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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000375326
Querying Taster for transcript #2: ENST00000415431
MT speed 2.63 s - this script 9.105667 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FBP1disease_causing_automatic0.999999999970925simple_aae0P284Rsingle base exchangers121918192show file
FBP1disease_causing_automatic0.999999999970925simple_aae0P284Rsingle base exchangers121918192show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999970925 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM024604)
  • known disease mutation: rs872 (pathogenic)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:97365829G>CN/A show variant in all transcripts   IGV
HGNC symbol FBP1
Ensembl transcript ID ENST00000375326
Genbank transcript ID NM_000507
UniProt peptide P09467
alteration type single base exchange
alteration region CDS
DNA changes c.851C>G
cDNA.1048C>G
g.36703C>G
AA changes P284R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS
284
frameshift no
known variant Reference ID: rs121918192
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs872 (pathogenic for Fructose-biphosphatase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM024604)

known disease mutation at this position, please check HGMD for details (HGMD ID CM024604)
known disease mutation at this position, please check HGMD for details (HGMD ID CM024604)
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7390.677
6.0781
(flanking)6.0781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      284NGKLRLLYECNPMAYVMEKAGGMA
mutated  not conserved    284NGKLRLLYECNRMAYVMEKAGGM
Ptroglodytes  all identical  ENSPTRG00000021138  284NGKLRLLYECNPMAYVMEKAGGM
Mmulatta  all identical  ENSMMUG00000022536  284SGKLRLLYECNPMAYVMEKAGGM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000069805  284SGKLRLLYECNPIAYVMEKAGGL
Ggallus  all identical  ENSGALG00000012613  295KGKLRLLYECNPMAFVIEKAGGI
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0032820  294SGKLRLLYECVPMAYLMIQAGGL
Celegans  all identical  K07A3.1  288NGKLRLLYECNPMAYIIEQAGGL
Xtropicalis  all identical  ENSXETG00000033240  226KGKLRLLYECNPMAYIMEKAGGM
protein features
start (aa)end (aa)featuredetails 
282291HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1017 / 1017
position (AA) of stopcodon in wt / mu AA sequence 339 / 339
position of stopcodon in wt / mu cDNA 1214 / 1214
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 198 / 198
chromosome 9
strand -1
last intron/exon boundary 1023
theoretical NMD boundary in CDS 775
length of CDS 1017
coding sequence (CDS) position 851
cDNA position
(for ins/del: last normal base / first normal base)
1048
gDNA position
(for ins/del: last normal base / first normal base)
36703
chromosomal position
(for ins/del: last normal base / first normal base)
97365829
original gDNA sequence snippet ACTGCTGTACGAATGCAACCCCATGGCCTACGTCATGGAGA
altered gDNA sequence snippet ACTGCTGTACGAATGCAACCGCATGGCCTACGTCATGGAGA
original cDNA sequence snippet ACTGCTGTACGAATGCAACCCCATGGCCTACGTCATGGAGA
altered cDNA sequence snippet ACTGCTGTACGAATGCAACCGCATGGCCTACGTCATGGAGA
wildtype AA sequence MADQAPFDTD VNTLTRFVME EGRKARGTGE LTQLLNSLCT AVKAISSAVR KAGIAHLYGI
AGSTNVTGDQ VKKLDVLSND LVMNMLKSSF ATCVLVSEED KHAIIVEPEK RGKYVVCFDP
LDGSSNIDCL VSVGTIFGIY RKKSTDEPSE KDALQPGRNL VAAGYALYGS ATMLVLAMDC
GVNCFMLDPA IGEFILVDKD VKIKKKGKIY SLNEGYARDF DPAVTEYIQR KKFPPDNSAP
YGARYVGSMV ADVHRTLVYG GIFLYPANKK SPNGKLRLLY ECNPMAYVME KAGGMATTGK
EAVLDVIPTD IHQRAPVILG SPDDVLEFLK VYEKHSAQ*
mutated AA sequence MADQAPFDTD VNTLTRFVME EGRKARGTGE LTQLLNSLCT AVKAISSAVR KAGIAHLYGI
AGSTNVTGDQ VKKLDVLSND LVMNMLKSSF ATCVLVSEED KHAIIVEPEK RGKYVVCFDP
LDGSSNIDCL VSVGTIFGIY RKKSTDEPSE KDALQPGRNL VAAGYALYGS ATMLVLAMDC
GVNCFMLDPA IGEFILVDKD VKIKKKGKIY SLNEGYARDF DPAVTEYIQR KKFPPDNSAP
YGARYVGSMV ADVHRTLVYG GIFLYPANKK SPNGKLRLLY ECNRMAYVME KAGGMATTGK
EAVLDVIPTD IHQRAPVILG SPDDVLEFLK VYEKHSAQ*
speed 1.03 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: 0.999999999970925 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM024604)
  • known disease mutation: rs872 (pathogenic)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:97365829G>CN/A show variant in all transcripts   IGV
HGNC symbol FBP1
Ensembl transcript ID ENST00000415431
Genbank transcript ID NM_001127628
UniProt peptide P09467
alteration type single base exchange
alteration region CDS
DNA changes c.851C>G
cDNA.1081C>G
g.36703C>G
AA changes P284R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS
284
frameshift no
known variant Reference ID: rs121918192
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs872 (pathogenic for Fructose-biphosphatase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM024604)

known disease mutation at this position, please check HGMD for details (HGMD ID CM024604)
known disease mutation at this position, please check HGMD for details (HGMD ID CM024604)
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7390.677
6.0781
(flanking)6.0781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      284NGKLRLLYECNPMAYVMEKAGGMA
mutated  not conserved    284NGKLRLLYECNRMAYVMEKAGGM
Ptroglodytes  all identical  ENSPTRG00000021138  284NGKLRLLYECNPMAYVMEKAGGM
Mmulatta  all identical  ENSMMUG00000022536  284SGKLRLLYECNPMAYVMEKAGGM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000069805  284SGKLRLLYECNPIAYVMEKAGGL
Ggallus  all identical  ENSGALG00000012613  295KGKLRLLYECNPMAFVIEKAGGI
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0032820  294SGKLRLLYECVPMAYLMIQAGGL
Celegans  all identical  K07A3.1  288NGKLRLLYECNPMAYIIEQAGGL
Xtropicalis  all identical  ENSXETG00000033240  226KGKLRLLYECNPMAYIMEKAGGM
protein features
start (aa)end (aa)featuredetails 
282291HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1017 / 1017
position (AA) of stopcodon in wt / mu AA sequence 339 / 339
position of stopcodon in wt / mu cDNA 1247 / 1247
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 231 / 231
chromosome 9
strand -1
last intron/exon boundary 1056
theoretical NMD boundary in CDS 775
length of CDS 1017
coding sequence (CDS) position 851
cDNA position
(for ins/del: last normal base / first normal base)
1081
gDNA position
(for ins/del: last normal base / first normal base)
36703
chromosomal position
(for ins/del: last normal base / first normal base)
97365829
original gDNA sequence snippet ACTGCTGTACGAATGCAACCCCATGGCCTACGTCATGGAGA
altered gDNA sequence snippet ACTGCTGTACGAATGCAACCGCATGGCCTACGTCATGGAGA
original cDNA sequence snippet ACTGCTGTACGAATGCAACCCCATGGCCTACGTCATGGAGA
altered cDNA sequence snippet ACTGCTGTACGAATGCAACCGCATGGCCTACGTCATGGAGA
wildtype AA sequence MADQAPFDTD VNTLTRFVME EGRKARGTGE LTQLLNSLCT AVKAISSAVR KAGIAHLYGI
AGSTNVTGDQ VKKLDVLSND LVMNMLKSSF ATCVLVSEED KHAIIVEPEK RGKYVVCFDP
LDGSSNIDCL VSVGTIFGIY RKKSTDEPSE KDALQPGRNL VAAGYALYGS ATMLVLAMDC
GVNCFMLDPA IGEFILVDKD VKIKKKGKIY SLNEGYARDF DPAVTEYIQR KKFPPDNSAP
YGARYVGSMV ADVHRTLVYG GIFLYPANKK SPNGKLRLLY ECNPMAYVME KAGGMATTGK
EAVLDVIPTD IHQRAPVILG SPDDVLEFLK VYEKHSAQ*
mutated AA sequence MADQAPFDTD VNTLTRFVME EGRKARGTGE LTQLLNSLCT AVKAISSAVR KAGIAHLYGI
AGSTNVTGDQ VKKLDVLSND LVMNMLKSSF ATCVLVSEED KHAIIVEPEK RGKYVVCFDP
LDGSSNIDCL VSVGTIFGIY RKKSTDEPSE KDALQPGRNL VAAGYALYGS ATMLVLAMDC
GVNCFMLDPA IGEFILVDKD VKIKKKGKIY SLNEGYARDF DPAVTEYIQR KKFPPDNSAP
YGARYVGSMV ADVHRTLVYG GIFLYPANKK SPNGKLRLLY ECNRMAYVME KAGGMATTGK
EAVLDVIPTD IHQRAPVILG SPDDVLEFLK VYEKHSAQ*
speed 1.60 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