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 2.886206 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACAT1polymorphism_automatic3.91527033016814e-10simple_aaeaffectedA5Psingle base exchangers3741056show file
ACAT1polymorphism_automatic3.91527033016814e-10simple_aaeaffectedA5Psingle base exchangers3741056show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999608473 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:107992346G>CN/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.13G>C
cDNA.104G>C
g.104G>C
AA changes A5P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
frameshift no
known variant Reference ID: rs3741056
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC137239105282
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
Cfos, Transcription Factor, Cfos TF binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0510
0.0470.001
(flanking)0.9250.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased95wt: 0.32 / mu: 0.38wt: CTCAGCCCTCTGCGACCATGGCTGTGCTGGCGGCACTTCTG
mu: CTCAGCCCTCTGCGACCATGGCTGTGCTGCCGGCACTTCTG		 atgg|CTGT
Donor gained1050.51mu: GCTGCCGGCACTTCT TGCC|ggca
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5 MAVLAALLRSGARSRSP
mutated  not conserved    5 MAVLPALLRSGARSRSPLLRRL
Ptroglodytes  all identical  ENSPTRG00000004247  5 MAVLAALLRSGARSRSPLLRRL
Mmulatta  all identical  ENSMMUG00000004161  5 MAVLAALLRGGARSRSPLLRRL
Fcatus  all identical  ENSFCAG00000012428  5 MAVLAALLRGGARGRGPLLRRL
Mmusculus  all identical  ENSMUSG00000032047  2 MAALVALHGVVRRPLLRGL
Ggallus  no alignment  ENSGALG00000017163  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000045888  n/a
Dmelanogaster  no alignment  FBgn0029969  n/a
Celegans  no alignment  T02G5.8  n/a
Xtropicalis  no alignment  ENSXETG00000014477  n/a
protein features
start (aa)end (aa)featuredetails 
133TRANSITMitochondrion (By similarity).lost
4249STRANDmight get lost (downstream of altered splice site)
5861TURNmight get lost (downstream of altered splice site)
6479HELIXmight get lost (downstream of altered splice site)
8383MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
8385HELIXmight get lost (downstream of altered splice site)
8892STRANDmight get lost (downstream of altered splice site)
103110HELIXmight get lost (downstream of altered splice site)
119123STRANDmight get lost (downstream of altered splice site)
125127HELIXmight get lost (downstream of altered splice site)
126126ACT_SITEAcyl-thioester intermediate (Probable).might get lost (downstream of altered splice site)
128141HELIXmight get lost (downstream of altered splice site)
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)
263263BINDINGCoenzyme A.might get lost (downstream of altered splice site)
263263MOD_RESN6-acetyllysine.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 13
cDNA position
(for ins/del: last normal base / first normal base)		 104
gDNA position
(for ins/del: last normal base / first normal base)		 104
chromosomal position
(for ins/del: last normal base / first normal base)		 107992346
original gDNA sequence snippet CTGCGACCATGGCTGTGCTGGCGGCACTTCTGCGCAGCGGC
altered gDNA sequence snippet CTGCGACCATGGCTGTGCTGCCGGCACTTCTGCGCAGCGGC
original cDNA sequence snippet CTGCGACCATGGCTGTGCTGGCGGCACTTCTGCGCAGCGGC
altered cDNA sequence snippet CTGCGACCATGGCTGTGCTGCCGGCACTTCTGCGCAGCGGC
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 MAVLPALLRS 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*
speed 0.44 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

polymorphism

 Model: simple_aae, prob: 0.999999999608473 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:107992346G>CN/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.13G>C
cDNA.53G>C
g.104G>C
AA changes A5P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
frameshift no
known variant Reference ID: rs3741056
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC137239105282
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
Cfos, Transcription Factor, Cfos TF binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0510
0.0470.001
(flanking)0.9250.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased95wt: 0.32 / mu: 0.38wt: CTCAGCCCTCTGCGACCATGGCTGTGCTGGCGGCACTTCTG
mu: CTCAGCCCTCTGCGACCATGGCTGTGCTGCCGGCACTTCTG		 atgg|CTGT
Donor gained1050.51mu: GCTGCCGGCACTTCT TGCC|ggca
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5 MAVLAALLRSGARSRSP
mutated  not conserved    5 MAVLPALLRSGARSRSPLLRRL
Ptroglodytes  all identical  ENSPTRG00000004247  5 MAVLAALLRSGARSRSPLLRRL
Mmulatta  all identical  ENSMMUG00000004161  5 MAVLAALLRGGARSRSPLLRRL
Fcatus  all identical  ENSFCAG00000012428  5 MAVLAALLRGGARGRGPLLRRL
Mmusculus  all identical  ENSMUSG00000032047  2 MAALVALHGVVRRPLLRGL
Ggallus  no alignment  ENSGALG00000017163  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000045888  n/a
Dmelanogaster  no alignment  FBgn0029969  n/a
Celegans  no alignment  T02G5.8  n/a
Xtropicalis  no alignment  ENSXETG00000014477  n/a
protein features
start (aa)end (aa)featuredetails 
133TRANSITMitochondrion (By similarity).lost
4249STRANDmight get lost (downstream of altered splice site)
5861TURNmight get lost (downstream of altered splice site)
6479HELIXmight get lost (downstream of altered splice site)
8383MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
8385HELIXmight get lost (downstream of altered splice site)
8892STRANDmight get lost (downstream of altered splice site)
103110HELIXmight get lost (downstream of altered splice site)
119123STRANDmight get lost (downstream of altered splice site)
125127HELIXmight get lost (downstream of altered splice site)
126126ACT_SITEAcyl-thioester intermediate (Probable).might get lost (downstream of altered splice site)
128141HELIXmight get lost (downstream of altered splice site)
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)
263263BINDINGCoenzyme A.might get lost (downstream of altered splice site)
263263MOD_RESN6-acetyllysine.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 13
cDNA position
(for ins/del: last normal base / first normal base)		 53
gDNA position
(for ins/del: last normal base / first normal base)		 104
chromosomal position
(for ins/del: last normal base / first normal base)		 107992346
original gDNA sequence snippet CTGCGACCATGGCTGTGCTGGCGGCACTTCTGCGCAGCGGC
altered gDNA sequence snippet CTGCGACCATGGCTGTGCTGCCGGCACTTCTGCGCAGCGGC
original cDNA sequence snippet CTGCGACCATGGCTGTGCTGGCGGCACTTCTGCGCAGCGGC
altered cDNA sequence snippet CTGCGACCATGGCTGTGCTGCCGGCACTTCTGCGCAGCGGC
wildtype AA sequence MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS
LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT
TINKVCASGM KAIMMASQSL MCGHQIKQET GSLAKICCHV RR*
mutated AA sequence MAVLPALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS
LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT
TINKVCASGM KAIMMASQSL MCGHQIKQET GSLAKICCHV RR*
speed 0.44 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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