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MutationTaster - study a chromosomal position

 MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000265838
MT speed 0 s - this script 3.385071 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACAT1disease_causing0.999999999640478simple_aaeaffectedA380Tsingle base exchangers120074140show file

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Prediction

disease causing

 Model: simple_aae, prob: 0.999999999640478      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs2832 (probable pathogenic)
  • known disease mutation at this position (HGMD CM910005)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:108017061G>AN/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.1138G>A
cDNA.1229G>A
g.24819G>A
AA changes A380T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 380
frameshift no
known variant Reference ID: rs120074140
Allele 'A' was neither found in ExAC nor 1000G.
known as potential disease variant: rs2832 (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 CM910005)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910005)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910005)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0010.992
4.6151
(flanking)4.5761
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased24811wt: 0.32 / mu: 0.46wt: TATCAATGGAGGAGC
mu: TATCAATGGAGGAAC		 TCAA|tgga
Donor gained248140.34mu: CAATGGAGGAACTGT ATGG|agga
Donor gained248150.74mu: AATGGAGGAACTGTT TGGA|ggaa
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      380IDPQKVNINGGAVSLGHPIGMSGA
mutated  not conserved    380IDPQKVNINGGTVSLGHPIGMSG
Ptroglodytes  all identical  ENSPTRG00000004247  380IDPQKVNINGGAVSLGHPIGMSG
Mmulatta  all identical  ENSMMUG00000004161  380IDPQKVNINGGAVSLGHPIGMSG
Fcatus  all identical  ENSFCAG00000012428  380LDPQKVNINGGAVSLGHPIGMSG
Mmusculus  all identical  ENSMUSG00000032047  377IDPQKVNIHGGAVSLGHPIGMSG
Ggallus  all identical  ENSGALG00000017163  362IDPQKVNINGGAVSL
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000045888  373VNINGGAVSLGHPIGMSG
Dmelanogaster  all identical  FBgn0029969  363GAVSIGHPIGMSG
Celegans  all identical  T02G5.8  360VDPSLVNPHGGAVSIGHPIGMSG
Xtropicalis  all identical  ENSXETG00000014477  373GAVSLGHPIGMSG
protein features
start (aa)end (aa)featuredetails 
380380CONFLICTA -> S (in Ref. 2; BAA01387).lost
380383HELIXlost
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 1138
cDNA position
(for ins/del: last normal base / first normal base)		 1229
gDNA position
(for ins/del: last normal base / first normal base)		 24819
chromosomal position
(for ins/del: last normal base / first normal base)		 108017061
original gDNA sequence snippet AAGTGAATATCAATGGAGGAGCTGTTTCTCTGGGACATCCA
altered gDNA sequence snippet AAGTGAATATCAATGGAGGAACTGTTTCTCTGGGACATCCA
original cDNA sequence snippet AAGTGAATATCAATGGAGGAGCTGTTTCTCTGGGACATCCA
altered cDNA sequence snippet AAGTGAATATCAATGGAGGAACTGTTTCTCTGGGACATCCA
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 MCGHQDVMVA GGMESMSNVP YVMNRGSTPY GGVKLEDLIV
KDGLTDVYNK IHMGSCAENT AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV
TVKGQPDVVV KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA
AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAASMVLKDV GLKKEDIAMW EVNEAFSLVV
LANIKMLEID PQKVNINGGT 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
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