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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000397068
Querying Taster for transcript #2: ENST00000397067
Querying Taster for transcript #3: ENST00000359918
MT speed 0 s - this script 2.559444 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ART5polymorphism_automatic1.85962356624714e-13simple_aaeaffectedT284Ksingle base exchangers2271586show file
ART5polymorphism_automatic1.85962356624714e-13simple_aaeaffectedT284Ksingle base exchangers2271586show file
ART5polymorphism_automatic2.1491448509714e-06without_aaeaffectedsingle base exchangers2271586show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999814 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:3659993G>TN/A show variant in all transcripts   IGV
HGNC symbol ART5
Ensembl transcript ID ENST00000397068
Genbank transcript ID NM_053017
UniProt peptide Q96L15
alteration type single base exchange
alteration region CDS
DNA changes c.851C>A
cDNA.1244C>A
g.3554C>A
AA changes T284K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 284
frameshift no
known variant Reference ID: rs2271586
databasehomozygous (T/T)heterozygousallele carriers
1000G2989041202
ExAC36181991923537
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6680.027
0.3030.025
(flanking)0.580.025
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased3555wt: 0.3438 / mu: 0.3638 (marginal change - not scored)wt: ATGACGAAGAGGCAC
mu: ATGAAGAAGAGGCAC		 GACG|aaga
Donor marginally increased3559wt: 0.9650 / mu: 0.9694 (marginal change - not scored)wt: CGAAGAGGCACCTCC
mu: AGAAGAGGCACCTCC		 AAGA|ggca
Donor marginally increased3554wt: 0.9912 / mu: 0.9926 (marginal change - not scored)wt: TATGACGAAGAGGCA
mu: TATGAAGAAGAGGCA		 TGAC|gaag
Donor increased3549wt: 0.80 / mu: 0.94wt: CTTCATATGACGAAG
mu: CTTCATATGAAGAAG		 TCAT|atga
Donor increased3551wt: 0.33 / mu: 0.39wt: TCATATGACGAAGAG
mu: TCATATGAAGAAGAG		 ATAT|gacg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      284PGALGTGDLHMTKRHLQQP*
mutated  not conserved    284PGALGTGDLHMKKRHLQQP
Ptroglodytes  not conserved  ENSPTRG00000003197  284PGALGTGDLHMKKRRLQQP
Mmulatta  not conserved  ENSMMUG00000003946  284PGALGTGDLHMKKRRLQQP
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000070424  n/a
Ggallus  no alignment  ENSGALG00000012603  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000094959  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 876 / 876
position (AA) of stopcodon in wt / mu AA sequence 292 / 292
position of stopcodon in wt / mu cDNA 1269 / 1269
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 394 / 394
chromosome 11
strand -1
last intron/exon boundary 1214
theoretical NMD boundary in CDS 770
length of CDS 876
coding sequence (CDS) position 851
cDNA position
(for ins/del: last normal base / first normal base)		 1244
gDNA position
(for ins/del: last normal base / first normal base)		 3554
chromosomal position
(for ins/del: last normal base / first normal base)		 3659993
original gDNA sequence snippet AACGGGTGACCTTCATATGACGAAGAGGCACCTCCAGCAGC
altered gDNA sequence snippet AACGGGTGACCTTCATATGAAGAAGAGGCACCTCCAGCAGC
original cDNA sequence snippet AACGGGTGACCTTCATATGACGAAGAGGCACCTCCAGCAGC
altered cDNA sequence snippet AACGGGTGACCTTCATATGAAGAAGAGGCACCTCCAGCAGC
wildtype AA sequence MALAALMIAL GSLGLHTWQA QAVPILPLGL APDTFDDTYV GCAEEMEEKA APLLKEEMAH
HALLRESWEA AQETWEDKRR GLTLPPGFKA QNGIAIMVYT NSSNTLYWEL NQAVRTGGGS
RELYMRHFPF KALHFYLIRA LQLLRGSGGC SRGPGEVVFR GVGSLRFEPK RLGDSVRLGQ
FASSSLDKAV AHRFGNATLF SLTTCFGAPI QAFSVFPKER EVLIPPHEVF LVTRFSQDGA
QSLVTLWSYN QTCSHFNCAY LGGEKRRGCV SAPGALGTGD LHMTKRHLQQ P*
mutated AA sequence MALAALMIAL GSLGLHTWQA QAVPILPLGL APDTFDDTYV GCAEEMEEKA APLLKEEMAH
HALLRESWEA AQETWEDKRR GLTLPPGFKA QNGIAIMVYT NSSNTLYWEL NQAVRTGGGS
RELYMRHFPF KALHFYLIRA LQLLRGSGGC SRGPGEVVFR GVGSLRFEPK RLGDSVRLGQ
FASSSLDKAV AHRFGNATLF SLTTCFGAPI QAFSVFPKER EVLIPPHEVF LVTRFSQDGA
QSLVTLWSYN QTCSHFNCAY LGGEKRRGCV SAPGALGTGD LHMKKRHLQQ P*
speed 0.32 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: 0.999999999999814 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:3659993G>TN/A show variant in all transcripts   IGV
HGNC symbol ART5
Ensembl transcript ID ENST00000359918
Genbank transcript ID NM_001079536
UniProt peptide Q96L15
alteration type single base exchange
alteration region CDS
DNA changes c.851C>A
cDNA.992C>A
g.3554C>A
AA changes T284K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 284
frameshift no
known variant Reference ID: rs2271586
databasehomozygous (T/T)heterozygousallele carriers
1000G2989041202
ExAC36181991923537
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6680.027
0.3030.025
(flanking)0.580.025
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased3555wt: 0.3438 / mu: 0.3638 (marginal change - not scored)wt: ATGACGAAGAGGCAC
mu: ATGAAGAAGAGGCAC		 GACG|aaga
Donor marginally increased3559wt: 0.9650 / mu: 0.9694 (marginal change - not scored)wt: CGAAGAGGCACCTCC
mu: AGAAGAGGCACCTCC		 AAGA|ggca
Donor marginally increased3554wt: 0.9912 / mu: 0.9926 (marginal change - not scored)wt: TATGACGAAGAGGCA
mu: TATGAAGAAGAGGCA		 TGAC|gaag
Donor increased3549wt: 0.80 / mu: 0.94wt: CTTCATATGACGAAG
mu: CTTCATATGAAGAAG		 TCAT|atga
Donor increased3551wt: 0.33 / mu: 0.39wt: TCATATGACGAAGAG
mu: TCATATGAAGAAGAG		 ATAT|gacg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      284PGALGTGDLHMTKRHLQQP*
mutated  not conserved    284PGALGTGDLHMKKRHLQQP
Ptroglodytes  not conserved  ENSPTRG00000003197  284PGALGTGDLHMKKRRLQQP
Mmulatta  not conserved  ENSMMUG00000003946  284PGALGTGDLHMKKRRLQQP
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000070424  n/a
Ggallus  no alignment  ENSGALG00000012603  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000094959  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 876 / 876
position (AA) of stopcodon in wt / mu AA sequence 292 / 292
position of stopcodon in wt / mu cDNA 1017 / 1017
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 142 / 142
chromosome 11
strand -1
last intron/exon boundary 962
theoretical NMD boundary in CDS 770
length of CDS 876
coding sequence (CDS) position 851
cDNA position
(for ins/del: last normal base / first normal base)		 992
gDNA position
(for ins/del: last normal base / first normal base)		 3554
chromosomal position
(for ins/del: last normal base / first normal base)		 3659993
original gDNA sequence snippet AACGGGTGACCTTCATATGACGAAGAGGCACCTCCAGCAGC
altered gDNA sequence snippet AACGGGTGACCTTCATATGAAGAAGAGGCACCTCCAGCAGC
original cDNA sequence snippet AACGGGTGACCTTCATATGACGAAGAGGCACCTCCAGCAGC
altered cDNA sequence snippet AACGGGTGACCTTCATATGAAGAAGAGGCACCTCCAGCAGC
wildtype AA sequence MALAALMIAL GSLGLHTWQA QAVPILPLGL APDTFDDTYV GCAEEMEEKA APLLKEEMAH
HALLRESWEA AQETWEDKRR GLTLPPGFKA QNGIAIMVYT NSSNTLYWEL NQAVRTGGGS
RELYMRHFPF KALHFYLIRA LQLLRGSGGC SRGPGEVVFR GVGSLRFEPK RLGDSVRLGQ
FASSSLDKAV AHRFGNATLF SLTTCFGAPI QAFSVFPKER EVLIPPHEVF LVTRFSQDGA
QSLVTLWSYN QTCSHFNCAY LGGEKRRGCV SAPGALGTGD LHMTKRHLQQ P*
mutated AA sequence MALAALMIAL GSLGLHTWQA QAVPILPLGL APDTFDDTYV GCAEEMEEKA APLLKEEMAH
HALLRESWEA AQETWEDKRR GLTLPPGFKA QNGIAIMVYT NSSNTLYWEL NQAVRTGGGS
RELYMRHFPF KALHFYLIRA LQLLRGSGGC SRGPGEVVFR GVGSLRFEPK RLGDSVRLGQ
FASSSLDKAV AHRFGNATLF SLTTCFGAPI QAFSVFPKER EVLIPPHEVF LVTRFSQDGA
QSLVTLWSYN QTCSHFNCAY LGGEKRRGCV SAPGALGTGD LHMKKRHLQQ P*
speed 0.28 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: without_aae, prob: 0.999997850855149 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:3659993G>TN/A show variant in all transcripts   IGV
HGNC symbol ART5
Ensembl transcript ID ENST00000397067
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.903C>A
g.3554C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2271586
databasehomozygous (T/T)heterozygousallele carriers
1000G2989041202
ExAC36181991923537
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6680.027
0.3030.025
(flanking)0.580.025
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 257)
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased3555wt: 0.3438 / mu: 0.3638 (marginal change - not scored)wt: ATGACGAAGAGGCAC
mu: ATGAAGAAGAGGCAC		 GACG|aaga
Donor marginally increased3559wt: 0.9650 / mu: 0.9694 (marginal change - not scored)wt: CGAAGAGGCACCTCC
mu: AGAAGAGGCACCTCC		 AAGA|ggca
Donor marginally increased3554wt: 0.9912 / mu: 0.9926 (marginal change - not scored)wt: TATGACGAAGAGGCA
mu: TATGAAGAAGAGGCA		 TGAC|gaag
Donor increased3549wt: 0.80 / mu: 0.94wt: CTTCATATGACGAAG
mu: CTTCATATGAAGAAG		 TCAT|atga
Donor increased3551wt: 0.33 / mu: 0.39wt: TCATATGACGAAGAG
mu: TCATATGAAGAAGAG		 ATAT|gacg
distance from splice site 157
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 131 / 131
chromosome 11
strand -1
last intron/exon boundary 747
theoretical NMD boundary in CDS 566
length of CDS 720
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 903
gDNA position
(for ins/del: last normal base / first normal base)		 3554
chromosomal position
(for ins/del: last normal base / first normal base)		 3659993
original gDNA sequence snippet AACGGGTGACCTTCATATGACGAAGAGGCACCTCCAGCAGC
altered gDNA sequence snippet AACGGGTGACCTTCATATGAAGAAGAGGCACCTCCAGCAGC
original cDNA sequence snippet AACGGGTGACCTTCATATGACGAAGAGGCACCTCCAGCAGC
altered cDNA sequence snippet AACGGGTGACCTTCATATGAAGAAGAGGCACCTCCAGCAGC
wildtype AA sequence MALAALMIAL GSLGLHTWQA QAVPILPLGL APDTFDDTYV GCAEEMEEKA APLLKEEMAH
HALLRESWEA AQETWEDKRR GLTLPPGFKA QNGIAIMVYT NSSNTLYWEL NQAVRTGGGS
RELYMRHFPF KALHFYLIRA LQLLRGSGGC SRGPGEVVFR GVGSLRFEPK RLGDSVRLGQ
FASSSLDKAV AHRFGEKRRG CVSAPGVQLG SQSEGASSLP PWKTLLLAPG EFQLSGVGP*
mutated AA sequence N/A
speed 0.30 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