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: ENST00000265838
Querying Taster for transcript #2: ENST00000299355
MT speed 0 s - this script 3.419703 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACAT1disease_causing0.999999996296326simple_aaeaffectedQ145Esingle base exchangers120074148show file
ACAT1disease_causing0.999999998240263simple_aaeaffectedQ145Esingle base exchangers120074148show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999996296326      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs2846 (probable pathogenic)
  • known disease mutation at this position (HGMD CM014309)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:108005967C>GN/A show variant in all transcripts   IGV
HGNC symbol ACAT1
Ensembl transcript ID ENST00000299355
Genbank transcript ID N/A
UniProt peptide P24752
alteration type single base exchange
alteration region CDS
DNA changes c.433C>G
cDNA.473C>G
g.13725C>G
AA changes Q145E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 145
frameshift no
known variant Reference ID: rs120074148
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known as potential disease variant: rs2846 (probable pathogenic for Deficiency of acetyl-CoA acetyltransferase) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM014309)

known disease mutation at this position, please check HGMD for details (HGMD ID CM014309)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014309)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2050.998
5.8391
(flanking)4.8291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost13726sequence motif lost- wt: TCAG|gtaa
 mu: TGAG.gtaa
Acc marginally increased13720wt: 0.5590 / mu: 0.5614 (marginal change - not scored)wt: CTCTCAAAGTCTTATGTGTGGACATCAGGTAAGAAACACCG
mu: CTCTCAAAGTCTTATGTGTGGACATGAGGTAAGAAACACCG		 gtgg|ACAT
Acc marginally increased13716wt: 0.7869 / mu: 0.8005 (marginal change - not scored)wt: TGGCCTCTCAAAGTCTTATGTGTGGACATCAGGTAAGAAAC
mu: TGGCCTCTCAAAGTCTTATGTGTGGACATGAGGTAAGAAAC		 atgt|GTGG
Donor marginally decreased13726wt: 0.9988 / mu: 0.9987 (marginal change - not scored)wt: ACATCAGGTAAGAAA
mu: ACATGAGGTAAGAAA		 ATCA|ggta
Donor gained137190.54mu: TGTGTGGACATGAGG TGTG|gaca
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      145MMASQSLMCGHQIKQETGSLAKIC
mutated  all conserved    145MMASQSLMCGHEIKQETGSLAKI
Ptroglodytes  all identical  ENSPTRG00000004247  145MMASQSLMCGHQDVMVAGGM
Mmulatta  all identical  ENSMMUG00000004161  145MMASQSLMCGHQDVMVAGGM
Fcatus  all identical  ENSFCAG00000012428  145MLASQSLMCGHQ
Mmusculus  all identical  ENSMUSG00000032047  142MMASQSLMCGHQDVMVAGGM
Ggallus  all identical  ENSGALG00000017163  127SQDVMVAGGM
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000045888  138MLASQSLMCGHQDVMVAGGM
Dmelanogaster  no alignment  FBgn0029969  n/a
Celegans  all identical  T02G5.8  127ILAAQQIQTGHQ
Xtropicalis  all identical  ENSXETG00000014477  138SLMCGHQQVMVAGGM
protein features
start (aa)end (aa)featuredetails 
146155STRANDmight get lost (downstream of altered splice site)
156158HELIXmight get lost (downstream of altered splice site)
161163STRANDmight get lost (downstream of altered splice site)
165167STRANDmight get lost (downstream of altered splice site)
173177STRANDmight get lost (downstream of altered splice site)
174174MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
178182HELIXmight get lost (downstream of altered splice site)
181181MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
187190TURNmight get lost (downstream of altered splice site)
190190MOD_RESN6-acetyllysine (By similarity).might get lost (downstream of altered splice site)
193204HELIXmight get lost (downstream of altered splice site)
208227HELIXmight get lost (downstream of altered splice site)
219219METALPotassium.might get lost (downstream of altered splice site)
219219BINDINGCoenzyme A.might get lost (downstream of altered splice site)
228234TURNmight get lost (downstream of altered splice site)
230230MOD_RESN6-acetyllysine (By similarity).might get lost (downstream of altered splice site)
238240STRANDmight get lost (downstream of altered splice site)
248250STRANDmight get lost (downstream of altered splice site)
251251MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
255257HELIXmight get lost (downstream of altered splice site)
258260REGIONCoenzyme A binding.might get lost (downstream of altered splice site)
261263TURNmight get lost (downstream of altered splice site)
263263MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
263263BINDINGCoenzyme A.might get lost (downstream of altered splice site)
264266HELIXmight get lost (downstream of altered splice site)
273275STRANDmight get lost (downstream of altered splice site)
280280METALPotassium; via carbonyl oxygen.might get lost (downstream of altered splice site)
280282TURNmight get lost (downstream of altered splice site)
281281METALPotassium; via carbonyl oxygen.might get lost (downstream of altered splice site)
283283METALPotassium; via carbonyl oxygen.might get lost (downstream of altered splice site)
284284BINDINGCoenzyme A.might get lost (downstream of altered splice site)
287297STRANDmight get lost (downstream of altered splice site)
298303HELIXmight get lost (downstream of altered splice site)
310319STRANDmight get lost (downstream of altered splice site)
322327HELIXmight get lost (downstream of altered splice site)
328340HELIXmight get lost (downstream of altered splice site)
338338MOD_RESN6-acetyllysine (By similarity).might get lost (downstream of altered splice site)
340340CONFLICTV -> M (in Ref. 2; BAA01387).might get lost (downstream of altered splice site)
344346HELIXmight get lost (downstream of altered splice site)
346346CONFLICTD -> N (in Ref. 2; BAA01387).might get lost (downstream of altered splice site)
347352STRANDmight get lost (downstream of altered splice site)
357367HELIXmight get lost (downstream of altered splice site)
371373HELIXmight get lost (downstream of altered splice site)
380380CONFLICTA -> S (in Ref. 2; BAA01387).might get lost (downstream of altered splice site)
380383HELIXmight get lost (downstream of altered splice site)
381381METALPotassium; via carbonyl oxygen.might get lost (downstream of altered splice site)
385385ACT_SITEProton acceptor (Probable).might get lost (downstream of altered splice site)
387389TURNmight get lost (downstream of altered splice site)
390401HELIXmight get lost (downstream of altered splice site)
407414STRANDmight get lost (downstream of altered splice site)
412412CONFLICTI -> F (in Ref. 2; BAA01387).might get lost (downstream of altered splice site)
413413ACT_SITEProton acceptor (Probable).might get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
418426STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 489 / 489
position (AA) of stopcodon in wt / mu AA sequence 163 / 163
position of stopcodon in wt / mu cDNA 529 / 529
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 41 / 41
chromosome 11
strand 1
last intron/exon boundary 476
theoretical NMD boundary in CDS 385
length of CDS 489
coding sequence (CDS) position 433
cDNA position
(for ins/del: last normal base / first normal base)		 473
gDNA position
(for ins/del: last normal base / first normal base)		 13725
chromosomal position
(for ins/del: last normal base / first normal base)		 108005967
original gDNA sequence snippet AAAGTCTTATGTGTGGACATCAGGTAAGAAACACCGTCCTT
altered gDNA sequence snippet AAAGTCTTATGTGTGGACATGAGGTAAGAAACACCGTCCTT
original cDNA sequence snippet AAAGTCTTATGTGTGGACATCAGATCAAGCAAGAGACAGGC
altered cDNA sequence snippet AAAGTCTTATGTGTGGACATGAGATCAAGCAAGAGACAGGC
wildtype AA sequence MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS
LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT
TINKVCASGM KAIMMASQSL MCGHQIKQET GSLAKICCHV RR*
mutated AA sequence MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS
LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT
TINKVCASGM KAIMMASQSL MCGHEIKQET GSLAKICCHV RR*
speed 1.31 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: 0.999999998240263      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs2846 (probable pathogenic)
  • known disease mutation at this position (HGMD CM014309)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:108005967C>GN/A show variant in all transcripts   IGV
HGNC symbol ACAT1
Ensembl transcript ID ENST00000265838
Genbank transcript ID NM_000019
UniProt peptide P24752
alteration type single base exchange
alteration region CDS
DNA changes c.433C>G
cDNA.524C>G
g.13725C>G
AA changes Q145E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 145
frameshift no
known variant Reference ID: rs120074148
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known as potential disease variant: rs2846 (probable pathogenic for Deficiency of acetyl-CoA acetyltransferase) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM014309)

known disease mutation at this position, please check HGMD for details (HGMD ID CM014309)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014309)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2050.998
5.8391
(flanking)4.8291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost13726sequence motif lost- wt: TCAG|gtaa
 mu: TGAG.gtaa
Acc marginally increased13720wt: 0.5590 / mu: 0.5614 (marginal change - not scored)wt: CTCTCAAAGTCTTATGTGTGGACATCAGGTAAGAAACACCG
mu: CTCTCAAAGTCTTATGTGTGGACATGAGGTAAGAAACACCG		 gtgg|ACAT
Acc marginally increased13716wt: 0.7869 / mu: 0.8005 (marginal change - not scored)wt: TGGCCTCTCAAAGTCTTATGTGTGGACATCAGGTAAGAAAC
mu: TGGCCTCTCAAAGTCTTATGTGTGGACATGAGGTAAGAAAC		 atgt|GTGG
Donor marginally decreased13726wt: 0.9988 / mu: 0.9987 (marginal change - not scored)wt: ACATCAGGTAAGAAA
mu: ACATGAGGTAAGAAA		 ATCA|ggta
Donor gained137190.54mu: TGTGTGGACATGAGG TGTG|gaca
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      145MMASQSLMCGHQDVMVAGGMESMS
mutated  all conserved    145MMASQSLMCGHEDVMVAGGMESM
Ptroglodytes  all identical  ENSPTRG00000004247  145MMASQSLMCGHQDVMVAGGMESM
Mmulatta  all identical  ENSMMUG00000004161  145MMASQSLMCGHQDVMVAGGMESM
Fcatus  all identical  ENSFCAG00000012428  145MLASQSLMCGHQDVVVAGGMESM
Mmusculus  all identical  ENSMUSG00000032047  142MMASQSLMCGHQDVMVAGGMESM
Ggallus  all identical  ENSGALG00000017163  127SQDVMVAGGMESM
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000045888  138MLASQSLMCGHQDVMVAGGMESM
Dmelanogaster  not conserved  FBgn0029969  128SLMLGYADVVVAGGMESM
Celegans  all identical  T02G5.8  127ILAAQQIQTGHQDFAIGGGMESM
Xtropicalis  all identical  ENSXETG00000014477  138SLMCGHQQVMVAGGMESM
protein features
start (aa)end (aa)featuredetails 
146155STRANDmight get lost (downstream of altered splice site)
156158HELIXmight get lost (downstream of altered splice site)
161163STRANDmight get lost (downstream of altered splice site)
165167STRANDmight get lost (downstream of altered splice site)
173177STRANDmight get lost (downstream of altered splice site)
174174MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
178182HELIXmight get lost (downstream of altered splice site)
181181MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
187190TURNmight get lost (downstream of altered splice site)
190190MOD_RESN6-acetyllysine (By similarity).might get lost (downstream of altered splice site)
193204HELIXmight get lost (downstream of altered splice site)
208227HELIXmight get lost (downstream of altered splice site)
219219METALPotassium.might get lost (downstream of altered splice site)
219219BINDINGCoenzyme A.might get lost (downstream of altered splice site)
228234TURNmight get lost (downstream of altered splice site)
230230MOD_RESN6-acetyllysine (By similarity).might get lost (downstream of altered splice site)
238240STRANDmight get lost (downstream of altered splice site)
248250STRANDmight get lost (downstream of altered splice site)
251251MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
255257HELIXmight get lost (downstream of altered splice site)
258260REGIONCoenzyme A binding.might get lost (downstream of altered splice site)
261263TURNmight get lost (downstream of altered splice site)
263263MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
263263BINDINGCoenzyme A.might get lost (downstream of altered splice site)
264266HELIXmight get lost (downstream of altered splice site)
273275STRANDmight get lost (downstream of altered splice site)
280280METALPotassium; via carbonyl oxygen.might get lost (downstream of altered splice site)
280282TURNmight get lost (downstream of altered splice site)
281281METALPotassium; via carbonyl oxygen.might get lost (downstream of altered splice site)
283283METALPotassium; via carbonyl oxygen.might get lost (downstream of altered splice site)
284284BINDINGCoenzyme A.might get lost (downstream of altered splice site)
287297STRANDmight get lost (downstream of altered splice site)
298303HELIXmight get lost (downstream of altered splice site)
310319STRANDmight get lost (downstream of altered splice site)
322327HELIXmight get lost (downstream of altered splice site)
328340HELIXmight get lost (downstream of altered splice site)
338338MOD_RESN6-acetyllysine (By similarity).might get lost (downstream of altered splice site)
340340CONFLICTV -> M (in Ref. 2; BAA01387).might get lost (downstream of altered splice site)
344346HELIXmight get lost (downstream of altered splice site)
346346CONFLICTD -> N (in Ref. 2; BAA01387).might get lost (downstream of altered splice site)
347352STRANDmight get lost (downstream of altered splice site)
357367HELIXmight get lost (downstream of altered splice site)
371373HELIXmight get lost (downstream of altered splice site)
380380CONFLICTA -> S (in Ref. 2; BAA01387).might get lost (downstream of altered splice site)
380383HELIXmight get lost (downstream of altered splice site)
381381METALPotassium; via carbonyl oxygen.might get lost (downstream of altered splice site)
385385ACT_SITEProton acceptor (Probable).might get lost (downstream of altered splice site)
387389TURNmight get lost (downstream of altered splice site)
390401HELIXmight get lost (downstream of altered splice site)
407414STRANDmight get lost (downstream of altered splice site)
412412CONFLICTI -> F (in Ref. 2; BAA01387).might get lost (downstream of altered splice site)
413413ACT_SITEProton acceptor (Probable).might get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
418426STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1284 / 1284
position (AA) of stopcodon in wt / mu AA sequence 428 / 428
position of stopcodon in wt / mu cDNA 1375 / 1375
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 92 / 92
chromosome 11
strand 1
last intron/exon boundary 1255
theoretical NMD boundary in CDS 1113
length of CDS 1284
coding sequence (CDS) position 433
cDNA position
(for ins/del: last normal base / first normal base)		 524
gDNA position
(for ins/del: last normal base / first normal base)		 13725
chromosomal position
(for ins/del: last normal base / first normal base)		 108005967
original gDNA sequence snippet AAAGTCTTATGTGTGGACATCAGGTAAGAAACACCGTCCTT
altered gDNA sequence snippet AAAGTCTTATGTGTGGACATGAGGTAAGAAACACCGTCCTT
original cDNA sequence snippet AAAGTCTTATGTGTGGACATCAGGATGTGATGGTGGCAGGT
altered cDNA sequence snippet AAAGTCTTATGTGTGGACATGAGGATGTGATGGTGGCAGGT
wildtype AA sequence MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS
LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT
TINKVCASGM KAIMMASQSL MCGHQDVMVA GGMESMSNVP YVMNRGSTPY GGVKLEDLIV
KDGLTDVYNK IHMGSCAENT AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV
TVKGQPDVVV KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA
AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAASMVLKDV GLKKEDIAMW EVNEAFSLVV
LANIKMLEID PQKVNINGGA VSLGHPIGMS GARIVGHLTH ALKQGEYGLA SICNGGGGAS
AMLIQKL*
mutated AA sequence MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS
LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT
TINKVCASGM KAIMMASQSL MCGHEDVMVA GGMESMSNVP YVMNRGSTPY GGVKLEDLIV
KDGLTDVYNK IHMGSCAENT AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV
TVKGQPDVVV KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA
AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAASMVLKDV GLKKEDIAMW EVNEAFSLVV
LANIKMLEID PQKVNINGGA VSLGHPIGMS GARIVGHLTH ALKQGEYGLA SICNGGGGAS
AMLIQKL*
speed 1.37 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

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