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: ENST00000395051
Querying Taster for transcript #2: ENST00000259407
MT speed 0 s - this script 2.926105 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BAATdisease_causing_automatic0.994284195453892simple_aae0M76Vsingle base exchangers28937579show file
BAATdisease_causing_automatic0.994284195453892simple_aae0M76Vsingle base exchangers28937579show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.994284195453892 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM030785)
  • known disease mutation: rs6720 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:104133461T>CN/A show variant in all transcripts   IGV
HGNC symbol BAAT
Ensembl transcript ID ENST00000395051
Genbank transcript ID N/A
UniProt peptide Q14032
alteration type single base exchange
alteration region CDS
DNA changes c.226A>G
cDNA.297A>G
g.12341A>G
AA changes M76V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 76
frameshift no
known variant Reference ID: rs28937579
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs6720 (pathogenic for Hypercholanemia, familial) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030785)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030785)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030785)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.821
2.3831
(flanking)-0.0260.994
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 241
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      76SLGGDYMGVHPMGLFWSLKPEKLL
mutated  all conserved    76SLGGDYMGVHPVGLFWSLKPEKL
Ptroglodytes  all identical  ENSPTRG00000021198  76SLGGDYMGVHPMGLFWSLKPEKL
Mmulatta  all identical  ENSMMUG00000023793  76SLGGDYMGVHPMGLFWSLKPEKL
Fcatus  no alignment  ENSFCAG00000001414  n/a
Mmusculus  all identical  ENSMUSG00000039653  76SLGGDYMGVHPMGLFWSLKPEKL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  all identical  C31H5.6  75TYFEADGMGLFLSMTPSEDF
Xtropicalis  all identical  ENSXETG00000032936  113ATGGDFHGIYPMGLFWALKPTTP
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1328 / 1328
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 72 / 72
chromosome 9
strand -1
last intron/exon boundary 741
theoretical NMD boundary in CDS 619
length of CDS 1257
coding sequence (CDS) position 226
cDNA position
(for ins/del: last normal base / first normal base)		 297
gDNA position
(for ins/del: last normal base / first normal base)		 12341
chromosomal position
(for ins/del: last normal base / first normal base)		 104133461
original gDNA sequence snippet ATTATATGGGAGTCCACCCCATGGGTCTCTTCTGGTCTCTG
altered gDNA sequence snippet ATTATATGGGAGTCCACCCCGTGGGTCTCTTCTGGTCTCTG
original cDNA sequence snippet ATTATATGGGAGTCCACCCCATGGGTCTCTTCTGGTCTCTG
altered cDNA sequence snippet ATTATATGGGAGTCCACCCCGTGGGTCTCTTCTGGTCTCTG
wildtype AA sequence MIQLTATPVS ALVDEPVHIR ATGLIPFQMV SFQASLEDEN GDMFYSQAHY RANEFGEVDL
NHASSLGGDY MGVHPMGLFW SLKPEKLLTR LLKRDVMNRP FQVQVKLYDL ELIVNNKVAS
APKASLTLER WYVAPGVTRI KVREGRLRGA LFLPPGEGLF PGVIDLFGGL GGLLEFRASL
LASRGFASLA LAYHNYEDLP RKPEVTDLEY FEEAANFLLR HPKVFGSGVG VVSVCQGVQI
GLSMAIYLKQ VTATVLINGT NFPFGIPQVY HGQIHQPLPH SAQLISTNAL GLLELYRTFE
TTQVGASQYL FPIEEAQGQF LFIVGEGDKT INSKAHAEQA IGQLKRHGKN NWTLLSYPGA
GHLIEPPYSP LCCASTTHDL RLHWGGEVIP HAAAQEHAWK EIQRFLRKHL IPDVTSQL*
mutated AA sequence MIQLTATPVS ALVDEPVHIR ATGLIPFQMV SFQASLEDEN GDMFYSQAHY RANEFGEVDL
NHASSLGGDY MGVHPVGLFW SLKPEKLLTR LLKRDVMNRP FQVQVKLYDL ELIVNNKVAS
APKASLTLER WYVAPGVTRI KVREGRLRGA LFLPPGEGLF PGVIDLFGGL GGLLEFRASL
LASRGFASLA LAYHNYEDLP RKPEVTDLEY FEEAANFLLR HPKVFGSGVG VVSVCQGVQI
GLSMAIYLKQ VTATVLINGT NFPFGIPQVY HGQIHQPLPH SAQLISTNAL GLLELYRTFE
TTQVGASQYL FPIEEAQGQF LFIVGEGDKT INSKAHAEQA IGQLKRHGKN NWTLLSYPGA
GHLIEPPYSP LCCASTTHDL RLHWGGEVIP HAAAQEHAWK EIQRFLRKHL IPDVTSQL*
speed 0.49 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: 0.994284195453892 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM030785)
  • known disease mutation: rs6720 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:104133461T>CN/A show variant in all transcripts   IGV
HGNC symbol BAAT
Ensembl transcript ID ENST00000259407
Genbank transcript ID NM_001127610
UniProt peptide Q14032
alteration type single base exchange
alteration region CDS
DNA changes c.226A>G
cDNA.335A>G
g.12341A>G
AA changes M76V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 76
frameshift no
known variant Reference ID: rs28937579
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs6720 (pathogenic for Hypercholanemia, familial) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030785)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030785)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030785)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.821
2.3831
(flanking)-0.0260.994
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 241
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      76SLGGDYMGVHPMGLFWSLKPEKLL
mutated  all conserved    76SLGGDYMGVHPVGLFWSLKPEKL
Ptroglodytes  all identical  ENSPTRG00000021198  76SLGGDYMGVHPMGLFWSLKPEKL
Mmulatta  all identical  ENSMMUG00000023793  76SLGGDYMGVHPMGLFWSLKPEKL
Fcatus  no alignment  ENSFCAG00000001414  n/a
Mmusculus  all identical  ENSMUSG00000039653  76SLGGDYMGVHPMGLFWSLKPEKL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  all identical  C31H5.6  75TYFEADGMGLFLSMTPSEDF
Xtropicalis  all identical  ENSXETG00000032936  113ATGGDFHGIYPMGLFWALKPTTP
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1366 / 1366
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 110 / 110
chromosome 9
strand -1
last intron/exon boundary 779
theoretical NMD boundary in CDS 619
length of CDS 1257
coding sequence (CDS) position 226
cDNA position
(for ins/del: last normal base / first normal base)		 335
gDNA position
(for ins/del: last normal base / first normal base)		 12341
chromosomal position
(for ins/del: last normal base / first normal base)		 104133461
original gDNA sequence snippet ATTATATGGGAGTCCACCCCATGGGTCTCTTCTGGTCTCTG
altered gDNA sequence snippet ATTATATGGGAGTCCACCCCGTGGGTCTCTTCTGGTCTCTG
original cDNA sequence snippet ATTATATGGGAGTCCACCCCATGGGTCTCTTCTGGTCTCTG
altered cDNA sequence snippet ATTATATGGGAGTCCACCCCGTGGGTCTCTTCTGGTCTCTG
wildtype AA sequence MIQLTATPVS ALVDEPVHIR ATGLIPFQMV SFQASLEDEN GDMFYSQAHY RANEFGEVDL
NHASSLGGDY MGVHPMGLFW SLKPEKLLTR LLKRDVMNRP FQVQVKLYDL ELIVNNKVAS
APKASLTLER WYVAPGVTRI KVREGRLRGA LFLPPGEGLF PGVIDLFGGL GGLLEFRASL
LASRGFASLA LAYHNYEDLP RKPEVTDLEY FEEAANFLLR HPKVFGSGVG VVSVCQGVQI
GLSMAIYLKQ VTATVLINGT NFPFGIPQVY HGQIHQPLPH SAQLISTNAL GLLELYRTFE
TTQVGASQYL FPIEEAQGQF LFIVGEGDKT INSKAHAEQA IGQLKRHGKN NWTLLSYPGA
GHLIEPPYSP LCCASTTHDL RLHWGGEVIP HAAAQEHAWK EIQRFLRKHL IPDVTSQL*
mutated AA sequence MIQLTATPVS ALVDEPVHIR ATGLIPFQMV SFQASLEDEN GDMFYSQAHY RANEFGEVDL
NHASSLGGDY MGVHPVGLFW SLKPEKLLTR LLKRDVMNRP FQVQVKLYDL ELIVNNKVAS
APKASLTLER WYVAPGVTRI KVREGRLRGA LFLPPGEGLF PGVIDLFGGL GGLLEFRASL
LASRGFASLA LAYHNYEDLP RKPEVTDLEY FEEAANFLLR HPKVFGSGVG VVSVCQGVQI
GLSMAIYLKQ VTATVLINGT NFPFGIPQVY HGQIHQPLPH SAQLISTNAL GLLELYRTFE
TTQVGASQYL FPIEEAQGQF LFIVGEGDKT INSKAHAEQA IGQLKRHGKN NWTLLSYPGA
GHLIEPPYSP LCCASTTHDL RLHWGGEVIP HAAAQEHAWK EIQRFLRKHL IPDVTSQL*
speed 0.49 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