Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000368373
Querying Taster for transcript #2: ENST00000327247
Querying Taster for transcript #3: ENST00000427500
Querying Taster for transcript #4: ENST00000536770
Querying Taster for transcript #5: ENST00000428024
MT speed 0 s - this script 4.164375 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GBAdisease_causing_automatic0.999999894406135simple_aaeaffected0C381Gsingle base exchangers121908306show file
GBAdisease_causing_automatic0.999999894406135simple_aaeaffected0C381Gsingle base exchangers121908306show file
GBAdisease_causing_automatic0.999999894406135simple_aaeaffected0C268Gsingle base exchangers121908306show file
GBAdisease_causing_automatic0.99999992152874simple_aaeaffected0C332Gsingle base exchangers121908306show file
GBAdisease_causing_automatic0.99999992152874simple_aaeaffected0C294Gsingle base exchangers121908306show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999894406135 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM025357)
  • known disease mutation at this position (HGMD CM900105)
  • known disease mutation: rs4319 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:155206119A>CN/A show variant in all transcripts   IGV
HGNC symbol GBA
Ensembl transcript ID ENST00000368373
Genbank transcript ID NM_000157
UniProt peptide P04062
alteration type single base exchange
alteration region CDS
DNA changes c.1141T>G
cDNA.1263T>G
g.8535T>G
AA changes C381G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 381
frameshift no
known variant Reference ID: rs121908306
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4319 (pathogenic for Acute neuronopathic Gaucher's disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3461
3.5941
(flanking)0.4581
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 increased8530wt: 0.9011 / mu: 0.9329 (marginal change - not scored)wt: CACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGT
mu: CACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGT		 caga|GGCC
Acc marginally increased8527wt: 0.7574 / mu: 0.8371 (marginal change - not scored)wt: CAACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCA
mu: CAACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCA		 cctc|AGAG
Acc increased8528wt: 0.56 / mu: 0.67wt: AACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAA
mu: AACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAA		 ctca|GAGG
Acc increased8529wt: 0.62 / mu: 0.69wt: ACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAG
mu: ACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAG		 tcag|AGGC
Donor marginally increased8530wt: 0.6585 / mu: 0.6880 (marginal change - not scored)wt: CTCAGAGGCCTGTGT
mu: CTCAGAGGCCGGTGT		 CAGA|ggcc
distance from splice site 84
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      381FPNTMLFASEACVGSKFWEQSVRL
mutated  not conserved    381FPNTMLFASEAGVGSKFWEQSVR
Ptroglodytes  all identical  ENSPTRG00000001416  381FPNTMLFASEACVGSKFWEQSVR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  360CVGSKFWEQSVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  367LFGTEACAGWNPLDRGVK
Drerio  all identical  ENSDARG00000076058  363YPDYFLFATEACAGWSPVDRGVR
Dmelanogaster  all identical  FBgn0051148  408APDKILIVSESCIGDKPWQAAAP
Celegans  all identical  Y4C6B.6  363LATEACAG-YFPADGPK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
373381STRANDlost
379379ACT_SITENucleophile.might get lost (downstream of altered splice site)
379379MUTAGENE->G: Decreases activity 1000-fold.might get lost (downstream of altered splice site)
386388STRANDmight get lost (downstream of altered splice site)
396411HELIXmight get lost (downstream of altered splice site)
414424STRANDmight get lost (downstream of altered splice site)
426428STRANDmight get lost (downstream of altered splice site)
440444STRANDmight get lost (downstream of altered splice site)
445447HELIXmight get lost (downstream of altered splice site)
449452STRANDmight get lost (downstream of altered splice site)
454463HELIXmight get lost (downstream of altered splice site)
470470CONFLICTS -> I (in Ref. 15; AA sequence).might get lost (downstream of altered splice site)
471479STRANDmight get lost (downstream of altered splice site)
482489STRANDmight get lost (downstream of altered splice site)
495501STRANDmight get lost (downstream of altered splice site)
501501CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
503505STRANDmight get lost (downstream of altered splice site)
507513STRANDmight get lost (downstream of altered splice site)
514516TURNmight get lost (downstream of altered splice site)
517523STRANDmight get lost (downstream of altered splice site)
527533STRANDmight get lost (downstream of altered splice site)
534534CONFLICTR -> H (in Ref. 1; AAA35873).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1611 / 1611
position (AA) of stopcodon in wt / mu AA sequence 537 / 537
position of stopcodon in wt / mu cDNA 1733 / 1733
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 123 / 123
chromosome 1
strand -1
last intron/exon boundary 1628
theoretical NMD boundary in CDS 1455
length of CDS 1611
coding sequence (CDS) position 1141
cDNA position
(for ins/del: last normal base / first normal base)		 1263
gDNA position
(for ins/del: last normal base / first normal base)		 8535
chromosomal position
(for ins/del: last normal base / first normal base)		 155206119
original gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
original cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
wildtype AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*
mutated AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
ATLGETHRLF PNTMLFASEA GVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*
speed 0.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999894406135 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM025357)
  • known disease mutation at this position (HGMD CM900105)
  • known disease mutation: rs4319 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:155206119A>CN/A show variant in all transcripts   IGV
HGNC symbol GBA
Ensembl transcript ID ENST00000327247
Genbank transcript ID NM_001005741
UniProt peptide P04062
alteration type single base exchange
alteration region CDS
DNA changes c.1141T>G
cDNA.1374T>G
g.8535T>G
AA changes C381G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 381
frameshift no
known variant Reference ID: rs121908306
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4319 (pathogenic for Acute neuronopathic Gaucher's disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3461
3.5941
(flanking)0.4581
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 increased8530wt: 0.9011 / mu: 0.9329 (marginal change - not scored)wt: CACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGT
mu: CACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGT		 caga|GGCC
Acc marginally increased8527wt: 0.7574 / mu: 0.8371 (marginal change - not scored)wt: CAACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCA
mu: CAACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCA		 cctc|AGAG
Acc increased8528wt: 0.56 / mu: 0.67wt: AACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAA
mu: AACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAA		 ctca|GAGG
Acc increased8529wt: 0.62 / mu: 0.69wt: ACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAG
mu: ACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAG		 tcag|AGGC
Donor marginally increased8530wt: 0.6585 / mu: 0.6880 (marginal change - not scored)wt: CTCAGAGGCCTGTGT
mu: CTCAGAGGCCGGTGT		 CAGA|ggcc
distance from splice site 84
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      381FPNTMLFASEACVGSKFWEQSVRL
mutated  not conserved    381FPNTMLFASEAGVGSKFWEQSVR
Ptroglodytes  all identical  ENSPTRG00000001416  381FPNTMLFASEACVGSKFWEQSVR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  360CVGSKFWEQSVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  367LFGTEACAGWNPLDRGVK
Drerio  all identical  ENSDARG00000076058  363YPDYFLFATEACAGWSPVDRGVR
Dmelanogaster  all identical  FBgn0051148  408APDKILIVSESCIGDKPWQAAAP
Celegans  all identical  Y4C6B.6  363LATEACAG-YFPADGPK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
373381STRANDlost
379379ACT_SITENucleophile.might get lost (downstream of altered splice site)
379379MUTAGENE->G: Decreases activity 1000-fold.might get lost (downstream of altered splice site)
386388STRANDmight get lost (downstream of altered splice site)
396411HELIXmight get lost (downstream of altered splice site)
414424STRANDmight get lost (downstream of altered splice site)
426428STRANDmight get lost (downstream of altered splice site)
440444STRANDmight get lost (downstream of altered splice site)
445447HELIXmight get lost (downstream of altered splice site)
449452STRANDmight get lost (downstream of altered splice site)
454463HELIXmight get lost (downstream of altered splice site)
470470CONFLICTS -> I (in Ref. 15; AA sequence).might get lost (downstream of altered splice site)
471479STRANDmight get lost (downstream of altered splice site)
482489STRANDmight get lost (downstream of altered splice site)
495501STRANDmight get lost (downstream of altered splice site)
501501CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
503505STRANDmight get lost (downstream of altered splice site)
507513STRANDmight get lost (downstream of altered splice site)
514516TURNmight get lost (downstream of altered splice site)
517523STRANDmight get lost (downstream of altered splice site)
527533STRANDmight get lost (downstream of altered splice site)
534534CONFLICTR -> H (in Ref. 1; AAA35873).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1611 / 1611
position (AA) of stopcodon in wt / mu AA sequence 537 / 537
position of stopcodon in wt / mu cDNA 1844 / 1844
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 1
strand -1
last intron/exon boundary 1739
theoretical NMD boundary in CDS 1455
length of CDS 1611
coding sequence (CDS) position 1141
cDNA position
(for ins/del: last normal base / first normal base)		 1374
gDNA position
(for ins/del: last normal base / first normal base)		 8535
chromosomal position
(for ins/del: last normal base / first normal base)		 155206119
original gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
original cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
wildtype AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*
mutated AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
ATLGETHRLF PNTMLFASEA GVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*
speed 0.96 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: 0.999999894406135 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM025357)
  • known disease mutation at this position (HGMD CM900105)
  • known disease mutation: rs4319 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:155206119A>CN/A show variant in all transcripts   IGV
HGNC symbol GBA
Ensembl transcript ID ENST00000536770
Genbank transcript ID N/A
UniProt peptide P04062
alteration type single base exchange
alteration region CDS
DNA changes c.802T>G
cDNA.916T>G
g.8535T>G
AA changes C268G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 268
frameshift no
known variant Reference ID: rs121908306
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4319 (pathogenic for Acute neuronopathic Gaucher's disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3461
3.5941
(flanking)0.4581
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 increased8530wt: 0.9011 / mu: 0.9329 (marginal change - not scored)wt: CACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGT
mu: CACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGT		 caga|GGCC
Acc marginally increased8527wt: 0.7574 / mu: 0.8371 (marginal change - not scored)wt: CAACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCA
mu: CAACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCA		 cctc|AGAG
Acc increased8528wt: 0.56 / mu: 0.67wt: AACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAA
mu: AACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAA		 ctca|GAGG
Acc increased8529wt: 0.62 / mu: 0.69wt: ACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAG
mu: ACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAG		 tcag|AGGC
Donor marginally increased8530wt: 0.6585 / mu: 0.6880 (marginal change - not scored)wt: CTCAGAGGCCTGTGT
mu: CTCAGAGGCCGGTGT		 CAGA|ggcc
distance from splice site 84
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      268FPNTMLFASEACVGSKFWEQSVRL
mutated  not conserved    268FPNTMLFASEAGVGSKFWEQSVR
Ptroglodytes  all identical  ENSPTRG00000001416  381FPNTMLFASEACVGSKFWEQSVR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  360EACVGSKFWEQSVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  367YPEYYLFGTEACAGWNPLDRGVK
Drerio  all identical  ENSDARG00000076058  363YPDYFLFATEACAGWSPVDRGVR
Dmelanogaster  all identical  FBgn0051148  407APDKILIVSESCIGDKPW
Celegans  all identical  Y4C6B.6  364FPDYFLLATEACAG-YFPADG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
267271STRANDlost
274274ACT_SITEProton donor.might get lost (downstream of altered splice site)
275279HELIXmight get lost (downstream of altered splice site)
284286STRANDmight get lost (downstream of altered splice site)
292301HELIXmight get lost (downstream of altered splice site)
303308HELIXmight get lost (downstream of altered splice site)
309309CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
311314TURNmight get lost (downstream of altered splice site)
315323STRANDmight get lost (downstream of altered splice site)
324326HELIXmight get lost (downstream of altered splice site)
329335HELIXmight get lost (downstream of altered splice site)
338341HELIXmight get lost (downstream of altered splice site)
346352STRANDmight get lost (downstream of altered splice site)
354356HELIXmight get lost (downstream of altered splice site)
359369HELIXmight get lost (downstream of altered splice site)
373381STRANDmight get lost (downstream of altered splice site)
379379MUTAGENE->G: Decreases activity 1000-fold.might get lost (downstream of altered splice site)
379379ACT_SITENucleophile.might get lost (downstream of altered splice site)
386388STRANDmight get lost (downstream of altered splice site)
396411HELIXmight get lost (downstream of altered splice site)
414424STRANDmight get lost (downstream of altered splice site)
426428STRANDmight get lost (downstream of altered splice site)
440444STRANDmight get lost (downstream of altered splice site)
445447HELIXmight get lost (downstream of altered splice site)
449452STRANDmight get lost (downstream of altered splice site)
454463HELIXmight get lost (downstream of altered splice site)
470470CONFLICTS -> I (in Ref. 15; AA sequence).might get lost (downstream of altered splice site)
471479STRANDmight get lost (downstream of altered splice site)
482489STRANDmight get lost (downstream of altered splice site)
495501STRANDmight get lost (downstream of altered splice site)
501501CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
503505STRANDmight get lost (downstream of altered splice site)
507513STRANDmight get lost (downstream of altered splice site)
514516TURNmight get lost (downstream of altered splice site)
517523STRANDmight get lost (downstream of altered splice site)
527533STRANDmight get lost (downstream of altered splice site)
534534CONFLICTR -> H (in Ref. 1; AAA35873).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1272 / 1272
position (AA) of stopcodon in wt / mu AA sequence 424 / 424
position of stopcodon in wt / mu cDNA 1386 / 1386
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 115 / 115
chromosome 1
strand -1
last intron/exon boundary 1281
theoretical NMD boundary in CDS 1116
length of CDS 1272
coding sequence (CDS) position 802
cDNA position
(for ins/del: last normal base / first normal base)		 916
gDNA position
(for ins/del: last normal base / first normal base)		 8535
chromosomal position
(for ins/del: last normal base / first normal base)		 155206119
original gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
original cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
wildtype AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGI GYNIIRVPMA SCDFSIRTYT
YADTPDDFQL HNFSLPEEDT KLKIPLIHRA LQLAQRPVSL LASPWTSPTW LKTNGAVNGK
GSLKGQPGDI YHQTWARYFV KFLDAYAEHK LQFWAVTAEN EPSAGLLSGY PFQCLGFTPE
HQRDFIARDL GPTLANSTHH NVRLLMLDDQ RLLLPHWAKV VLTDPEAAKY VHGIAVHWYL
DFLAPAKATL GETHRLFPNT MLFASEACVG SKFWEQSVRL GSWDRGMQYS HSIITNLLYH
VVGWTDWNLA LNPEGGPNWV RNFVDSPIIV DITKDTFYKQ PMFYHLGHFS KFIPEGSQRV
GLVASQKNDL DAVALMHPDG SAVVVVLNRS SKDVPLTIKD PAVGFLETIS PGYSIHTYLW
RRQ*
mutated AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGI GYNIIRVPMA SCDFSIRTYT
YADTPDDFQL HNFSLPEEDT KLKIPLIHRA LQLAQRPVSL LASPWTSPTW LKTNGAVNGK
GSLKGQPGDI YHQTWARYFV KFLDAYAEHK LQFWAVTAEN EPSAGLLSGY PFQCLGFTPE
HQRDFIARDL GPTLANSTHH NVRLLMLDDQ RLLLPHWAKV VLTDPEAAKY VHGIAVHWYL
DFLAPAKATL GETHRLFPNT MLFASEAGVG SKFWEQSVRL GSWDRGMQYS HSIITNLLYH
VVGWTDWNLA LNPEGGPNWV RNFVDSPIIV DITKDTFYKQ PMFYHLGHFS KFIPEGSQRV
GLVASQKNDL DAVALMHPDG SAVVVVLNRS SKDVPLTIKD PAVGFLETIS PGYSIHTYLW
RRQ*
speed 0.98 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: 0.99999992152874 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM025357)
  • known disease mutation at this position (HGMD CM900105)
  • known disease mutation: rs4319 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:155206119A>CN/A show variant in all transcripts   IGV
HGNC symbol GBA
Ensembl transcript ID ENST00000427500
Genbank transcript ID NM_001171812
UniProt peptide P04062
alteration type single base exchange
alteration region CDS
DNA changes c.994T>G
cDNA.1157T>G
g.8535T>G
AA changes C332G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 332
frameshift no
known variant Reference ID: rs121908306
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4319 (pathogenic for Acute neuronopathic Gaucher's disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3461
3.5941
(flanking)0.4581
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 increased8530wt: 0.9011 / mu: 0.9329 (marginal change - not scored)wt: CACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGT
mu: CACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGT		 caga|GGCC
Acc marginally increased8527wt: 0.7574 / mu: 0.8371 (marginal change - not scored)wt: CAACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCA
mu: CAACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCA		 cctc|AGAG
Acc increased8528wt: 0.56 / mu: 0.67wt: AACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAA
mu: AACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAA		 ctca|GAGG
Acc increased8529wt: 0.62 / mu: 0.69wt: ACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAG
mu: ACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAG		 tcag|AGGC
Donor marginally increased8530wt: 0.6585 / mu: 0.6880 (marginal change - not scored)wt: CTCAGAGGCCTGTGT
mu: CTCAGAGGCCGGTGT		 CAGA|ggcc
distance from splice site 84
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      332FPNTMLFASEACVGSKFWEQSVRL
mutated  not conserved    332FPNTMLFASEAGVGSKFWEQSVR
Ptroglodytes  all identical  ENSPTRG00000001416  381FPNTMLFASEACVGSKFWEQSVR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  360CVGSKFWEQSVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  367LFGTEACAGWNPLDRGVK
Drerio  all identical  ENSDARG00000076058  363YPDYFLFATEACAGWSPVDRGVR
Dmelanogaster  all identical  FBgn0051148  407APDKILIVSESCIGDKPW
Celegans  all identical  Y4C6B.6  363ACAG-YFPADGPK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
329335HELIXlost
338341HELIXmight get lost (downstream of altered splice site)
346352STRANDmight get lost (downstream of altered splice site)
354356HELIXmight get lost (downstream of altered splice site)
359369HELIXmight get lost (downstream of altered splice site)
373381STRANDmight get lost (downstream of altered splice site)
379379MUTAGENE->G: Decreases activity 1000-fold.might get lost (downstream of altered splice site)
379379ACT_SITENucleophile.might get lost (downstream of altered splice site)
386388STRANDmight get lost (downstream of altered splice site)
396411HELIXmight get lost (downstream of altered splice site)
414424STRANDmight get lost (downstream of altered splice site)
426428STRANDmight get lost (downstream of altered splice site)
440444STRANDmight get lost (downstream of altered splice site)
445447HELIXmight get lost (downstream of altered splice site)
449452STRANDmight get lost (downstream of altered splice site)
454463HELIXmight get lost (downstream of altered splice site)
470470CONFLICTS -> I (in Ref. 15; AA sequence).might get lost (downstream of altered splice site)
471479STRANDmight get lost (downstream of altered splice site)
482489STRANDmight get lost (downstream of altered splice site)
495501STRANDmight get lost (downstream of altered splice site)
501501CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
503505STRANDmight get lost (downstream of altered splice site)
507513STRANDmight get lost (downstream of altered splice site)
514516TURNmight get lost (downstream of altered splice site)
517523STRANDmight get lost (downstream of altered splice site)
527533STRANDmight get lost (downstream of altered splice site)
534534CONFLICTR -> H (in Ref. 1; AAA35873).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1464 / 1464
position (AA) of stopcodon in wt / mu AA sequence 488 / 488
position of stopcodon in wt / mu cDNA 1627 / 1627
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 164 / 164
chromosome 1
strand -1
last intron/exon boundary 1522
theoretical NMD boundary in CDS 1308
length of CDS 1464
coding sequence (CDS) position 994
cDNA position
(for ins/del: last normal base / first normal base)		 1157
gDNA position
(for ins/del: last normal base / first normal base)		 8535
chromosomal position
(for ins/del: last normal base / first normal base)		 155206119
original gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
original cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
wildtype AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGIGYNIIR VPMASCDFSI
RTYTYADTPD DFQLHNFSLP EEDTKLKIPL IHRALQLAQR PVSLLASPWT SPTWLKTNGA
VNGKGSLKGQ PGDIYHQTWA RYFVKFLDAY AEHKLQFWAV TAENEPSAGL LSGYPFQCLG
FTPEHQRDFI ARDLGPTLAN STHHNVRLLM LDDQRLLLPH WAKVVLTDPE AAKYVHGIAV
HWYLDFLAPA KATLGETHRL FPNTMLFASE ACVGSKFWEQ SVRLGSWDRG MQYSHSIITN
LLYHVVGWTD WNLALNPEGG PNWVRNFVDS PIIVDITKDT FYKQPMFYHL GHFSKFIPEG
SQRVGLVASQ KNDLDAVALM HPDGSAVVVV LNRSSKDVPL TIKDPAVGFL ETISPGYSIH
TYLWRRQ*
mutated AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGIGYNIIR VPMASCDFSI
RTYTYADTPD DFQLHNFSLP EEDTKLKIPL IHRALQLAQR PVSLLASPWT SPTWLKTNGA
VNGKGSLKGQ PGDIYHQTWA RYFVKFLDAY AEHKLQFWAV TAENEPSAGL LSGYPFQCLG
FTPEHQRDFI ARDLGPTLAN STHHNVRLLM LDDQRLLLPH WAKVVLTDPE AAKYVHGIAV
HWYLDFLAPA KATLGETHRL FPNTMLFASE AGVGSKFWEQ SVRLGSWDRG MQYSHSIITN
LLYHVVGWTD WNLALNPEGG PNWVRNFVDS PIIVDITKDT FYKQPMFYHL GHFSKFIPEG
SQRVGLVASQ KNDLDAVALM HPDGSAVVVV LNRSSKDVPL TIKDPAVGFL ETISPGYSIH
TYLWRRQ*
speed 0.97 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: 0.99999992152874 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM025357)
  • known disease mutation at this position (HGMD CM900105)
  • known disease mutation: rs4319 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:155206119A>CN/A show variant in all transcripts   IGV
HGNC symbol GBA
Ensembl transcript ID ENST00000428024
Genbank transcript ID NM_001171811
UniProt peptide P04062
alteration type single base exchange
alteration region CDS
DNA changes c.880T>G
cDNA.1383T>G
g.8535T>G
AA changes C294G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 294
frameshift no
known variant Reference ID: rs121908306
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4319 (pathogenic for Acute neuronopathic Gaucher's disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3461
3.5941
(flanking)0.4581
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 increased8530wt: 0.9011 / mu: 0.9329 (marginal change - not scored)wt: CACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGT
mu: CACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGT		 caga|GGCC
Acc marginally increased8527wt: 0.7574 / mu: 0.8371 (marginal change - not scored)wt: CAACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCA
mu: CAACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCA		 cctc|AGAG
Acc increased8528wt: 0.56 / mu: 0.67wt: AACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAA
mu: AACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAA		 ctca|GAGG
Acc increased8529wt: 0.62 / mu: 0.69wt: ACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAG
mu: ACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAG		 tcag|AGGC
Donor marginally increased8530wt: 0.6585 / mu: 0.6880 (marginal change - not scored)wt: CTCAGAGGCCTGTGT
mu: CTCAGAGGCCGGTGT		 CAGA|ggcc
distance from splice site 84
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      294FPNTMLFASEACVGSKFWEQSVRL
mutated  not conserved    294FPNTMLFASEAGVGSKFW
Ptroglodytes  all identical  ENSPTRG00000001416  381FPNTMLFASEACVGSKFW
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  360FPNTMLFASEACVGSKFW
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  367YPEYYLFGTEACAGWNPL
Drerio  all identical  ENSDARG00000076058  363YPDYFLFATEACAGWSPVDRG
Dmelanogaster  all identical  FBgn0051148  408APDKILIVSESCIGDKPWQAAAP
Celegans  all identical  Y4C6B.6  364FPDYFLLATEACAG-YFPADGPK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
292301HELIXlost
303308HELIXmight get lost (downstream of altered splice site)
309309CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
311314TURNmight get lost (downstream of altered splice site)
315323STRANDmight get lost (downstream of altered splice site)
324326HELIXmight get lost (downstream of altered splice site)
329335HELIXmight get lost (downstream of altered splice site)
338341HELIXmight get lost (downstream of altered splice site)
346352STRANDmight get lost (downstream of altered splice site)
354356HELIXmight get lost (downstream of altered splice site)
359369HELIXmight get lost (downstream of altered splice site)
373381STRANDmight get lost (downstream of altered splice site)
379379ACT_SITENucleophile.might get lost (downstream of altered splice site)
379379MUTAGENE->G: Decreases activity 1000-fold.might get lost (downstream of altered splice site)
386388STRANDmight get lost (downstream of altered splice site)
396411HELIXmight get lost (downstream of altered splice site)
414424STRANDmight get lost (downstream of altered splice site)
426428STRANDmight get lost (downstream of altered splice site)
440444STRANDmight get lost (downstream of altered splice site)
445447HELIXmight get lost (downstream of altered splice site)
449452STRANDmight get lost (downstream of altered splice site)
454463HELIXmight get lost (downstream of altered splice site)
470470CONFLICTS -> I (in Ref. 15; AA sequence).might get lost (downstream of altered splice site)
471479STRANDmight get lost (downstream of altered splice site)
482489STRANDmight get lost (downstream of altered splice site)
495501STRANDmight get lost (downstream of altered splice site)
501501CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
503505STRANDmight get lost (downstream of altered splice site)
507513STRANDmight get lost (downstream of altered splice site)
514516TURNmight get lost (downstream of altered splice site)
517523STRANDmight get lost (downstream of altered splice site)
527533STRANDmight get lost (downstream of altered splice site)
534534CONFLICTR -> H (in Ref. 1; AAA35873).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1350 / 1350
position (AA) of stopcodon in wt / mu AA sequence 450 / 450
position of stopcodon in wt / mu cDNA 1853 / 1853
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 504 / 504
chromosome 1
strand -1
last intron/exon boundary 1748
theoretical NMD boundary in CDS 1194
length of CDS 1350
coding sequence (CDS) position 880
cDNA position
(for ins/del: last normal base / first normal base)		 1383
gDNA position
(for ins/del: last normal base / first normal base)		 8535
chromosomal position
(for ins/del: last normal base / first normal base)		 155206119
original gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
original cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
wildtype AA sequence MELSMGPIQA NHTGTGLLLT LQPEQKFQKV KGFGGAMTDA AALNILALSP PAQNLLLKSY
FSEEGIGYNI IRVPMASCDF SIRTYTYADT PDDFQLHNFS LPEEDTKLKI PLIHRALQLA
QRPVSLLASP WTSPTWLKTN GAVNGKGSLK GQPGDIYHQT WARYFVKFLD AYAEHKLQFW
AVTAENEPSA GLLSGYPFQC LGFTPEHQRD FIARDLGPTL ANSTHHNVRL LMLDDQRLLL
PHWAKVVLTD PEAAKYVHGI AVHWYLDFLA PAKATLGETH RLFPNTMLFA SEACVGSKFW
EQSVRLGSWD RGMQYSHSII TNLLYHVVGW TDWNLALNPE GGPNWVRNFV DSPIIVDITK
DTFYKQPMFY HLGHFSKFIP EGSQRVGLVA SQKNDLDAVA LMHPDGSAVV VVLNRSSKDV
PLTIKDPAVG FLETISPGYS IHTYLWRRQ*
mutated AA sequence MELSMGPIQA NHTGTGLLLT LQPEQKFQKV KGFGGAMTDA AALNILALSP PAQNLLLKSY
FSEEGIGYNI IRVPMASCDF SIRTYTYADT PDDFQLHNFS LPEEDTKLKI PLIHRALQLA
QRPVSLLASP WTSPTWLKTN GAVNGKGSLK GQPGDIYHQT WARYFVKFLD AYAEHKLQFW
AVTAENEPSA GLLSGYPFQC LGFTPEHQRD FIARDLGPTL ANSTHHNVRL LMLDDQRLLL
PHWAKVVLTD PEAAKYVHGI AVHWYLDFLA PAKATLGETH RLFPNTMLFA SEAGVGSKFW
EQSVRLGSWD RGMQYSHSII TNLLYHVVGW TDWNLALNPE GGPNWVRNFV DSPIIVDITK
DTFYKQPMFY HLGHFSKFIP EGSQRVGLVA SQKNDLDAVA LMHPDGSAVV VVLNRSSKDV
PLTIKDPAVG FLETISPGYS IHTYLWRRQ*
speed 0.15 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