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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000176643
Querying Taster for transcript #2: ENST00000581518
Querying Taster for transcript #3: ENST00000395575
Querying Taster for transcript #4: ENST00000339618
Querying Taster for transcript #5: ENST00000579855
MT speed 0 s - this script 5.548863 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ALDH3A2disease_causing_automatic0.999999999997501simple_aae0C214Ysingle base exchangers72547564show file
ALDH3A2disease_causing_automatic0.999999999997501simple_aae0C214Ysingle base exchangers72547564show file
ALDH3A2disease_causing_automatic0.999999999997501simple_aae0C214Ysingle base exchangers72547564show file
ALDH3A2disease_causing_automatic0.999999999997501simple_aae0C214Ysingle base exchangers72547564show file
ALDH3A2disease_causing_automatic0.999999999997501simple_aae0C214Ysingle base exchangers72547564show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999997501 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960045)
  • known disease mutation: rs1639 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:19559848G>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH3A2
Ensembl transcript ID ENST00000176643
Genbank transcript ID NM_000382
UniProt peptide P51648
alteration type single base exchange
alteration region CDS
DNA changes c.641G>A
cDNA.1087G>A
g.8400G>A
AA changes C214Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 214
frameshift no
known variant Reference ID: rs72547564
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1639 (pathogenic for Sjögren-Larsson syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
regulatory features HNF4A, Transcription Factor, HNF4A Transcription Factor Binding (1)
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9841
6.0321
(flanking)0.1610.996
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      214PVTLELGGKSPCYIDKDCDLDIVC
mutated  not conserved    214PVTLELGGKSPYYIDKDCDLDIV
Ptroglodytes  all identical  ENSPTRG00000008872  214PVTLELGGKSPCYIDKDCDLDIV
Mmulatta  all identical  ENSMMUG00000014130  214PVTLELGGKSPCYIDKDCDLDIV
Fcatus  all identical  ENSFCAG00000005180  163PVTLELGGKSPCYVDRDCDLDVA
Mmusculus  all identical  ENSMUSG00000010025  214PVTLELGGKSPCYIDRDCDLDVA
Ggallus  all identical  ENSGALG00000004763  217PVTLELGGKSPCYIDTDCDLAVA
Trubripes  all identical  ENSTRUG00000006126  217PVTLELGGKSPCYIDKDCDIAVA
Drerio  all identical  ENSDARG00000029381  217PTTLELGGKSPCYIDKDCDLTIA
Dmelanogaster  all identical  FBgn0010548  283PTTLELGGKSPCYIDKSVDMRTA
Celegans  not conserved  T05H4.13  216PVTLELGGKCPVVVEDDADIDIS
Xtropicalis  all identical  ENSXETG00000013484  214PVTLELGGKSPCYIDKNCDIDIA
protein features
start (aa)end (aa)featuredetails 
1463TOPO_DOMCytoplasmic.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1458 / 1458
position (AA) of stopcodon in wt / mu AA sequence 486 / 486
position of stopcodon in wt / mu cDNA 1904 / 1904
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 447 / 447
chromosome 17
strand 1
last intron/exon boundary 1890
theoretical NMD boundary in CDS 1393
length of CDS 1458
coding sequence (CDS) position 641
cDNA position
(for ins/del: last normal base / first normal base)		 1087
gDNA position
(for ins/del: last normal base / first normal base)		 8400
chromosomal position
(for ins/del: last normal base / first normal base)		 19559848
original gDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered gDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
original cDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered cDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
wildtype AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*
mutated AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPYYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*
speed 1.02 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: 0.999999999997501 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960045)
  • known disease mutation: rs1639 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:19559848G>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH3A2
Ensembl transcript ID ENST00000581518
Genbank transcript ID N/A
UniProt peptide P51648
alteration type single base exchange
alteration region CDS
DNA changes c.641G>A
cDNA.890G>A
g.8400G>A
AA changes C214Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 214
frameshift no
known variant Reference ID: rs72547564
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1639 (pathogenic for Sjögren-Larsson syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
regulatory features HNF4A, Transcription Factor, HNF4A Transcription Factor Binding (1)
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9841
6.0321
(flanking)0.1610.996
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      214PVTLELGGKSPCYIDKDCDLDIVC
mutated  not conserved    214PVTLELGGKSPYYIDKDCDLDIV
Ptroglodytes  all identical  ENSPTRG00000008872  214PVTLELGGKSPCYIDKDCDLDIV
Mmulatta  all identical  ENSMMUG00000014130  214PVTLELGGKSPCYIDKDCDLDIV
Fcatus  all identical  ENSFCAG00000005180  163PVTLELGGKSPCYVDRDCDLDVA
Mmusculus  all identical  ENSMUSG00000010025  214PVTLELGGKSPCYIDRDCDLDVA
Ggallus  all identical  ENSGALG00000004763  217PVTLELGGKSPCYIDTDCDLAVA
Trubripes  all identical  ENSTRUG00000006126  217PVTLELGGKSPCYIDKDCDIAVA
Drerio  all identical  ENSDARG00000029381  217PTTLELGGKSPCYIDKDCDLTIA
Dmelanogaster  all identical  FBgn0010548  283PTTLELGGKSPCYIDKSVDMRTA
Celegans  not conserved  T05H4.13  216PVTLELGGKCPVVVEDDADIDIS
Xtropicalis  all identical  ENSXETG00000013484  214PVTLELGGKSPCYIDKNCDIDIA
protein features
start (aa)end (aa)featuredetails 
1463TOPO_DOMCytoplasmic.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1527 / 1527
position (AA) of stopcodon in wt / mu AA sequence 509 / 509
position of stopcodon in wt / mu cDNA 1776 / 1776
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 250 / 250
chromosome 17
strand 1
last intron/exon boundary 1822
theoretical NMD boundary in CDS 1522
length of CDS 1527
coding sequence (CDS) position 641
cDNA position
(for ins/del: last normal base / first normal base)		 890
gDNA position
(for ins/del: last normal base / first normal base)		 8400
chromosomal position
(for ins/del: last normal base / first normal base)		 19559848
original gDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered gDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
original cDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered cDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
wildtype AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KKYQAVLRRK ALLIFLVVHR LRWSSKQR*
mutated AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPYYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KKYQAVLRRK ALLIFLVVHR LRWSSKQR*
speed 1.23 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: 0.999999999997501 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960045)
  • known disease mutation: rs1639 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:19559848G>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH3A2
Ensembl transcript ID ENST00000395575
Genbank transcript ID N/A
UniProt peptide P51648
alteration type single base exchange
alteration region CDS
DNA changes c.641G>A
cDNA.799G>A
g.8400G>A
AA changes C214Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 214
frameshift no
known variant Reference ID: rs72547564
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1639 (pathogenic for Sjögren-Larsson syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
regulatory features HNF4A, Transcription Factor, HNF4A Transcription Factor Binding (1)
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9841
6.0321
(flanking)0.1610.996
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      214PVTLELGGKSPCYIDKDCDLDIVC
mutated  not conserved    214PVTLELGGKSPYYIDKDCDLDIV
Ptroglodytes  all identical  ENSPTRG00000008872  214PVTLELGGKSPCYIDKDCDLDIV
Mmulatta  all identical  ENSMMUG00000014130  214PVTLELGGKSPCYIDKDCDLDIV
Fcatus  all identical  ENSFCAG00000005180  163PVTLELGGKSPCYVDRDCDLDVA
Mmusculus  all identical  ENSMUSG00000010025  214PVTLELGGKSPCYIDRDCDLDVA
Ggallus  all identical  ENSGALG00000004763  217PVTLELGGKSPCYIDTDCDLAVA
Trubripes  all identical  ENSTRUG00000006126  217PVTLELGGKSPCYIDKDCDIAVA
Drerio  all identical  ENSDARG00000029381  217PTTLELGGKSPCYIDKDCDLTIA
Dmelanogaster  all identical  FBgn0010548  283PTTLELGGKSPCYIDKSVDMRTA
Celegans  not conserved  T05H4.13  216PVTLELGGKCPVVVEDDADIDIS
Xtropicalis  all identical  ENSXETG00000013484  214PVTLELGGKSPCYIDKNCDIDIA
protein features
start (aa)end (aa)featuredetails 
1463TOPO_DOMCytoplasmic.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1458 / 1458
position (AA) of stopcodon in wt / mu AA sequence 486 / 486
position of stopcodon in wt / mu cDNA 1616 / 1616
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 159 / 159
chromosome 17
strand 1
last intron/exon boundary 1602
theoretical NMD boundary in CDS 1393
length of CDS 1458
coding sequence (CDS) position 641
cDNA position
(for ins/del: last normal base / first normal base)		 799
gDNA position
(for ins/del: last normal base / first normal base)		 8400
chromosomal position
(for ins/del: last normal base / first normal base)		 19559848
original gDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered gDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
original cDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered cDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
wildtype AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*
mutated AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPYYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*
speed 1.02 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: 0.999999999997501 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960045)
  • known disease mutation: rs1639 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:19559848G>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH3A2
Ensembl transcript ID ENST00000339618
Genbank transcript ID NM_001031806
UniProt peptide P51648
alteration type single base exchange
alteration region CDS
DNA changes c.641G>A
cDNA.862G>A
g.8400G>A
AA changes C214Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 214
frameshift no
known variant Reference ID: rs72547564
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1639 (pathogenic for Sjögren-Larsson syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
regulatory features HNF4A, Transcription Factor, HNF4A Transcription Factor Binding (1)
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9841
6.0321
(flanking)0.1610.996
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      214PVTLELGGKSPCYIDKDCDLDIVC
mutated  not conserved    214PVTLELGGKSPYYIDKDCDLDIV
Ptroglodytes  all identical  ENSPTRG00000008872  214PVTLELGGKSPCYIDKDCDLDIV
Mmulatta  all identical  ENSMMUG00000014130  214PVTLELGGKSPCYIDKDCDLDIV
Fcatus  all identical  ENSFCAG00000005180  163PVTLELGGKSPCYVDRDCDLDVA
Mmusculus  all identical  ENSMUSG00000010025  214PVTLELGGKSPCYIDRDCDLDVA
Ggallus  all identical  ENSGALG00000004763  217PVTLELGGKSPCYIDTDCDLAVA
Trubripes  all identical  ENSTRUG00000006126  217PVTLELGGKSPCYIDKDCDIAVA
Drerio  all identical  ENSDARG00000029381  217PTTLELGGKSPCYIDKDCDLTIA
Dmelanogaster  all identical  FBgn0010548  283PTTLELGGKSPCYIDKSVDMRTA
Celegans  not conserved  T05H4.13  216PVTLELGGKCPVVVEDDADIDIS
Xtropicalis  all identical  ENSXETG00000013484  214PVTLELGGKSPCYIDKNCDIDIA
protein features
start (aa)end (aa)featuredetails 
1463TOPO_DOMCytoplasmic.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1527 / 1527
position (AA) of stopcodon in wt / mu AA sequence 509 / 509
position of stopcodon in wt / mu cDNA 1748 / 1748
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 222 / 222
chromosome 17
strand 1
last intron/exon boundary 1790
theoretical NMD boundary in CDS 1518
length of CDS 1527
coding sequence (CDS) position 641
cDNA position
(for ins/del: last normal base / first normal base)		 862
gDNA position
(for ins/del: last normal base / first normal base)		 8400
chromosomal position
(for ins/del: last normal base / first normal base)		 19559848
original gDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered gDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
original cDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered cDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
wildtype AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KKYQAVLRRK ALLIFLVVHR LRWSSKQR*
mutated AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPYYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KKYQAVLRRK ALLIFLVVHR LRWSSKQR*
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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999997501 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960045)
  • known disease mutation: rs1639 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:19559848G>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH3A2
Ensembl transcript ID ENST00000579855
Genbank transcript ID N/A
UniProt peptide P51648
alteration type single base exchange
alteration region CDS
DNA changes c.641G>A
cDNA.740G>A
g.8400G>A
AA changes C214Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 214
frameshift no
known variant Reference ID: rs72547564
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1639 (pathogenic for Sjögren-Larsson syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960045)
regulatory features HNF4A, Transcription Factor, HNF4A Transcription Factor Binding (1)
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9841
6.0321
(flanking)0.1610.996
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 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      214PVTLELGGKSPCYIDKDCDLDIVC
mutated  not conserved    214PVTLELGGKSPYYIDKDCDLDIV
Ptroglodytes  all identical  ENSPTRG00000008872  214PVTLELGGKSPCYIDKDCDLDIV
Mmulatta  all identical  ENSMMUG00000014130  214PVTLELGGKSPCYIDKDCDLDIV
Fcatus  all identical  ENSFCAG00000005180  163PVTLELGGKSPCYVDRDCDLDVA
Mmusculus  all identical  ENSMUSG00000010025  214PVTLELGGKSPCYIDRDCDLDVA
Ggallus  all identical  ENSGALG00000004763  217PVTLELGGKSPCYIDTDCDLAVA
Trubripes  all identical  ENSTRUG00000006126  217PVTLELGGKSPCYIDKDCDIAVA
Drerio  all identical  ENSDARG00000029381  217PTTLELGGKSPCYIDKDCDLTIA
Dmelanogaster  all identical  FBgn0010548  283PTTLELGGKSPCYIDKSVDMRTA
Celegans  not conserved  T05H4.13  216PVTLELGGKCPVVVEDDADIDIS
Xtropicalis  all identical  ENSXETG00000013484  214PVTLELGGKSPCYIDKNCDIDIA
protein features
start (aa)end (aa)featuredetails 
1463TOPO_DOMCytoplasmic.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1458 / 1458
position (AA) of stopcodon in wt / mu AA sequence 486 / 486
position of stopcodon in wt / mu cDNA 1557 / 1557
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 100 / 100
chromosome 17
strand 1
last intron/exon boundary 1543
theoretical NMD boundary in CDS 1393
length of CDS 1458
coding sequence (CDS) position 641
cDNA position
(for ins/del: last normal base / first normal base)		 740
gDNA position
(for ins/del: last normal base / first normal base)		 8400
chromosomal position
(for ins/del: last normal base / first normal base)		 19559848
original gDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered gDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
original cDNA sequence snippet ACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTG
altered cDNA sequence snippet ACTGGGAGGGAAAAGTCCATATTATATTGATAAAGATTGTG
wildtype AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*
mutated AA sequence MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC KSEFNVYSQE
VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ PLGVVLIIGA WNYPFVLTIQ
PLIGAIAAGN AVIIKPSELS ENTAKILAKL LPQYLDQDLY IVINGGVEET TELLKQRFDH
IFYTGNTAVG KIVMEAAAKH LTPVTLELGG KSPYYIDKDC DLDIVCRRIT WGKYMNCGQT
CIAPDYILCE ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN FINEREKPLA
LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG GVGSSGMGAY HGKHSFDTFS
HQRPCLLKSL KREGANKLRY PPNSQSKVDW GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV
KAEYY*
speed 1.35 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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Problems