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: ENST00000476854
Querying Taster for transcript #2: ENST00000476351
Querying Taster for transcript #3: ENST00000494103
Querying Taster for transcript #4: ENST00000404366
Querying Taster for transcript #5: ENST00000458031
Querying Taster for transcript #6: ENST00000463937
MT speed 0 s - this script 4.904559 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACY1disease_causing_automatic0.0122955201780497simple_aae0R197Wsingle base exchangers121912700show file
ACY1disease_causing_automatic0.0122955201780497simple_aae0R197Wsingle base exchangers121912700show file
ACY1disease_causing_automatic0.0122955201780497simple_aae0R287Wsingle base exchangers121912700show file
ABHD14A-ACY1disease_causing_automatic0.0305186603886822simple_aae0R298Wsingle base exchangers121912700show file
ACY1disease_causing_automatic0.0705178662915554simple_aae0R125Wsingle base exchangers121912700show file
ACY1disease_causing_automatic0.0705178662915555simple_aae0R162Wsingle base exchangers121912700show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.0122955201780497 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM072835)
  • known disease mutation: rs18113 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:52021009C>TN/A show variant in all transcripts   IGV
HGNC symbol ACY1
Ensembl transcript ID ENST00000476854
Genbank transcript ID NM_001198897
UniProt peptide Q03154
alteration type single base exchange
alteration region CDS
DNA changes c.589C>T
cDNA.754C>T
g.11944C>T
AA changes R197W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 197
frameshift no
known variant Reference ID: rs121912700
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs18113 (pathogenic for Aminoacylase 1 deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)

known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0260.688
1.7470.679
(flanking)0.8880.476
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 increased11935wt: 0.6770 / mu: 0.7186 (marginal change - not scored)wt: TGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGC
mu: TGCCTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGC		 tccc|CAGG
Acc marginally decreased11938wt: 0.9542 / mu: 0.9480 (marginal change - not scored)wt: CTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACT
mu: CTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGCACT		 ccag|GGGT
Donor marginally increased11937wt: 0.8749 / mu: 0.9227 (marginal change - not scored)wt: TCCCCAGGGGTGCGG
mu: TCCCCAGGGGTGTGG		 CCCA|gggg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      197VFYSERSPWWVRVTSTGRPGHASR
mutated  not conserved    197VFYSERSPWWVWVTSTGRPGHAS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000003646  60VFYSERSPWWVRVTSTGRPGHGS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000023262  197VFYSERSPWWVQVTSTGKPGHAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000014223  208FYGERNPWWITIHCPGSPGHGS
Drerio  not conserved  ENSDARG00000038475  209VFYGERNPWWITVRCPGSPGHGS
Dmelanogaster  all identical  FBgn0039049  197YYAERTLWHLRFKISGTAGHGS
Celegans  all conserved  C06A6.4  192YAERIPWWVKVTLPGHPGHGS
Xtropicalis  not conserved  ENSXETG00000000089  209VFYGEKCPWWITVHCGGDPGHGSRFIENTAAAKLHSVIS
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1032 / 1032
position (AA) of stopcodon in wt / mu AA sequence 344 / 344
position of stopcodon in wt / mu cDNA 1197 / 1197
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 166 / 166
chromosome 3
strand 1
last intron/exon boundary 1033
theoretical NMD boundary in CDS 817
length of CDS 1032
coding sequence (CDS) position 589
cDNA position
(for ins/del: last normal base / first normal base)		 754
gDNA position
(for ins/del: last normal base / first normal base)		 11944
chromosomal position
(for ins/del: last normal base / first normal base)		 52021009
original gDNA sequence snippet CCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGG
altered gDNA sequence snippet CCTACACCTCCCCAGGGGTGTGGGTTACCAGCACTGGGAGG
original cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGCGGGTTACCAGCACTGGGAGG
altered cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGTGGGTTACCAGCACTGGGAGG
wildtype AA sequence MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV
TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK DSEGYIYARG AQDMKCVSIQ
YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG GHQGMELFVQ RPEFHALRAG FALDEGIANP
TDAFTVFYSE RSPWWVRVTS TGRPGHASRF MEDTAAEKLA FEEQLQSWCQ AAGEGVTLEF
AQKWMHPQVT PTDDSNPWWA AFSRVCKDMN LTLEPEIMPA ATDNRYIRAV GVPALGFSPM
NRTPVLLHDH DERLHEAVFL RGVDIYTRLL PALASVPALP SDS*
mutated AA sequence MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV
TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK DSEGYIYARG AQDMKCVSIQ
YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG GHQGMELFVQ RPEFHALRAG FALDEGIANP
TDAFTVFYSE RSPWWVWVTS TGRPGHASRF MEDTAAEKLA FEEQLQSWCQ AAGEGVTLEF
AQKWMHPQVT PTDDSNPWWA AFSRVCKDMN LTLEPEIMPA ATDNRYIRAV GVPALGFSPM
NRTPVLLHDH DERLHEAVFL RGVDIYTRLL PALASVPALP SDS*
speed 0.85 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: 0.0122955201780497 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM072835)
  • known disease mutation: rs18113 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:52021009C>TN/A show variant in all transcripts   IGV
HGNC symbol ACY1
Ensembl transcript ID ENST00000404366
Genbank transcript ID NM_000666
UniProt peptide Q03154
alteration type single base exchange
alteration region CDS
DNA changes c.589C>T
cDNA.735C>T
g.11944C>T
AA changes R197W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 197
frameshift no
known variant Reference ID: rs121912700
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs18113 (pathogenic for Aminoacylase 1 deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)

known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0260.688
1.7470.679
(flanking)0.8880.476
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 increased11935wt: 0.6770 / mu: 0.7186 (marginal change - not scored)wt: TGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGC
mu: TGCCTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGC		 tccc|CAGG
Acc marginally decreased11938wt: 0.9542 / mu: 0.9480 (marginal change - not scored)wt: CTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACT
mu: CTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGCACT		 ccag|GGGT
Donor marginally increased11937wt: 0.8749 / mu: 0.9227 (marginal change - not scored)wt: TCCCCAGGGGTGCGG
mu: TCCCCAGGGGTGTGG		 CCCA|gggg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      197VFYSERSPWWVRVTSTGRPGHASR
mutated  not conserved    197VFYSERSPWWVWVTSTGRPGHAS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000003646  60VFYSERSPWWVRVTSTGRPGHGS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000023262  197VFYSERSPWWVQVTSTGKPGHAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000014223  208FYGERNPWWITIHCPGSPGHGS
Drerio  not conserved  ENSDARG00000038475  209VFYGERNPWWITVRCPGSPGHGS
Dmelanogaster  all identical  FBgn0039049  197YYAERTLWHLRFKISGTAGHGS
Celegans  all conserved  C06A6.4  192YAERIPWWVKVTLPGHPGHGS
Xtropicalis  not conserved  ENSXETG00000000089  209VFYGEKCPWWITVHCGGDPGHGS
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1227 / 1227
position (AA) of stopcodon in wt / mu AA sequence 409 / 409
position of stopcodon in wt / mu cDNA 1373 / 1373
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 147 / 147
chromosome 3
strand 1
last intron/exon boundary 1209
theoretical NMD boundary in CDS 1012
length of CDS 1227
coding sequence (CDS) position 589
cDNA position
(for ins/del: last normal base / first normal base)		 735
gDNA position
(for ins/del: last normal base / first normal base)		 11944
chromosomal position
(for ins/del: last normal base / first normal base)		 52021009
original gDNA sequence snippet CCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGG
altered gDNA sequence snippet CCTACACCTCCCCAGGGGTGTGGGTTACCAGCACTGGGAGG
original cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGCGGGTTACCAGCACTGGGAGG
altered cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGTGGGTTACCAGCACTGGGAGG
wildtype AA sequence MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV
TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK DSEGYIYARG AQDMKCVSIQ
YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG GHQGMELFVQ RPEFHALRAG FALDEGIANP
TDAFTVFYSE RSPWWVRVTS TGRPGHASRF MEDTAAEKLH KVVNSILAFR EKEWQRLQSN
PHLKEGSVTS VNLTKLEGGV AYNVIPATMS ASFDFRVAPD VDFKAFEEQL QSWCQAAGEG
VTLEFAQKWM HPQVTPTDDS NPWWAAFSRV CKDMNLTLEP EIMPAATDNR YIRAVGVPAL
GFSPMNRTPV LLHDHDERLH EAVFLRGVDI YTRLLPALAS VPALPSDS*
mutated AA sequence MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV
TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK DSEGYIYARG AQDMKCVSIQ
YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG GHQGMELFVQ RPEFHALRAG FALDEGIANP
TDAFTVFYSE RSPWWVWVTS TGRPGHASRF MEDTAAEKLH KVVNSILAFR EKEWQRLQSN
PHLKEGSVTS VNLTKLEGGV AYNVIPATMS ASFDFRVAPD VDFKAFEEQL QSWCQAAGEG
VTLEFAQKWM HPQVTPTDDS NPWWAAFSRV CKDMNLTLEP EIMPAATDNR YIRAVGVPAL
GFSPMNRTPV LLHDHDERLH EAVFLRGVDI YTRLLPALAS VPALPSDS*
speed 0.66 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: 0.0122955201780497 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM072835)
  • known disease mutation: rs18113 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:52021009C>TN/A show variant in all transcripts   IGV
HGNC symbol ACY1
Ensembl transcript ID ENST00000458031
Genbank transcript ID N/A
UniProt peptide Q03154
alteration type single base exchange
alteration region CDS
DNA changes c.859C>T
cDNA.1090C>T
g.11944C>T
AA changes R287W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 287
frameshift no
known variant Reference ID: rs121912700
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs18113 (pathogenic for Aminoacylase 1 deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)

known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0260.688
1.7470.679
(flanking)0.8880.476
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 increased11935wt: 0.6770 / mu: 0.7186 (marginal change - not scored)wt: TGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGC
mu: TGCCTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGC		 tccc|CAGG
Acc marginally decreased11938wt: 0.9542 / mu: 0.9480 (marginal change - not scored)wt: CTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACT
mu: CTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGCACT		 ccag|GGGT
Donor marginally increased11937wt: 0.8749 / mu: 0.9227 (marginal change - not scored)wt: TCCCCAGGGGTGCGG
mu: TCCCCAGGGGTGTGG		 CCCA|gggg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      287VFYSERSPWWVRVTSTGRPGHASR
mutated  not conserved    287VFYSERSPWWVWVTSTGRPGHAS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000003646  60VFYSERSPWWVRVTSTGRPGHGS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000023262  197VFYSERSPWWVQVTSTGKPGHAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000014223  208FYGERNPWWITIHCPGSPGHGS
Drerio  not conserved  ENSDARG00000038475  209VFYGERNPWWITVRCPGSPGHGS
Dmelanogaster  all identical  FBgn0039049  197YYAERTLWHLRFKISGTAGHGS
Celegans  all conserved  C06A6.4  192YAERIPWWVKVTLPGHPGHGS
Xtropicalis  not conserved  ENSXETG00000000089  209VFYGEKCPWWITVHCGGDPGHGS
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 1728 / 1728
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 232 / 232
chromosome 3
strand 1
last intron/exon boundary 1564
theoretical NMD boundary in CDS 1282
length of CDS 1497
coding sequence (CDS) position 859
cDNA position
(for ins/del: last normal base / first normal base)		 1090
gDNA position
(for ins/del: last normal base / first normal base)		 11944
chromosomal position
(for ins/del: last normal base / first normal base)		 52021009
original gDNA sequence snippet CCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGG
altered gDNA sequence snippet CCTACACCTCCCCAGGGGTGTGGGTTACCAGCACTGGGAGG
original cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGCGGGTTACCAGCACTGGGAGG
altered cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGTGGGTTACCAGCACTGGGAGG
wildtype AA sequence MWGCQAPLSR LPASGETPMS QSWLVSPLAT RPSFTARCSH STRHTGWRWC CFMERPLTLT
RGSSWAHCSY CHRGATGPWP LTFQLTTRSA MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD
YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV TVLTWPGTNP TLSSILLNSH TDVVPVFKEH
WSHDPFEAFK DSEGYIYARG AQDMKCVSIQ YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG
GHQGMELFVQ RPEFHALRAG FALDEGIANP TDAFTVFYSE RSPWWVRVTS TGRPGHASRF
MEDTAAEKLH KVVNSILAFR EKEWQRLQSN PHLKEGSVTS VNLTKLEGGV AYNVIPATMS
ASFDFRVAPD VDFKAFEEQL QSWCQAAGEG VTLEFAQKWM HPQVTPTDDS NPWWAAFSRV
CKDMNLTLEP EIMPAATDNR YIRAVGVPAL GFSPMNRTPV LLHDHDERLH EAVFLRGVDI
YTRLLPALAS VPALPSDS*
mutated AA sequence MWGCQAPLSR LPASGETPMS QSWLVSPLAT RPSFTARCSH STRHTGWRWC CFMERPLTLT
RGSSWAHCSY CHRGATGPWP LTFQLTTRSA MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD
YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV TVLTWPGTNP TLSSILLNSH TDVVPVFKEH
WSHDPFEAFK DSEGYIYARG AQDMKCVSIQ YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG
GHQGMELFVQ RPEFHALRAG FALDEGIANP TDAFTVFYSE RSPWWVWVTS TGRPGHASRF
MEDTAAEKLH KVVNSILAFR EKEWQRLQSN PHLKEGSVTS VNLTKLEGGV AYNVIPATMS
ASFDFRVAPD VDFKAFEEQL QSWCQAAGEG VTLEFAQKWM HPQVTPTDDS NPWWAAFSRV
CKDMNLTLEP EIMPAATDNR YIRAVGVPAL GFSPMNRTPV LLHDHDERLH EAVFLRGVDI
YTRLLPALAS VPALPSDS*
speed 0.73 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: 0.0305186603886822 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM072835)
  • known disease mutation: rs18113 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:52021009C>TN/A show variant in all transcripts   IGV
HGNC symbol ABHD14A-ACY1
Ensembl transcript ID ENST00000463937
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.892C>T
cDNA.968C>T
g.11944C>T
AA changes R298W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 298
frameshift no
known variant Reference ID: rs121912700
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs18113 (pathogenic for Aminoacylase 1 deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)

known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0260.688
1.7470.679
(flanking)0.8880.476
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 increased11935wt: 0.6770 / mu: 0.7186 (marginal change - not scored)wt: TGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGC
mu: TGCCTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGC		 tccc|CAGG
Acc marginally decreased11938wt: 0.9542 / mu: 0.9480 (marginal change - not scored)wt: CTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACT
mu: CTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGCACT		 ccag|GGGT
Donor marginally increased11937wt: 0.8749 / mu: 0.9227 (marginal change - not scored)wt: TCCCCAGGGGTGCGG
mu: TCCCCAGGGGTGTGG		 CCCA|gggg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298VFYSERSPWWVRVTSTGRPGHASR
mutated  not conserved    298VFYSERSPWWVWVT
Ptroglodytes  all identical  ENSPTRG00000014986  298VFYSERSPWWVRVT
Mmulatta  all identical  ENSMMUG00000003646  60VFYSERSPWWVRVTSTGRPGHGS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000023262  197VFYSERSPWWVQVTSTGKPGHAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000014223  208VFYGERNPWWITIHCPGSPGHGS
Drerio  not conserved  ENSDARG00000038475  209VFYGERNPWWITVRCPGSPGHGS
Dmelanogaster  all identical  FBgn0039049  197LYYAERTLWHLRFKISGTAGHGS
Celegans  all conserved  C06A6.4  192IFYAERIPWWVKVTLPGHPGHGS
Xtropicalis  not conserved  ENSXETG00000000089  209VFYGEKCPWWITVHCGGDPGHGS
protein features N/A
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1530 / 1530
position (AA) of stopcodon in wt / mu AA sequence 510 / 510
position of stopcodon in wt / mu cDNA 1606 / 1606
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 77 / 77
chromosome 3
strand 1
last intron/exon boundary 1442
theoretical NMD boundary in CDS 1315
length of CDS 1530
coding sequence (CDS) position 892
cDNA position
(for ins/del: last normal base / first normal base)		 968
gDNA position
(for ins/del: last normal base / first normal base)		 11944
chromosomal position
(for ins/del: last normal base / first normal base)		 52021009
original gDNA sequence snippet CCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGG
altered gDNA sequence snippet CCTACACCTCCCCAGGGGTGTGGGTTACCAGCACTGGGAGG
original cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGCGGGTTACCAGCACTGGGAGG
altered cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGTGGGTTACCAGCACTGGGAGG
wildtype AA sequence MVGALCGCWF RLGGARPLIP LGPTVVQTSM SRSQVALLGL SLLLMLLLYV GLPGPPEQTS
CLWGDPNVTV LAGLTPGNSP IFYREVLPLN QAHRVEVVLL HGKAFNSHTW EQLGTLQLLS
QRGYRAVALD LPGAAVAFFE ETARQLGLGC QKVEVAPGYV VTVLTWPGTN PTLSSILLNS
HTDVVPVFKE HWSHDPFEAF KDSEGYIYAR GAQDMKCVSI QYLEAVRRLK VEGHRFPRTI
HMTFVPDEEV GGHQGMELFV QRPEFHALRA GFALDEGIAN PTDAFTVFYS ERSPWWVRVT
STGRPGHASR FMEDTAAEKL HKVVNSILAF REKEWQRLQS NPHLKEGSVT SVNLTKLEGG
VAYNVIPATM SASFDFRVAP DVDFKAFEEQ LQSWCQAAGE GVTLEFAQKW MHPQVTPTDD
SNPWWAAFSR VCKDMNLTLE PEIMPAATDN RYIRAVGVPA LGFSPMNRTP VLLHDHDERL
HEAVFLRGVD IYTRLLPALA SVPALPSDS*
mutated AA sequence MVGALCGCWF RLGGARPLIP LGPTVVQTSM SRSQVALLGL SLLLMLLLYV GLPGPPEQTS
CLWGDPNVTV LAGLTPGNSP IFYREVLPLN QAHRVEVVLL HGKAFNSHTW EQLGTLQLLS
QRGYRAVALD LPGAAVAFFE ETARQLGLGC QKVEVAPGYV VTVLTWPGTN PTLSSILLNS
HTDVVPVFKE HWSHDPFEAF KDSEGYIYAR GAQDMKCVSI QYLEAVRRLK VEGHRFPRTI
HMTFVPDEEV GGHQGMELFV QRPEFHALRA GFALDEGIAN PTDAFTVFYS ERSPWWVWVT
STGRPGHASR FMEDTAAEKL HKVVNSILAF REKEWQRLQS NPHLKEGSVT SVNLTKLEGG
VAYNVIPATM SASFDFRVAP DVDFKAFEEQ LQSWCQAAGE GVTLEFAQKW MHPQVTPTDD
SNPWWAAFSR VCKDMNLTLE PEIMPAATDN RYIRAVGVPA LGFSPMNRTP VLLHDHDERL
HEAVFLRGVD IYTRLLPALA SVPALPSDS*
speed 0.66 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: 0.0705178662915554 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM072835)
  • known disease mutation: rs18113 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:52021009C>TN/A show variant in all transcripts   IGV
HGNC symbol ACY1
Ensembl transcript ID ENST00000494103
Genbank transcript ID NM_001198896
UniProt peptide Q03154
alteration type single base exchange
alteration region CDS
DNA changes c.373C>T
cDNA.538C>T
g.11944C>T
AA changes R125W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 125
frameshift no
known variant Reference ID: rs121912700
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs18113 (pathogenic for Aminoacylase 1 deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)

known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0260.688
1.7470.679
(flanking)0.8880.476
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 increased11935wt: 0.6770 / mu: 0.7186 (marginal change - not scored)wt: TGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGC
mu: TGCCTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGC		 tccc|CAGG
Acc marginally decreased11938wt: 0.9542 / mu: 0.9480 (marginal change - not scored)wt: CTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACT
mu: CTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGCACT		 ccag|GGGT
Donor marginally increased11937wt: 0.8749 / mu: 0.9227 (marginal change - not scored)wt: TCCCCAGGGGTGCGG
mu: TCCCCAGGGGTGTGG		 CCCA|gggg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      125VFYSERSPWWVRVTSTGRPGHASR
mutated  not conserved    125PWWVWVTSTGRPGHAS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000003646  60VFYSERSPWWVRVTSTGRPGHGS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000023262  197VFYSERSPWWVQVTSTGKPGHAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000014223  208VFYGERNPWWITIHCPGSPGHGS
Drerio  not conserved  ENSDARG00000038475  209VFYGERNPWWITVRCPGSPGHGS
Dmelanogaster  all identical  FBgn0039049  197LYYAERTLWHLRFKISGTAGHGS
Celegans  all conserved  C06A6.4  192IFYAERIPWWVKVTLPGHPGHGS
Xtropicalis  not conserved  ENSXETG00000000089  209VFYGEKCPWWITVHCGGDPGHGS
protein features
start (aa)end (aa)featuredetails 
115130HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1011 / 1011
position (AA) of stopcodon in wt / mu AA sequence 337 / 337
position of stopcodon in wt / mu cDNA 1176 / 1176
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 166 / 166
chromosome 3
strand 1
last intron/exon boundary 1012
theoretical NMD boundary in CDS 796
length of CDS 1011
coding sequence (CDS) position 373
cDNA position
(for ins/del: last normal base / first normal base)		 538
gDNA position
(for ins/del: last normal base / first normal base)		 11944
chromosomal position
(for ins/del: last normal base / first normal base)		 52021009
original gDNA sequence snippet CCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGG
altered gDNA sequence snippet CCTACACCTCCCCAGGGGTGTGGGTTACCAGCACTGGGAGG
original cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGCGGGTTACCAGCACTGGGAGG
altered cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGTGGGTTACCAGCACTGGGAGG
wildtype AA sequence MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV
TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK DSEGIANPTD AFTVFYSERS
PWWVRVTSTG RPGHASRFME DTAAEKLHKV VNSILAFREK EWQRLQSNPH LKEGSVTSVN
LTKLEGGVAY NVIPATMSAS FDFRVAPDVD FKAFEEQLQS WCQAAGEGVT LEFAQKWMHP
QVTPTDDSNP WWAAFSRVCK DMNLTLEPEI MPAATDNRYI RAVGVPALGF SPMNRTPVLL
HDHDERLHEA VFLRGVDIYT RLLPALASVP ALPSDS*
mutated AA sequence MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ KVEVAPGYVV
TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK DSEGIANPTD AFTVFYSERS
PWWVWVTSTG RPGHASRFME DTAAEKLHKV VNSILAFREK EWQRLQSNPH LKEGSVTSVN
LTKLEGGVAY NVIPATMSAS FDFRVAPDVD FKAFEEQLQS WCQAAGEGVT LEFAQKWMHP
QVTPTDDSNP WWAAFSRVCK DMNLTLEPEI MPAATDNRYI RAVGVPALGF SPMNRTPVLL
HDHDERLHEA VFLRGVDIYT RLLPALASVP ALPSDS*
speed 0.66 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: 0.0705178662915555 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM072835)
  • known disease mutation: rs18113 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:52021009C>TN/A show variant in all transcripts   IGV
HGNC symbol ACY1
Ensembl transcript ID ENST00000476351
Genbank transcript ID NM_001198898
UniProt peptide Q03154
alteration type single base exchange
alteration region CDS
DNA changes c.484C>T
cDNA.649C>T
g.11944C>T
AA changes R162W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 162
frameshift no
known variant Reference ID: rs121912700
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs18113 (pathogenic for Aminoacylase 1 deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)

known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
known disease mutation at this position, please check HGMD for details (HGMD ID CM072835)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0260.688
1.7470.679
(flanking)0.8880.476
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 increased11935wt: 0.6770 / mu: 0.7186 (marginal change - not scored)wt: TGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGC
mu: TGCCTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGC		 tccc|CAGG
Acc marginally decreased11938wt: 0.9542 / mu: 0.9480 (marginal change - not scored)wt: CTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACT
mu: CTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGCACT		 ccag|GGGT
Donor marginally increased11937wt: 0.8749 / mu: 0.9227 (marginal change - not scored)wt: TCCCCAGGGGTGCGG
mu: TCCCCAGGGGTGTGG		 CCCA|gggg
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      162VFYSERSPWWVRVTSTGRPGHASR
mutated  not conserved    162VFYSERSPWWVWVTSTGRPGHAS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000003646  60VFYSERSPWWVRVTSTGRPGHGS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000023262  197VFYSERSPWWVQVTSTGKPGHAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000014223  208FYGERNPWWITIHCPGSPGHGS
Drerio  not conserved  ENSDARG00000038475  209VFYGERNPWWITVRCPGSPGHGS
Dmelanogaster  all identical  FBgn0039049  197YYAERTLWHLRFKISGTAGHGS
Celegans  all conserved  C06A6.4  192YAERIPWWVKVTLPGHPGHGS
Xtropicalis  not conserved  ENSXETG00000000089  209VFYGEKCPWWITVHCGGDPGHGS
protein features
start (aa)end (aa)featuredetails 
162165HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1122 / 1122
position (AA) of stopcodon in wt / mu AA sequence 374 / 374
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 166 / 166
chromosome 3
strand 1
last intron/exon boundary 1123
theoretical NMD boundary in CDS 907
length of CDS 1122
coding sequence (CDS) position 484
cDNA position
(for ins/del: last normal base / first normal base)		 649
gDNA position
(for ins/del: last normal base / first normal base)		 11944
chromosomal position
(for ins/del: last normal base / first normal base)		 52021009
original gDNA sequence snippet CCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGG
altered gDNA sequence snippet CCTACACCTCCCCAGGGGTGTGGGTTACCAGCACTGGGAGG
original cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGCGGGTTACCAGCACTGGGAGG
altered cDNA sequence snippet AGCGGAGTCCCTGGTGGGTGTGGGTTACCAGCACTGGGAGG
wildtype AA sequence MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGTNPTLSSI LLNSHTDVVP VFKEHWSHDP
FEAFKDSEGY IYARGAQDMK CVSIQYLEAV RRLKVEGHRF PRTIHMTFVP DEEVGGHQGM
ELFVQRPEFH ALRAGFALDE GIANPTDAFT VFYSERSPWW VRVTSTGRPG HASRFMEDTA
AEKLHKVVNS ILAFREKEWQ RLQSNPHLKE GSVTSVNLTK LEGGVAYNVI PATMSASFDF
RVAPDVDFKA FEEQLQSWCQ AAGEGVTLEF AQKWMHPQVT PTDDSNPWWA AFSRVCKDMN
LTLEPEIMPA ATDNRYIRAV GVPALGFSPM NRTPVLLHDH DERLHEAVFL RGVDIYTRLL
PALASVPALP SDS*
mutated AA sequence MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGTNPTLSSI LLNSHTDVVP VFKEHWSHDP
FEAFKDSEGY IYARGAQDMK CVSIQYLEAV RRLKVEGHRF PRTIHMTFVP DEEVGGHQGM
ELFVQRPEFH ALRAGFALDE GIANPTDAFT VFYSERSPWW VWVTSTGRPG HASRFMEDTA
AEKLHKVVNS ILAFREKEWQ RLQSNPHLKE GSVTSVNLTK LEGGVAYNVI PATMSASFDF
RVAPDVDFKA FEEQLQSWCQ AAGEGVTLEF AQKWMHPQVT PTDDSNPWWA AFSRVCKDMN
LTLEPEIMPA ATDNRYIRAV GVPALGFSPM NRTPVLLHDH DERLHEAVFL RGVDIYTRLL
PALASVPALP SDS*
speed 0.86 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