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: ENST00000367048
Querying Taster for transcript #2: ENST00000541436
MT speed 0 s - this script 3.596059 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACAT2polymorphism_automatic0.999999875453413simple_aaeaffectedK211Rsingle base exchangers25683show file
ACAT2polymorphism_automatic0.999999975359851simple_aaeaffectedK240Rsingle base exchangers25683show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.24546587358418e-07 (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) chr6:160196343A>GN/A show variant in all transcripts   IGV
HGNC symbol ACAT2
Ensembl transcript ID ENST00000367048
Genbank transcript ID NM_005891
UniProt peptide Q9BWD1
alteration type single base exchange
alteration region CDS
DNA changes c.632A>G
cDNA.2392A>G
g.14984A>G
AA changes K211R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 211
frameshift no
known variant Reference ID: rs25683
databasehomozygous (G/G)heterozygousallele carriers
1000G4389531391
ExAC17425-208315342
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1511
4.7541
(flanking)3.1771
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 lost14985sequence motif lost- wt: AAAG|gtga
 mu: AGAG.gtga
Acc increased14976wt: 0.20 / mu: 0.33wt: ATTGTACCAGTTTTGGTGTCAACTAGAAAAGGTGAGTATAT
mu: ATTGTACCAGTTTTGGTGTCAACTAGAAGAGGTGAGTATAT		 gtca|ACTA
Donor marginally decreased14985wt: 0.9971 / mu: 0.9967 (marginal change - not scored)wt: AGAAAAGGTGAGTAT
mu: AGAAGAGGTGAGTAT		 AAAA|ggtg
Donor gained149830.89mu: CTAGAAGAGGTGAGT AGAA|gagg
Donor gained149780.93mu: GTCAACTAGAAGAGG CAAC|taga
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      211KEIVPVLVSTRKGLIEVKTDEFPR
mutated  all conserved    211KEIVPVLVSTRRGLIEVKTDEFP
Ptroglodytes  all identical  ENSPTRG00000018759  239KEIVPVLVSTRKGLIEVKTDEFP
Mmulatta  all identical  ENSMMUG00000030261  216KEVVAVLVSSRKGLIEVKTDEFP
Fcatus  all identical  ENSFCAG00000002845  211KEIIPVFVSSRKXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000023832  211KEIVPVLVSSRKGLTEVKIDEFP
Ggallus  all identical  ENSGALG00000011659  260KEIVPVLVPSKKGPIEVKTDEFP
Trubripes  all conserved  ENSTRUG00000005604  211KEIVPVTVMTRQGAVEVKADEFP
Drerio  all identical  ENSDARG00000007127  209KEIVPVTVPSRKGPVEVKVDEFP
Dmelanogaster  all identical  FBgn0035203  207KEIVPVEIKDRKGTTTFSKDEYI
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000021174  211KEIVPVTVPSRKGPVEVKVDEFP
protein features
start (aa)end (aa)featuredetails 
205209STRANDmight get lost (downstream of altered splice site)
212216STRANDmight get lost (downstream of altered splice site)
228232HELIXmight get lost (downstream of altered splice site)
233233MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
235235MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
240243TURNmight get lost (downstream of altered splice site)
248250HELIXmight get lost (downstream of altered splice site)
255265STRANDmight get lost (downstream of altered splice site)
262262CONFLICTV -> A (in Ref. 1; AAB30856).might get lost (downstream of altered splice site)
266271HELIXmight get lost (downstream of altered splice site)
277287STRANDmight get lost (downstream of altered splice site)
290295HELIXmight get lost (downstream of altered splice site)
297308HELIXmight get lost (downstream of altered splice site)
312314HELIXmight get lost (downstream of altered splice site)
317320STRANDmight get lost (downstream of altered splice site)
325335HELIXmight get lost (downstream of altered splice site)
339341HELIXmight get lost (downstream of altered splice site)
348351HELIXmight get lost (downstream of altered splice site)
353353ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
355357TURNmight get lost (downstream of altered splice site)
358373HELIXmight get lost (downstream of altered splice site)
375375CONFLICTR -> G (in Ref. 2; AAM00223).might get lost (downstream of altered splice site)
377384STRANDmight get lost (downstream of altered splice site)
383383ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
385387TURNmight get lost (downstream of altered splice site)
388396STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1194 / 1194
position (AA) of stopcodon in wt / mu AA sequence 398 / 398
position of stopcodon in wt / mu cDNA 2954 / 2954
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 1761 / 1761
chromosome 6
strand 1
last intron/exon boundary 2784
theoretical NMD boundary in CDS 973
length of CDS 1194
coding sequence (CDS) position 632
cDNA position
(for ins/del: last normal base / first normal base)		 2392
gDNA position
(for ins/del: last normal base / first normal base)		 14984
chromosomal position
(for ins/del: last normal base / first normal base)		 160196343
original gDNA sequence snippet AGTTTTGGTGTCAACTAGAAAAGGTGAGTATATCATAGTGG
altered gDNA sequence snippet AGTTTTGGTGTCAACTAGAAGAGGTGAGTATATCATAGTGG
original cDNA sequence snippet AGTTTTGGTGTCAACTAGAAAAGGTCTTATTGAAGTTAAAA
altered cDNA sequence snippet AGTTTTGGTGTCAACTAGAAGAGGTCTTATTGAAGTTAAAA
wildtype AA sequence MNAGSDPVVI VSAARTIIGS FNGALAAVPV QDLGSTVIKE VLKRATVAPE DVSEVIFGHV
LAAGCGQNPV RQASVGAGIP YSVPAWSCQM ICGSGLKAVC LAVQSIGIGD SSIVVAGGME
NMSKAPHLAY LRTGVKIGEM PLTDSILCDG LTDAFHNCHM GITAENVAKK WQVSREDQDK
VAVLSQNRTE NAQKAGHFDK EIVPVLVSTR KGLIEVKTDE FPRHGSNIEA MSKLKPYFLT
DGTGTVTPAN ASGINDGAAA VVLMKKSEAD KRGLTPLARI VSWSQVGVEP SIMGIGPIPA
IKQAVTKAGW SLEDVDIFEI NEAFAAVSAA IVKELGLNPE KVNIEGGAIA LGHPLGASGC
RILVTLLHTL ERMGRSRGVA ALCIGGGMGI AMCVQRE*
mutated AA sequence MNAGSDPVVI VSAARTIIGS FNGALAAVPV QDLGSTVIKE VLKRATVAPE DVSEVIFGHV
LAAGCGQNPV RQASVGAGIP YSVPAWSCQM ICGSGLKAVC LAVQSIGIGD SSIVVAGGME
NMSKAPHLAY LRTGVKIGEM PLTDSILCDG LTDAFHNCHM GITAENVAKK WQVSREDQDK
VAVLSQNRTE NAQKAGHFDK EIVPVLVSTR RGLIEVKTDE FPRHGSNIEA MSKLKPYFLT
DGTGTVTPAN ASGINDGAAA VVLMKKSEAD KRGLTPLARI VSWSQVGVEP SIMGIGPIPA
IKQAVTKAGW SLEDVDIFEI NEAFAAVSAA IVKELGLNPE KVNIEGGAIA LGHPLGASGC
RILVTLLHTL ERMGRSRGVA ALCIGGGMGI AMCVQRE*
speed 0.41 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: 2.4640149082955e-08 (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) chr6:160196343A>GN/A show variant in all transcripts   IGV
HGNC symbol ACAT2
Ensembl transcript ID ENST00000541436
Genbank transcript ID N/A
UniProt peptide Q9BWD1
alteration type single base exchange
alteration region CDS
DNA changes c.719A>G
cDNA.878A>G
g.14984A>G
AA changes K240R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 240
frameshift no
known variant Reference ID: rs25683
databasehomozygous (G/G)heterozygousallele carriers
1000G4389531391
ExAC17425-208315342
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1511
4.7541
(flanking)3.1771
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 lost14985sequence motif lost- wt: AAAG|gtga
 mu: AGAG.gtga
Acc increased14976wt: 0.20 / mu: 0.33wt: ATTGTACCAGTTTTGGTGTCAACTAGAAAAGGTGAGTATAT
mu: ATTGTACCAGTTTTGGTGTCAACTAGAAGAGGTGAGTATAT		 gtca|ACTA
Donor marginally decreased14985wt: 0.9971 / mu: 0.9967 (marginal change - not scored)wt: AGAAAAGGTGAGTAT
mu: AGAAGAGGTGAGTAT		 AAAA|ggtg
Donor gained149830.89mu: CTAGAAGAGGTGAGT AGAA|gagg
Donor gained149780.93mu: GTCAACTAGAAGAGG CAAC|taga
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      240KEIVPVLVSTRKGLIEVKTDEFPR
mutated  all conserved    240KEIVPVLVSTRRGLIEVKTDEFP
Ptroglodytes  all identical  ENSPTRG00000018759  239KEIVPVLVSTRKGLIEVKTDEFP
Mmulatta  all identical  ENSMMUG00000030261  216KEVVAVLVSSRKGLIEVKTDEFP
Fcatus  all identical  ENSFCAG00000002845  211KEIIPVFVSSRKXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000023832  211KEIVPVLVSSRKGLTEVKIDEFP
Ggallus  all identical  ENSGALG00000011659  260KEIVPVLVPSKKGPIEVKTDEFP
Trubripes  all conserved  ENSTRUG00000005604  211KEIVPVTVMTRQGAVEVKADEFP
Drerio  all identical  ENSDARG00000007127  209KEIVPVTVPSRKGPVEVKVDEFP
Dmelanogaster  all identical  FBgn0035203  207KEIVPVEIKDRKGTTTFSKDEYI
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000021174  211KEIVPVTVPSRKGPVEVKVDEFP
protein features
start (aa)end (aa)featuredetails 
240243TURNlost
248250HELIXmight get lost (downstream of altered splice site)
255265STRANDmight get lost (downstream of altered splice site)
262262CONFLICTV -> A (in Ref. 1; AAB30856).might get lost (downstream of altered splice site)
266271HELIXmight get lost (downstream of altered splice site)
277287STRANDmight get lost (downstream of altered splice site)
290295HELIXmight get lost (downstream of altered splice site)
297308HELIXmight get lost (downstream of altered splice site)
312314HELIXmight get lost (downstream of altered splice site)
317320STRANDmight get lost (downstream of altered splice site)
325335HELIXmight get lost (downstream of altered splice site)
339341HELIXmight get lost (downstream of altered splice site)
348351HELIXmight get lost (downstream of altered splice site)
353353ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
355357TURNmight get lost (downstream of altered splice site)
358373HELIXmight get lost (downstream of altered splice site)
375375CONFLICTR -> G (in Ref. 2; AAM00223).might get lost (downstream of altered splice site)
377384STRANDmight get lost (downstream of altered splice site)
383383ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
385387TURNmight get lost (downstream of altered splice site)
388396STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1281 / 1281
position (AA) of stopcodon in wt / mu AA sequence 427 / 427
position of stopcodon in wt / mu cDNA 1440 / 1440
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 160 / 160
chromosome 6
strand 1
last intron/exon boundary 1270
theoretical NMD boundary in CDS 1060
length of CDS 1281
coding sequence (CDS) position 719
cDNA position
(for ins/del: last normal base / first normal base)		 878
gDNA position
(for ins/del: last normal base / first normal base)		 14984
chromosomal position
(for ins/del: last normal base / first normal base)		 160196343
original gDNA sequence snippet AGTTTTGGTGTCAACTAGAAAAGGTGAGTATATCATAGTGG
altered gDNA sequence snippet AGTTTTGGTGTCAACTAGAAGAGGTGAGTATATCATAGTGG
original cDNA sequence snippet AGTTTTGGTGTCAACTAGAAAAGGTCTTATTGAAGTTAAAA
altered cDNA sequence snippet AGTTTTGGTGTCAACTAGAAGAGGTCTTATTGAAGTTAAAA
wildtype AA sequence MGSHPVLRIW GNRRATAASL GRSGGRLSSP RLLRVVAPTL TFAQTSRCSF NGALAAVPVQ
DLGSTVIKEV LKRATVAPED VSEVIFGHVL AAGCGQNPVR QASVGAGIPY SVPAWSCQMI
CGSGLKAVCL AVQSIGIGDS SIVVAGGMEN MSKAPHLAYL RTGVKIGEMP LTDSILCDGL
TDAFHNCHMG ITAENVAKKW QVSREDQDKV AVLSQNRTEN AQKAGHFDKE IVPVLVSTRK
GLIEVKTDEF PRHGSNIEAM SKLKPYFLTD GTGTVTPANA SGINDGAAAV VLMKKSEADK
RGLTPLARIV SWSQVGVEPS IMGIGPIPAI KQAVTKAGWS LEDVDIFEIN EAFAAVSAAI
VKELGLNPEK VNIEGGAIAL GHPLGASGCR ILVTLLHTLE RMGRSRGVAA LCIGGGMGIA
MCVQRE*
mutated AA sequence MGSHPVLRIW GNRRATAASL GRSGGRLSSP RLLRVVAPTL TFAQTSRCSF NGALAAVPVQ
DLGSTVIKEV LKRATVAPED VSEVIFGHVL AAGCGQNPVR QASVGAGIPY SVPAWSCQMI
CGSGLKAVCL AVQSIGIGDS SIVVAGGMEN MSKAPHLAYL RTGVKIGEMP LTDSILCDGL
TDAFHNCHMG ITAENVAKKW QVSREDQDKV AVLSQNRTEN AQKAGHFDKE IVPVLVSTRR
GLIEVKTDEF PRHGSNIEAM SKLKPYFLTD GTGTVTPANA SGINDGAAAV VLMKKSEADK
RGLTPLARIV SWSQVGVEPS IMGIGPIPAI KQAVTKAGWS LEDVDIFEIN EAFAAVSAAI
VKELGLNPEK VNIEGGAIAL GHPLGASGCR ILVTLLHTLE RMGRSRGVAA LCIGGGMGIA
MCVQRE*
speed 1.08 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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