF STTDSAYEWK MPKKSSLGSM PFSSDFEDFD YSSWDAMCYL DPSKAVEEDD
FVVGFWNPSE ENCGVDTGKQ SISYDLHTEQ CIADKSIADC VEALLGCYLT SCGERAAQLF
RCSLGLKVLP VIKRTDREKA LCPTRENFNS QQKNLSVSCA AASVASSRSS VLKDSEYGCL
KIPPRCMFDH PDADKTLNHL ISGFENFEKK INYRFKNKAY LLQAFTHASY HYNTITDCYQ
RLEFLGDAIL DYLITKHLYE DPRQHSPGVL TDLRSALVNN TIFASLAVKY DYHKYFKAVS
PELFHVIDDF VQFQLEKNEM QGMDSELRRS EEDEEKEEDI EVPKAMGDIF ESLAGAIYMD
SGMSLETVWQ VYYPMMRPLI EKFSANVPRS PVRELLEMEP ETAKFSPAER TYDGKVRVTV
EVVGKGKFKG VGRSYRIAKS AAARRALRSL KANQPQVPNS *
speed 1.63 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