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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000256996
Querying Taster for transcript #2: ENST00000378603
Querying Taster for transcript #3: ENST00000378600
Querying Taster for transcript #4: ENST00000378601
MT speed 0 s - this script 3.997349 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DDB2disease_causing_automatic0.99999999998425simple_aaeaffected0D307Ysingle base exchangers121434642show file
DDB2disease_causing_automatic0.99999999998425simple_aaeaffected0D243Ysingle base exchangers121434642show file
DDB2disease_causing_automatic1without_aaeaffected0single base exchangers121434642show file
DDB2disease_causing_automatic1without_aaeaffected0single base exchangers121434642show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999998425 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031666)
  • known disease mutation: rs8790 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:47256859G>TN/A show variant in all transcripts   IGV
HGNC symbol DDB2
Ensembl transcript ID ENST00000256996
Genbank transcript ID NM_000107
UniProt peptide Q92466
alteration type single base exchange
alteration region CDS
DNA changes c.919G>T
cDNA.1114G>T
g.20367G>T
AA changes D307Y Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 307
frameshift no
known variant Reference ID: rs121434642
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8790 (pathogenic for Xeroderma pigmentosum, group E) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.8470.064
6.2621
(flanking)5.1711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20365wt: 0.20 / mu: 0.44wt: TGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCC
mu: TGGAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCC		 ccac|GGAC
Donor increased20360wt: 0.31 / mu: 0.92wt: CTCCTGACCACGGAC
mu: CTCCTGACCACGTAC		 CCTG|acca
Acc gained203710.53mu: CCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGAGTTT acca|GAAG
distance from splice site 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      307FSPDGARLLTTDQKSEIRVYSASQ
mutated  not conserved    307ARLLTTYQKSEIRVYSAS
Ptroglodytes  all identical  ENSPTRG00000003558  307ARLLTTDQKSEIRVYSAS
Mmulatta  all identical  ENSMMUG00000022964  307ARLLTTDQKSEIRIYSAS
Fcatus  all identical  ENSFCAG00000002526  307AQLLTTDQKSELRVYSAS
Mmusculus  all identical  ENSMUSG00000002109  307ARLLTTDQNNEIRVYSAS
Ggallus  all identical  ENSGALG00000008218  327FSPTDGAKLLSTDQRNEIRVYSCS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000041140  314---DSTKLLTTDQRNEIRVYSSY
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000003980  317LLTTDQHSEIRVYSAC
protein features
start (aa)end (aa)featuredetails 
286325REPEATWD 4.lost
300310STRANDlost
312326STRANDmight get lost (downstream of altered splice site)
335337STRANDmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
350350MUTAGENL->P: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
351354STRANDmight get lost (downstream of altered splice site)
364366STRANDmight get lost (downstream of altered splice site)
372375STRANDmight get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
382386STRANDmight get lost (downstream of altered splice site)
389391TURNmight get lost (downstream of altered splice site)
389426REPEATWD 5.might get lost (downstream of altered splice site)
397400STRANDmight get lost (downstream of altered splice site)
407410STRANDmight get lost (downstream of altered splice site)
412417STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1284 / 1284
position (AA) of stopcodon in wt / mu AA sequence 428 / 428
position of stopcodon in wt / mu cDNA 1479 / 1479
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 196 / 196
chromosome 11
strand 1
last intron/exon boundary 1430
theoretical NMD boundary in CDS 1184
length of CDS 1284
coding sequence (CDS) position 919
cDNA position
(for ins/del: last normal base / first normal base)		 1114
gDNA position
(for ins/del: last normal base / first normal base)		 20367
chromosomal position
(for ins/del: last normal base / first normal base)		 47256859
original gDNA sequence snippet GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA
altered gDNA sequence snippet GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA
original cDNA sequence snippet GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA
altered cDNA sequence snippet GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA
wildtype AA sequence MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQGL QQSFLHTLDS YRILQKAAPF DRRATSLAWH
PTHPSTVAVG SKGGDIMLWN FGIKDKPTFI KGIGAGGSIT GLKFNPLNTN QFYASSMEGT
TRLQDFKGNI LRVFASSDTI NIWFCSLDVS ASSRMVVTGD NVGNVILLNM DGKELWNLRM
HKKKVTHVAL NPCCDWFLAT ASVDQTVKIW DLRQVRGKAS FLYSLPHRHP VNAACFSPDG
ARLLTTDQKS EIRVYSASQW DCPLGLIPHP HRHFQHLTPI KAAWHPRYNL IVVGRYPDPN
FKSCTPYELR TIDVFDGNSG KMMCQLYDPE SSGISSLNEF NPMGDTLASA MGYHILIWSQ
EEARTRK*
mutated AA sequence MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQGL QQSFLHTLDS YRILQKAAPF DRRATSLAWH
PTHPSTVAVG SKGGDIMLWN FGIKDKPTFI KGIGAGGSIT GLKFNPLNTN QFYASSMEGT
TRLQDFKGNI LRVFASSDTI NIWFCSLDVS ASSRMVVTGD NVGNVILLNM DGKELWNLRM
HKKKVTHVAL NPCCDWFLAT ASVDQTVKIW DLRQVRGKAS FLYSLPHRHP VNAACFSPDG
ARLLTTYQKS EIRVYSASQW DCPLGLIPHP HRHFQHLTPI KAAWHPRYNL IVVGRYPDPN
FKSCTPYELR TIDVFDGNSG KMMCQLYDPE SSGISSLNEF NPMGDTLASA MGYHILIWSQ
EEARTRK*
speed 0.26 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: 0.99999999998425 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031666)
  • known disease mutation: rs8790 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:47256859G>TN/A show variant in all transcripts   IGV
HGNC symbol DDB2
Ensembl transcript ID ENST00000378603
Genbank transcript ID N/A
UniProt peptide Q92466
alteration type single base exchange
alteration region CDS
DNA changes c.727G>T
cDNA.922G>T
g.20367G>T
AA changes D243Y Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 243
frameshift no
known variant Reference ID: rs121434642
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8790 (pathogenic for Xeroderma pigmentosum, group E) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.8470.064
6.2621
(flanking)5.1711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20365wt: 0.20 / mu: 0.44wt: TGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCC
mu: TGGAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCC		 ccac|GGAC
Donor increased20360wt: 0.31 / mu: 0.92wt: CTCCTGACCACGGAC
mu: CTCCTGACCACGTAC		 CCTG|acca
Acc gained203710.53mu: CCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGAGTTT acca|GAAG
distance from splice site 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      243FSPDGARLLTTDQKSEIRVYSASQ
mutated  not conserved    243TTYQKSEIRVYSAS
Ptroglodytes  all identical  ENSPTRG00000003558  307GARLLTTDQKSEIRVYSAS
Mmulatta  all identical  ENSMMUG00000022964  307GARLLTTDQKSEIRIYSAS
Fcatus  all identical  ENSFCAG00000002526  307GAQLLTTDQKSELRVYSAS
Mmusculus  all identical  ENSMUSG00000002109  307ARLLTTDQNNEIRVYSAS
Ggallus  all identical  ENSGALG00000008218  327FSPTDGAKLLSTDQRNEIRVYSCS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000041140  316---DSTKLLTTDQRNEIRVYSSY
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000003980  316FSPWDGAKLLTTDQHSEIRVYSAC
protein features
start (aa)end (aa)featuredetails 
240280REPEATWD 3.lost
241243STRANDlost
245250STRANDmight get lost (downstream of altered splice site)
255262STRANDmight get lost (downstream of altered splice site)
256274MOTIFDWD box.might get lost (downstream of altered splice site)
258258MUTAGENL->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
262262MUTAGENS->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
264264MUTAGEND->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
269269MUTAGENI->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
269271STRANDmight get lost (downstream of altered splice site)
270270MUTAGENW->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
272272MUTAGENL->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
272274TURNmight get lost (downstream of altered splice site)
273273MUTAGENR->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
277279STRANDmight get lost (downstream of altered splice site)
278278MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
282286STRANDmight get lost (downstream of altered splice site)
286325REPEATWD 4.might get lost (downstream of altered splice site)
291293STRANDmight get lost (downstream of altered splice site)
300310STRANDmight get lost (downstream of altered splice site)
312326STRANDmight get lost (downstream of altered splice site)
335337STRANDmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
350350MUTAGENL->P: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
351354STRANDmight get lost (downstream of altered splice site)
364366STRANDmight get lost (downstream of altered splice site)
372375STRANDmight get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
382386STRANDmight get lost (downstream of altered splice site)
389391TURNmight get lost (downstream of altered splice site)
389426REPEATWD 5.might get lost (downstream of altered splice site)
397400STRANDmight get lost (downstream of altered splice site)
407410STRANDmight get lost (downstream of altered splice site)
412417STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1092 / 1092
position (AA) of stopcodon in wt / mu AA sequence 364 / 364
position of stopcodon in wt / mu cDNA 1287 / 1287
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 196 / 196
chromosome 11
strand 1
last intron/exon boundary 1238
theoretical NMD boundary in CDS 992
length of CDS 1092
coding sequence (CDS) position 727
cDNA position
(for ins/del: last normal base / first normal base)		 922
gDNA position
(for ins/del: last normal base / first normal base)		 20367
chromosomal position
(for ins/del: last normal base / first normal base)		 47256859
original gDNA sequence snippet GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA
altered gDNA sequence snippet GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA
original cDNA sequence snippet GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA
altered cDNA sequence snippet GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA
wildtype AA sequence MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQIG AGGSITGLKF NPLNTNQFYA SSMEGTTRLQ
DFKGNILRVF ASSDTINIWF CSLDVSASSR MVVTGDNVGN VILLNMDGKE LWNLRMHKKK
VTHVALNPCC DWFLATASVD QTVKIWDLRQ VRGKASFLYS LPHRHPVNAA CFSPDGARLL
TTDQKSEIRV YSASQWDCPL GLIPHPHRHF QHLTPIKAAW HPRYNLIVVG RYPDPNFKSC
TPYELRTIDV FDGNSGKMMC QLYDPESSGI SSLNEFNPMG DTLASAMGYH ILIWSQEEAR
TRK*
mutated AA sequence MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQIG AGGSITGLKF NPLNTNQFYA SSMEGTTRLQ
DFKGNILRVF ASSDTINIWF CSLDVSASSR MVVTGDNVGN VILLNMDGKE LWNLRMHKKK
VTHVALNPCC DWFLATASVD QTVKIWDLRQ VRGKASFLYS LPHRHPVNAA CFSPDGARLL
TTYQKSEIRV YSASQWDCPL GLIPHPHRHF QHLTPIKAAW HPRYNLIVVG RYPDPNFKSC
TPYELRTIDV FDGNSGKMMC QLYDPESSGI SSLNEFNPMG DTLASAMGYH ILIWSQEEAR
TRK*
speed 0.29 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM031666)
  • known disease mutation: rs8790 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:47256859G>TN/A show variant in all transcripts   IGV
HGNC symbol DDB2
Ensembl transcript ID ENST00000378600
Genbank transcript ID N/A
UniProt peptide Q92466
alteration type single base exchange
alteration region intron
DNA changes g.20367G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121434642
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8790 (pathogenic for Xeroderma pigmentosum, group E) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.8470.064
6.2621
(flanking)5.1711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20365wt: 0.20 / mu: 0.44wt: TGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCC
mu: TGGAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCC		 ccac|GGAC
Donor increased20360wt: 0.31 / mu: 0.92wt: CTCCTGACCACGGAC
mu: CTCCTGACCACGTAC		 CCTG|acca
Acc gained203710.53mu: CCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGAGTTT acca|GAAG
distance from splice site 2529
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
154156STRANDmight get lost (downstream of altered splice site)
154195REPEATWD 2.might get lost (downstream of altered splice site)
161164STRANDmight get lost (downstream of altered splice site)
171175STRANDmight get lost (downstream of altered splice site)
177179STRANDmight get lost (downstream of altered splice site)
181185STRANDmight get lost (downstream of altered splice site)
186188TURNmight get lost (downstream of altered splice site)
190195STRANDmight get lost (downstream of altered splice site)
207210STRANDmight get lost (downstream of altered splice site)
211214TURNmight get lost (downstream of altered splice site)
215219STRANDmight get lost (downstream of altered splice site)
221232STRANDmight get lost (downstream of altered splice site)
240280REPEATWD 3.might get lost (downstream of altered splice site)
241243STRANDmight get lost (downstream of altered splice site)
245250STRANDmight get lost (downstream of altered splice site)
255262STRANDmight get lost (downstream of altered splice site)
256274MOTIFDWD box.might get lost (downstream of altered splice site)
258258MUTAGENL->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
262262MUTAGENS->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
264264MUTAGEND->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
269269MUTAGENI->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
269271STRANDmight get lost (downstream of altered splice site)
270270MUTAGENW->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
272272MUTAGENL->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
272274TURNmight get lost (downstream of altered splice site)
273273MUTAGENR->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
277279STRANDmight get lost (downstream of altered splice site)
278278MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
282286STRANDmight get lost (downstream of altered splice site)
286325REPEATWD 4.might get lost (downstream of altered splice site)
291293STRANDmight get lost (downstream of altered splice site)
300310STRANDmight get lost (downstream of altered splice site)
312326STRANDmight get lost (downstream of altered splice site)
335337STRANDmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
350350MUTAGENL->P: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
351354STRANDmight get lost (downstream of altered splice site)
364366STRANDmight get lost (downstream of altered splice site)
372375STRANDmight get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
382386STRANDmight get lost (downstream of altered splice site)
389391TURNmight get lost (downstream of altered splice site)
389426REPEATWD 5.might get lost (downstream of altered splice site)
397400STRANDmight get lost (downstream of altered splice site)
407410STRANDmight get lost (downstream of altered splice site)
412417STRANDmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 196 / 196
chromosome 11
strand 1
last intron/exon boundary 863
theoretical NMD boundary in CDS 617
length of CDS 717
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 20367
chromosomal position
(for ins/del: last normal base / first normal base)		 47256859
original gDNA sequence snippet GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA
altered gDNA sequence snippet GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQGL QQSFLHTLDS YRILQKAAPF DRRATSLAWH
PTHPSTVAVG SKGGDIMLWN FGIKDKPTFI KGAAWHPRYN LIVVGRYPDP NFKSCTPYEL
RTIDVFDGNS GKMMCQLYDP ESSGISSLNE FNPMGDTLAS AMGYHILIWS QEEARTRK*
mutated AA sequence N/A
speed 0.72 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM031666)
  • known disease mutation: rs8790 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:47256859G>TN/A show variant in all transcripts   IGV
HGNC symbol DDB2
Ensembl transcript ID ENST00000378601
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.936G>T
g.20367G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121434642
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8790 (pathogenic for Xeroderma pigmentosum, group E) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.8470.064
6.2621
(flanking)5.1711
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 246) splice site change occurs after stopcodon (at aa 248)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased20365wt: 0.20 / mu: 0.44wt: TGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCC
mu: TGGAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCC		 ccac|GGAC
Donor increased20360wt: 0.31 / mu: 0.92wt: CTCCTGACCACGGAC
mu: CTCCTGACCACGTAC		 CCTG|acca
Acc gained203710.53mu: CCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGAGTTT acca|GAAG
distance from splice site 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 196 / 196
chromosome 11
strand 1
last intron/exon boundary 1252
theoretical NMD boundary in CDS 1006
length of CDS 735
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 936
gDNA position
(for ins/del: last normal base / first normal base)		 20367
chromosomal position
(for ins/del: last normal base / first normal base)		 47256859
original gDNA sequence snippet GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA
altered gDNA sequence snippet GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA
original cDNA sequence snippet GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA
altered cDNA sequence snippet GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA
wildtype AA sequence MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQGL QQSFLHTLDS YRILQKAAPF DRRATSLAWH
PTHPSTVAVG SKGGDIMLWN FGIKDKPTFI KGIGAGGSIT GLKFNPLNTN QFYASSMEGT
TRLQDFKGNI LRVFASSDTI NIWFCSLDVS ASSRMVVTGD NVGNVILLNM DGKELVSVPM
EPGS*
mutated AA sequence N/A
speed 0.90 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