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: ENST00000394009
Querying Taster for transcript #2: ENST00000553773
Querying Taster for transcript #3: ENST00000553458
Querying Taster for transcript #4: ENST00000350259
Querying Taster for transcript #5: ENST00000555126
MT speed 7.81 s - this script 8.492393 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ALDH6A1disease_causing_automatic0.999999999999958simple_aaeaffected0G446Rsingle base exchangers72552258show file
ALDH6A1disease_causing_automatic0.999999999999958simple_aaeaffected0G433Rsingle base exchangers72552258show file
ALDH6A1disease_causing_automatic0.999999999999958simple_aaeaffected0G163Rsingle base exchangers72552258show file
BBOF1disease_causing_automatic1without_aaeaffected0single base exchangers72552258show file
BBOF1disease_causing_automatic1without_aaeaffected0single base exchangers72552258show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999958 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM002057)
  • known disease mutation: rs6617 (pathogenic)
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:74531952C>TN/A show variant in all transcripts   IGV
HGNC symbol ALDH6A1
Ensembl transcript ID ENST00000553458
Genbank transcript ID NM_005589
UniProt peptide Q02252
alteration type single base exchange
alteration region CDS
DNA changes c.1336G>A
cDNA.1435G>A
g.19245G>A
AA changes G446R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS
446
frameshift no
known variant Reference ID: rs72552258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6617 (pathogenic for Methylmalonate semialdehyde dehydrogenase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2891
6.2891
(flanking)0.7131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased19250wt: 0.3247 / mu: 0.3554 (marginal change - not scored)wt: GGAACTGCCATCTTC
mu: AGAACTGCCATCTTC
 AACT|gcca
Donor increased19243wt: 0.49 / mu: 0.74wt: TGGAAATGGAACTGC
mu: TGGAAATAGAACTGC
 GAAA|tgga
Donor increased19237wt: 0.43 / mu: 0.63wt: CCCATATGGAAATGG
mu: CCCATATGGAAATAG
 CATA|tgga
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      446IQIVNNNPYGNGTAIFTTNGATAR
mutated  not conserved    446IQIVNNNPYGNRTAIFTTNGATA
Ptroglodytes  all identical  ENSPTRG00000006531  405IQIVNNNPYGNGTAIFTTNGATA
Mmulatta  all identical  ENSMMUG00000012684  450IQIVNNNPYGNGTAIFTTNGATA
Fcatus  all identical  ENSFCAG00000006202  447IKIVNDNPYGNGTAIFTTNGATA
Mmusculus  all identical  ENSMUSG00000021238  446IKIVNDNPYGNGTAIFTTNGATA
Ggallus  all identical  ENSGALG00000010211  449IEVVNNNPYGNGTAIFTTNGATA
Trubripes  all identical  ENSTRUG00000018226  436ICMVNRNPYGNGTAIFTT
Drerio  all identical  ENSDARG00000053485  436IKIVNKNPYGNGTAIFTTNGAAA
Dmelanogaster  all identical  FBgn0023537  432IGIVNANPYGNGTAVFT
Celegans  all identical  F13D12.4  436IEIINNNPYGNGTAIFTSNGATA
Xtropicalis  all identical  ENSXETG00000013304  434LKIVNSNPYGNGTAIFT
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1608 / 1608
position (AA) of stopcodon in wt / mu AA sequence 536 / 536
position of stopcodon in wt / mu cDNA 1707 / 1707
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 100 / 100
chromosome 14
strand -1
last intron/exon boundary 1603
theoretical NMD boundary in CDS 1453
length of CDS 1608
coding sequence (CDS) position 1336
cDNA position
(for ins/del: last normal base / first normal base)
1435
gDNA position
(for ins/del: last normal base / first normal base)
19245
chromosomal position
(for ins/del: last normal base / first normal base)
74531952
original gDNA sequence snippet ATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACC
altered gDNA sequence snippet ATAACAACCCATATGGAAATAGAACTGCCATCTTCACCACC
original cDNA sequence snippet ATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACC
altered cDNA sequence snippet ATAACAACCCATATGGAAATAGAACTGCCATCTTCACCACC
wildtype AA sequence MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE SKSDKWIDIH
NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQVLLRYQQ LIKENLKEIA
KLITLEQGKT LADAEGDVFR GLQVVEHACS VTSLMMGETM PSITKDMDLY SYRLPLGVCA
GIAPFNFPAM IPLWMFPMAM VCGNTFLMKP SERVPGATML LAKLLQDSGA PDGTLNIIHG
QHEAVNFICD HPDIKAISFV GSNKAGEYIF ERGSRHGKRV QANMGAKNHG VVMPDANKEN
TLNQLVGAAF GAAGQRCMAL STAVLVGEAK KWLPELVEHA KNLRVNAGDQ PGADLGPLIT
PQAKERVCNL IDSGTKEGAS ILLDGRKIKV KGYENGNFVG PTIISNVKPN MTCYKEEIFG
PVLVVLETET LDEAIQIVNN NPYGNGTAIF TTNGATARKY AHLVDVGQVG VNVPIPVPLP
MFSFTGSRSS FRGDTNFYGK QGIQFYTQLK TITSQWKEED ATLSSPAVVM PTMGR*
mutated AA sequence MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE SKSDKWIDIH
NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQVLLRYQQ LIKENLKEIA
KLITLEQGKT LADAEGDVFR GLQVVEHACS VTSLMMGETM PSITKDMDLY SYRLPLGVCA
GIAPFNFPAM IPLWMFPMAM VCGNTFLMKP SERVPGATML LAKLLQDSGA PDGTLNIIHG
QHEAVNFICD HPDIKAISFV GSNKAGEYIF ERGSRHGKRV QANMGAKNHG VVMPDANKEN
TLNQLVGAAF GAAGQRCMAL STAVLVGEAK KWLPELVEHA KNLRVNAGDQ PGADLGPLIT
PQAKERVCNL IDSGTKEGAS ILLDGRKIKV KGYENGNFVG PTIISNVKPN MTCYKEEIFG
PVLVVLETET LDEAIQIVNN NPYGNRTAIF TTNGATARKY AHLVDVGQVG VNVPIPVPLP
MFSFTGSRSS FRGDTNFYGK QGIQFYTQLK TITSQWKEED ATLSSPAVVM PTMGR*
speed 1.55 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: 0.999999999999958 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM002057)
  • known disease mutation: rs6617 (pathogenic)
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:74531952C>TN/A show variant in all transcripts   IGV
HGNC symbol ALDH6A1
Ensembl transcript ID ENST00000350259
Genbank transcript ID N/A
UniProt peptide Q02252
alteration type single base exchange
alteration region CDS
DNA changes c.1297G>A
cDNA.1350G>A
g.19245G>A
AA changes G433R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS
433
frameshift no
known variant Reference ID: rs72552258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6617 (pathogenic for Methylmalonate semialdehyde dehydrogenase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2891
6.2891
(flanking)0.7131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased19250wt: 0.3247 / mu: 0.3554 (marginal change - not scored)wt: GGAACTGCCATCTTC
mu: AGAACTGCCATCTTC
 AACT|gcca
Donor increased19243wt: 0.49 / mu: 0.74wt: TGGAAATGGAACTGC
mu: TGGAAATAGAACTGC
 GAAA|tgga
Donor increased19237wt: 0.43 / mu: 0.63wt: CCCATATGGAAATGG
mu: CCCATATGGAAATAG
 CATA|tgga
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      433IQIVNNNPYGNGTAIFTTNGATAR
mutated  not conserved    433IQIVNNNPYGNRTAIFTTNGATA
Ptroglodytes  all identical  ENSPTRG00000006531  405IQIVNNNPYGNGTAIFTTNGATA
Mmulatta  all identical  ENSMMUG00000012684  450IQIVNNNPYGNGTAIFTTNGATA
Fcatus  all identical  ENSFCAG00000006202  447IKIVNDNPYGNGTAIFTTNGATA
Mmusculus  all identical  ENSMUSG00000021238  446IKIVNDNPYGNGTAIFTTNGATA
Ggallus  all identical  ENSGALG00000010211  449IEVVNNNPYGNGTAIFTTNGATA
Trubripes  all identical  ENSTRUG00000018226  436ICMVNRNPYGNGTAIFTT
Drerio  all identical  ENSDARG00000053485  436IKIVNKNPYGNGTAIFTTNGAAA
Dmelanogaster  all identical  FBgn0023537  432IGIVNANPYGNGTAVFT
Celegans  all identical  F13D12.4  436IEIINNNPYGNGTAIFTSNGATA
Xtropicalis  all identical  ENSXETG00000013304  434LKIVNSNPYGNGTAIFT
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1569 / 1569
position (AA) of stopcodon in wt / mu AA sequence 523 / 523
position of stopcodon in wt / mu cDNA 1622 / 1622
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 54 / 54
chromosome 14
strand -1
last intron/exon boundary 1518
theoretical NMD boundary in CDS 1414
length of CDS 1569
coding sequence (CDS) position 1297
cDNA position
(for ins/del: last normal base / first normal base)
1350
gDNA position
(for ins/del: last normal base / first normal base)
19245
chromosomal position
(for ins/del: last normal base / first normal base)
74531952
original gDNA sequence snippet ATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACC
altered gDNA sequence snippet ATAACAACCCATATGGAAATAGAACTGCCATCTTCACCACC
original cDNA sequence snippet ATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACC
altered cDNA sequence snippet ATAACAACCCATATGGAAATAGAACTGCCATCTTCACCACC
wildtype AA sequence MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE SKSDKWIDIH
NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQKEIAKLI TLEQGKTLAD
AEGDVFRGLQ VVEHACSVTS LMMGETMPSI TKDMDLYSYR LPLGVCAGIA PFNFPAMIPL
WMFPMAMVCG NTFLMKPSER VPGATMLLAK LLQDSGAPDG TLNIIHGQHE AVNFICDHPD
IKAISFVGSN KAGEYIFERG SRHGKRVQAN MGAKNHGVVM PDANKENTLN QLVGAAFGAA
GQRCMALSTA VLVGEAKKWL PELVEHAKNL RVNAGDQPGA DLGPLITPQA KERVCNLIDS
GTKEGASILL DGRKIKVKGY ENGNFVGPTI ISNVKPNMTC YKEEIFGPVL VVLETETLDE
AIQIVNNNPY GNGTAIFTTN GATARKYAHL VDVGQVGVNV PIPVPLPMFS FTGSRSSFRG
DTNFYGKQGI QFYTQLKTIT SQWKEEDATL SSPAVVMPTM GR*
mutated AA sequence MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE SKSDKWIDIH
NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQKEIAKLI TLEQGKTLAD
AEGDVFRGLQ VVEHACSVTS LMMGETMPSI TKDMDLYSYR LPLGVCAGIA PFNFPAMIPL
WMFPMAMVCG NTFLMKPSER VPGATMLLAK LLQDSGAPDG TLNIIHGQHE AVNFICDHPD
IKAISFVGSN KAGEYIFERG SRHGKRVQAN MGAKNHGVVM PDANKENTLN QLVGAAFGAA
GQRCMALSTA VLVGEAKKWL PELVEHAKNL RVNAGDQPGA DLGPLITPQA KERVCNLIDS
GTKEGASILL DGRKIKVKGY ENGNFVGPTI ISNVKPNMTC YKEEIFGPVL VVLETETLDE
AIQIVNNNPY GNRTAIFTTN GATARKYAHL VDVGQVGVNV PIPVPLPMFS FTGSRSSFRG
DTNFYGKQGI QFYTQLKTIT SQWKEEDATL SSPAVVMPTM GR*
speed 1.43 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: 0.999999999999958 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM002057)
  • known disease mutation: rs6617 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:74531952C>TN/A show variant in all transcripts   IGV
HGNC symbol ALDH6A1
Ensembl transcript ID ENST00000555126
Genbank transcript ID N/A
UniProt peptide Q02252
alteration type single base exchange
alteration region CDS
DNA changes c.487G>A
cDNA.883G>A
g.19245G>A
AA changes G163R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS
163
frameshift no
known variant Reference ID: rs72552258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6617 (pathogenic for Methylmalonate semialdehyde dehydrogenase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2891
6.2891
(flanking)0.7131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased19250wt: 0.3247 / mu: 0.3554 (marginal change - not scored)wt: GGAACTGCCATCTTC
mu: AGAACTGCCATCTTC
 AACT|gcca
Donor increased19243wt: 0.49 / mu: 0.74wt: TGGAAATGGAACTGC
mu: TGGAAATAGAACTGC
 GAAA|tgga
Donor increased19237wt: 0.43 / mu: 0.63wt: CCCATATGGAAATGG
mu: CCCATATGGAAATAG
 CATA|tgga
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      163IQIVNNNPYGNGTAIFTTNGATAR
mutated  not conserved    163IQIVNNNPYGNRTAIFTTNGATA
Ptroglodytes  all identical  ENSPTRG00000006531  405IQIVNNNPYGNGTAIFTTNGATA
Mmulatta  all identical  ENSMMUG00000012684  450IQIVNNNPYGNGTAIFTTNGATA
Fcatus  all identical  ENSFCAG00000006202  447IKIVNDNPYGNGTAIFTTNGATA
Mmusculus  all identical  ENSMUSG00000021238  446IKIVNDNPYGNGTAIFTTNGATA
Ggallus  all identical  ENSGALG00000010211  449IEVVNNNPYGNGTAIFTTNGATA
Trubripes  all identical  ENSTRUG00000018226  436ICMVNRNPYGNGTAIFTTNGATA
Drerio  all identical  ENSDARG00000053485  436IKIVNKNPYGNGTAIFTTNGAAA
Dmelanogaster  all identical  FBgn0023537  432IGIVNANPYGNGTAVFTTNGAAA
Celegans  all identical  F13D12.4  436IEIINNNPYGNGTAIFTSNGATA
Xtropicalis  all identical  ENSXETG00000013304  434LKIVNSNPYGNGTAIFTTNGATA
protein features
start (aa)end (aa)featuredetails 
209213NP_BINDNAD (Potential).might get lost (downstream of altered splice site)
261266NP_BINDNAD (Potential).might get lost (downstream of altered splice site)
317317ACT_SITENucleophile (By similarity).might get lost (downstream of altered splice site)
331331MOD_RESN6-acetyllysine (By similarity).might get lost (downstream of altered splice site)
417417BINDINGNAD (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 759 / 759
position (AA) of stopcodon in wt / mu AA sequence 253 / 253
position of stopcodon in wt / mu cDNA 1155 / 1155
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 397 / 397
chromosome 14
strand -1
last intron/exon boundary 1051
theoretical NMD boundary in CDS 604
length of CDS 759
coding sequence (CDS) position 487
cDNA position
(for ins/del: last normal base / first normal base)
883
gDNA position
(for ins/del: last normal base / first normal base)
19245
chromosomal position
(for ins/del: last normal base / first normal base)
74531952
original gDNA sequence snippet ATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACC
altered gDNA sequence snippet ATAACAACCCATATGGAAATAGAACTGCCATCTTCACCACC
original cDNA sequence snippet ATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACC
altered cDNA sequence snippet ATAACAACCCATATGGAAATAGAACTGCCATCTTCACCACC
wildtype AA sequence MGAKNHGVVM PDANKENTLN QLVGAAFGAA GQRCMALSTA VLVGEAKKWL PELVEHAKNL
RVNAGDQPGA DLGPLITPQA KERVCNLIDS GTKEGASILL DGRKIKVKGY ENGNFVGPTI
ISNVKPNMTC YKEEIFGPVL VVLETETLDE AIQIVNNNPY GNGTAIFTTN GATARKYAHL
VDVGQVGVNV PIPVPLPMFS FTGSRSSFRG DTNFYGKQGI QFYTQLKTIT SQWKEEDATL
SSPAVVMPTM GR*
mutated AA sequence MGAKNHGVVM PDANKENTLN QLVGAAFGAA GQRCMALSTA VLVGEAKKWL PELVEHAKNL
RVNAGDQPGA DLGPLITPQA KERVCNLIDS GTKEGASILL DGRKIKVKGY ENGNFVGPTI
ISNVKPNMTC YKEEIFGPVL VVLETETLDE AIQIVNNNPY GNRTAIFTTN GATARKYAHL
VDVGQVGVNV PIPVPLPMFS FTGSRSSFRG DTNFYGKQGI QFYTQLKTIT SQWKEEDATL
SSPAVVMPTM GR*
speed 1.99 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 CM002057)
  • known disease mutation: rs6617 (pathogenic)
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:74531952C>TN/A show variant in all transcripts   IGV
HGNC symbol BBOF1
Ensembl transcript ID ENST00000394009
Genbank transcript ID NM_025057
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.2263C>T
g.45897C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs72552258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6617 (pathogenic for Methylmalonate semialdehyde dehydrogenase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2891
6.2891
(flanking)0.7131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 716)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased45905wt: 0.47 / mu: 0.78wt: AGATGGCAGTTCCATTTCCATATGGGTTGTTATTTACAATC
mu: AGATGGCAGTTCTATTTCCATATGGGTTGTTATTTACAATC
 ccat|ATGG
Acc increased45907wt: 0.70 / mu: 0.81wt: ATGGCAGTTCCATTTCCATATGGGTTGTTATTTACAATCTG
mu: ATGGCAGTTCTATTTCCATATGGGTTGTTATTTACAATCTG
 atat|GGGT
distance from splice site 562
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 124 / 124
chromosome 14
strand 1
last intron/exon boundary 1702
theoretical NMD boundary in CDS 1528
length of CDS 1590
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
2263
gDNA position
(for ins/del: last normal base / first normal base)
45897
chromosomal position
(for ins/del: last normal base / first normal base)
74531952
original gDNA sequence snippet GGTGGTGAAGATGGCAGTTCCATTTCCATATGGGTTGTTAT
altered gDNA sequence snippet GGTGGTGAAGATGGCAGTTCTATTTCCATATGGGTTGTTAT
original cDNA sequence snippet GGTGGTGAAGATGGCAGTTCCATTTCCATATGGGTTGTTAT
altered cDNA sequence snippet GGTGGTGAAGATGGCAGTTCTATTTCCATATGGGTTGTTAT
wildtype AA sequence MPSKGKDKKK GKSKGKDTKK LIKTDESVVD RAKANASLWE ARLEVTELSR IKYRDTSRIL
AKSNEDLKKK QCKMEKDIMS VLSYLKKQDQ EKDNMIEKLK QQLNETKEKA QEEKDKLEQK
YTRQINELEG QFHQKAKEIG MIHTELKAVR QFQKRKIQVE RELDDLKENL RNTERIHQET
LRRLESRFFE EKHRLEQEAE KKIIMLAERA HHEAIVQLND AGRNVFKEND YLQKALAYHL
KETDALQKNS QKLQESHTLL LHQKEINDLL VKEKIMQLVQ QRSQIQTLQK KVVNLETALS
YMTKEFESEV LKLQQHAMIE NQAGQVEIDK LQHLLQMKDR EMNRVKKLAK NILDERTEVE
RFFLDALHQV KQQILISRKH YKQIAQAAFN LKMRAACTGR TEYPKIRTFD GREHSTNSVN
QDLLEAEKWT HIEGNVDIGD LTWEQKEKVL RLLFAKMNGC PSRKYNQSSR PPVPDYVVSD
SGETKEFGDE SKLQDKIFIT QQIAISDSSG EVVLPTIPKE PQESDTGTF*
mutated AA sequence N/A
speed 1.62 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 CM002057)
  • known disease mutation: rs6617 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:74531952C>TN/A show variant in all transcripts   IGV
HGNC symbol BBOF1
Ensembl transcript ID ENST00000553773
Genbank transcript ID N/A
UniProt peptide Q8ND07
alteration type single base exchange
alteration region intron
DNA changes g.45897C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs72552258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6617 (pathogenic for Methylmalonate semialdehyde dehydrogenase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2891
6.2891
(flanking)0.7131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased45905wt: 0.47 / mu: 0.78wt: AGATGGCAGTTCCATTTCCATATGGGTTGTTATTTACAATC
mu: AGATGGCAGTTCTATTTCCATATGGGTTGTTATTTACAATC
 ccat|ATGG
Acc increased45907wt: 0.70 / mu: 0.81wt: ATGGCAGTTCCATTTCCATATGGGTTGTTATTTACAATCTG
mu: ATGGCAGTTCTATTTCCATATGGGTTGTTATTTACAATCTG
 atat|GGGT
distance from splice site 7991
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
271361COILEDPotential.might 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 627 / 627
chromosome 14
strand 1
last intron/exon boundary 1640
theoretical NMD boundary in CDS 963
length of CDS 798
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)
45897
chromosomal position
(for ins/del: last normal base / first normal base)
74531952
original gDNA sequence snippet GGTGGTGAAGATGGCAGTTCCATTTCCATATGGGTTGTTAT
altered gDNA sequence snippet GGTGGTGAAGATGGCAGTTCTATTTCCATATGGGTTGTTAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MQLVQQRSQI QTLQKKVVNL ETALSYMTKE FESEVLKLQQ HAMIENQAGQ VEIDKLQHLL
QMKDREMNRV KKLAKNILDE RTEVERFFLD ALHQVKQQIL ISRKHYKQIA QAAFNLKMRA
ACTGRTEYPK IRTFDGREHS TNSVNQDLLE AEKWTHIEGN VDIGDLTWEQ KEKVLRLLFA
KMNGCPSRKY NQSSRPPVPD YVVSDSGETK EFGDESKLQD KIFITQQIAI SDSSGEVVLP
TIPKEPQESD TSTQKPSDEN FSTSY*
mutated AA sequence N/A
speed 1.22 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