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: ENST00000262097
Querying Taster for transcript #2: ENST00000381733
Querying Taster for transcript #3: ENST00000520781
Querying Taster for transcript #4: ENST00000314146
Querying Taster for transcript #5: ENST00000417108
MT speed 0 s - this script 3.543642 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ASAH1disease_causing_automatic0.99999998699729simple_aaeaffected0N320Dsingle base exchangers137853596show file
ASAH1disease_causing_automatic0.99999998699729simple_aaeaffected0N336Dsingle base exchangers137853596show file
ASAH1disease_causing_automatic0.99999998699729simple_aaeaffected0N295Dsingle base exchangers137853596show file
ASAH1disease_causing_automatic0.99999998699729simple_aaeaffected0N314Dsingle base exchangers137853596show file
ASAH1disease_causing_automatic0.99999998699729simple_aaeaffected0N230Dsingle base exchangers137853596show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999998699729 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010155)
  • known disease mutation: rs94 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17916933T>CN/A show variant in all transcripts   IGV
HGNC symbol ASAH1
Ensembl transcript ID ENST00000262097
Genbank transcript ID NM_177924
UniProt peptide Q13510
alteration type single base exchange
alteration region CDS
DNA changes c.958A>G
cDNA.1270A>G
g.25562A>G
AA changes N320D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 320
frameshift no
known variant Reference ID: rs137853596
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs94 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.71
4.70.998
(flanking)-1.8010.11
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained255610.35mu: CAAACAGATTATGAC AACA|gatt
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      320AKQGRWYVVQTNYDRWKHPFFLDD
mutated  all conserved    320AKQGRWYVVQTDYDRWKHPFFLD
Ptroglodytes  all identical  ENSPTRG00000020027  320AKQGRWYVVQTNYDRWKHPFFLD
Mmulatta  all identical  ENSMMUG00000015497  336AKQGRWYVVQTNYDRWKN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  319PKHGRWYVVQTNYDRWKNTLFID
Ggallus  all identical  ENSGALG00000013599  318IKKGTWYVIETNYDRWKPPLVLD
Trubripes  all identical  ENSTRUG00000016165  326LGRWYVLETNYDHWKEPLFLD
Drerio  all identical  ENSDARG00000037091  315LMLGRWYVLETNYDHWDKPM
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  318TSPHGWYLLETNYDQGTEDLYLD
Xtropicalis  all identical  ENSXETG00000012463  324LKEGRWYVLETNYDRWKAPLPID
protein features
start (aa)end (aa)featuredetails 
342342CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
348348CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
364364CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1188 / 1188
position (AA) of stopcodon in wt / mu AA sequence 396 / 396
position of stopcodon in wt / mu cDNA 1500 / 1500
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 313 / 313
chromosome 8
strand -1
last intron/exon boundary 1411
theoretical NMD boundary in CDS 1048
length of CDS 1188
coding sequence (CDS) position 958
cDNA position
(for ins/del: last normal base / first normal base)		 1270
gDNA position
(for ins/del: last normal base / first normal base)		 25562
chromosomal position
(for ins/del: last normal base / first normal base)		 17916933
original gDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered gDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
original cDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered cDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
wildtype AA sequence MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK
RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA
AVTDIPLGEI ISFNIFYELF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE
QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI
LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW*
mutated AA sequence MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK
RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA
AVTDIPLGEI ISFNIFYELF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE
QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI
LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
SLDVYELDAK QGRWYVVQTD YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW*
speed 0.38 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: 0.99999998699729 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010155)
  • known disease mutation: rs94 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17916933T>CN/A show variant in all transcripts   IGV
HGNC symbol ASAH1
Ensembl transcript ID ENST00000381733
Genbank transcript ID NM_004315
UniProt peptide Q13510
alteration type single base exchange
alteration region CDS
DNA changes c.1006A>G
cDNA.1173A>G
g.25562A>G
AA changes N336D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 336
frameshift no
known variant Reference ID: rs137853596
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs94 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.71
4.70.998
(flanking)-1.8010.11
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained255610.35mu: CAAACAGATTATGAC AACA|gatt
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      336AKQGRWYVVQTNYDRWKHPFFLDD
mutated  all conserved    336AKQGRWYVVQTDYDRWKHPFFLD
Ptroglodytes  all identical  ENSPTRG00000020027  320AKQGRWYVVQTNYDRWKH
Mmulatta  all identical  ENSMMUG00000015497  336AKQGRWYVVQTNYDRWKNPFFLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  319PKHGRWYVVQTNYDRWKN
Ggallus  all identical  ENSGALG00000013599  318IKKGTWYVIETNYDRWKPPL
Trubripes  all identical  ENSTRUG00000016165  326LKLGRWYVLETNYDHWKEPLFLD
Drerio  all identical  ENSDARG00000037091  315LMLGRWYVLETNYDHWDKPMFLD
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  318TSPHGWYLLETNYDQGTEDL
Xtropicalis  all identical  ENSXETG00000012463  324LKEGRWYVLETNYDRW
protein features
start (aa)end (aa)featuredetails 
342342CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
348348CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
364364CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1236 / 1236
position (AA) of stopcodon in wt / mu AA sequence 412 / 412
position of stopcodon in wt / mu cDNA 1403 / 1403
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 168 / 168
chromosome 8
strand -1
last intron/exon boundary 1314
theoretical NMD boundary in CDS 1096
length of CDS 1236
coding sequence (CDS) position 1006
cDNA position
(for ins/del: last normal base / first normal base)		 1173
gDNA position
(for ins/del: last normal base / first normal base)		 25562
chromosomal position
(for ins/del: last normal base / first normal base)		 17916933
original gDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered gDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
original cDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered cDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
wildtype AA sequence MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTYR
GAVPWYTINL DLPPYKRWHE LMLDKAPVLK VIVNSLKNMI NTFVPSGKIM QVVDEKLPGL
LGNFPGPFEE EMKGIAAVTD IPLGEIISFN IFYELFTICT SIVAEDKKGH LIHGRNMDFG
VFLGWNINND TWVITEQLKP LTVNLDFQRN NKTVFKASSF AGYVGMLTGF KPGLFSLTLN
ERFSINGGYL GILEWILGKK DVMWIGFLTR TVLENSTSYE EAKNLLTKTK ILAPAYFILG
GNQSGEGCVI TRDRKESLDV YELDAKQGRW YVVQTNYDRW KHPFFLDDRR TPAKMCLNRT
SQENISFETM YDVLSTKPVL NKLTVYTTLI DVTKGQFETY LRDCPDPCIG W*
mutated AA sequence MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTYR
GAVPWYTINL DLPPYKRWHE LMLDKAPVLK VIVNSLKNMI NTFVPSGKIM QVVDEKLPGL
LGNFPGPFEE EMKGIAAVTD IPLGEIISFN IFYELFTICT SIVAEDKKGH LIHGRNMDFG
VFLGWNINND TWVITEQLKP LTVNLDFQRN NKTVFKASSF AGYVGMLTGF KPGLFSLTLN
ERFSINGGYL GILEWILGKK DVMWIGFLTR TVLENSTSYE EAKNLLTKTK ILAPAYFILG
GNQSGEGCVI TRDRKESLDV YELDAKQGRW YVVQTDYDRW KHPFFLDDRR TPAKMCLNRT
SQENISFETM YDVLSTKPVL NKLTVYTTLI DVTKGQFETY LRDCPDPCIG W*
speed 0.36 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: 0.99999998699729 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010155)
  • known disease mutation: rs94 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17916933T>CN/A show variant in all transcripts   IGV
HGNC symbol ASAH1
Ensembl transcript ID ENST00000520781
Genbank transcript ID N/A
UniProt peptide Q13510
alteration type single base exchange
alteration region CDS
DNA changes c.883A>G
cDNA.1195A>G
g.25562A>G
AA changes N295D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 295
frameshift no
known variant Reference ID: rs137853596
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs94 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.71
4.70.998
(flanking)-1.8010.11
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained255610.35mu: CAAACAGATTATGAC AACA|gatt
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      295AKQGRWYVVQTNYDRWKHPFFLDD
mutated  all conserved    295AKQGRWYVVQTDYDRWK
Ptroglodytes  all identical  ENSPTRG00000020027  320AKQGRWYVVQTNYDRWKHPFFLD
Mmulatta  all identical  ENSMMUG00000015497  336AKQGRWYVVQTNYDRWKN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  319PKHGRWYVVQTNYDRWKNTLFID
Ggallus  all identical  ENSGALG00000013599  318IKKGTWYVIETNYDRWKPPLVLD
Trubripes  all identical  ENSTRUG00000016165  326LGRWYVLETNYDHWKEPLFLD
Drerio  all identical  ENSDARG00000037091  315LMLGRWYVLETNYDHWDKPM
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  318TSPHGWYLLETNYDQGTEDLYLD
Xtropicalis  all identical  ENSXETG00000012463  324LKEGRWYVLETNYDRWKAPLPID
protein features
start (aa)end (aa)featuredetails 
342342CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
348348CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
364364CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1113 / 1113
position (AA) of stopcodon in wt / mu AA sequence 371 / 371
position of stopcodon in wt / mu cDNA 1425 / 1425
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 313 / 313
chromosome 8
strand -1
last intron/exon boundary 1336
theoretical NMD boundary in CDS 973
length of CDS 1113
coding sequence (CDS) position 883
cDNA position
(for ins/del: last normal base / first normal base)		 1195
gDNA position
(for ins/del: last normal base / first normal base)		 25562
chromosomal position
(for ins/del: last normal base / first normal base)		 17916933
original gDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered gDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
original cDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered cDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
wildtype AA sequence MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK
RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA
AVTDIPLGHL IHGRNMDFGV FLGWNINNDT WVITEQLKPL TVNLDFQRNN KTVFKASSFA
GYVGMLTGFK PGLFSLTLNE RFSINGGYLG ILEWILGKKD VMWIGFLTRT VLENSTSYEE
AKNLLTKTKI LAPAYFILGG NQSGEGCVIT RDRKESLDVY ELDAKQGRWY VVQTNYDRWK
HPFFLDDRRT PAKMCLNRTS QENISFETMY DVLSTKPVLN KLTVYTTLID VTKGQFETYL
RDCPDPCIGW *
mutated AA sequence MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK
RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA
AVTDIPLGHL IHGRNMDFGV FLGWNINNDT WVITEQLKPL TVNLDFQRNN KTVFKASSFA
GYVGMLTGFK PGLFSLTLNE RFSINGGYLG ILEWILGKKD VMWIGFLTRT VLENSTSYEE
AKNLLTKTKI LAPAYFILGG NQSGEGCVIT RDRKESLDVY ELDAKQGRWY VVQTDYDRWK
HPFFLDDRRT PAKMCLNRTS QENISFETMY DVLSTKPVLN KLTVYTTLID VTKGQFETYL
RDCPDPCIGW *
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

disease causing

 Model: simple_aae, prob: 0.99999998699729 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010155)
  • known disease mutation: rs94 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17916933T>CN/A show variant in all transcripts   IGV
HGNC symbol ASAH1
Ensembl transcript ID ENST00000314146
Genbank transcript ID NM_001127505
UniProt peptide Q13510
alteration type single base exchange
alteration region CDS
DNA changes c.940A>G
cDNA.1124A>G
g.25562A>G
AA changes N314D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 314
frameshift no
known variant Reference ID: rs137853596
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs94 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.71
4.70.998
(flanking)-1.8010.11
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained255610.35mu: CAAACAGATTATGAC AACA|gatt
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      314AKQGRWYVVQTNYDRWKHPFFLDD
mutated  all conserved    314AKQGRWYVVQTDYDRWKHPFFLD
Ptroglodytes  all identical  ENSPTRG00000020027  320NYDRWKHPFFLD
Mmulatta  all identical  ENSMMUG00000015497  336AKQGRWYVVQTNYDRWKNPFFLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  319NYDRWKNTLFID
Ggallus  all identical  ENSGALG00000013599  318IKKGTWYVIETNYDRWKPPLVLD
Trubripes  all identical  ENSTRUG00000016165  326LKLGRWYVLETNYDHWKEPLFLD
Drerio  all identical  ENSDARG00000037091  315VLETNYDHWDKPMFLD
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  318TSPHGWYLLETNYDQGTEDLYLD
Xtropicalis  all identical  ENSXETG00000012463  324ETNYDRWKAPLPID
protein features
start (aa)end (aa)featuredetails 
342342CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
348348CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
364364CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1170 / 1170
position (AA) of stopcodon in wt / mu AA sequence 390 / 390
position of stopcodon in wt / mu cDNA 1354 / 1354
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 185 / 185
chromosome 8
strand -1
last intron/exon boundary 1265
theoretical NMD boundary in CDS 1030
length of CDS 1170
coding sequence (CDS) position 940
cDNA position
(for ins/del: last normal base / first normal base)		 1124
gDNA position
(for ins/del: last normal base / first normal base)		 25562
chromosomal position
(for ins/del: last normal base / first normal base)		 17916933
original gDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered gDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
original cDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered cDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
wildtype AA sequence MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTVF
PAVIRYRGAV PWYTINLDLP PYKRWHELML DKAPVPGLLG NFPGPFEEEM KGIAAVTDIP
LGEIISFNIF YELFTICTSI VAEDKKGHLI HGRNMDFGVF LGWNINNDTW VITEQLKPLT
VNLDFQRNNK TVFKASSFAG YVGMLTGFKP GLFSLTLNER FSINGGYLGI LEWILGKKDV
MWIGFLTRTV LENSTSYEEA KNLLTKTKIL APAYFILGGN QSGEGCVITR DRKESLDVYE
LDAKQGRWYV VQTNYDRWKH PFFLDDRRTP AKMCLNRTSQ ENISFETMYD VLSTKPVLNK
LTVYTTLIDV TKGQFETYLR DCPDPCIGW*
mutated AA sequence MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTVF
PAVIRYRGAV PWYTINLDLP PYKRWHELML DKAPVPGLLG NFPGPFEEEM KGIAAVTDIP
LGEIISFNIF YELFTICTSI VAEDKKGHLI HGRNMDFGVF LGWNINNDTW VITEQLKPLT
VNLDFQRNNK TVFKASSFAG YVGMLTGFKP GLFSLTLNER FSINGGYLGI LEWILGKKDV
MWIGFLTRTV LENSTSYEEA KNLLTKTKIL APAYFILGGN QSGEGCVITR DRKESLDVYE
LDAKQGRWYV VQTDYDRWKH PFFLDDRRTP AKMCLNRTSQ ENISFETMYD VLSTKPVLNK
LTVYTTLIDV TKGQFETYLR DCPDPCIGW*
speed 0.81 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: 0.99999998699729 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010155)
  • known disease mutation: rs94 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17916933T>CN/A show variant in all transcripts   IGV
HGNC symbol ASAH1
Ensembl transcript ID ENST00000417108
Genbank transcript ID N/A
UniProt peptide Q13510
alteration type single base exchange
alteration region CDS
DNA changes c.688A>G
cDNA.919A>G
g.25562A>G
AA changes N230D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 230
frameshift no
known variant Reference ID: rs137853596
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs94 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.71
4.70.998
(flanking)-1.8010.11
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained255610.35mu: CAAACAGATTATGAC AACA|gatt
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      230AKQGRWYVVQTNYDRWKHPFFLDD
mutated  all conserved    230AKQGRWYVVQTDYDRWKHPFFL
Ptroglodytes  all identical  ENSPTRG00000020027  320AKQGRWYVVQTNYDRWKHPFFLD
Mmulatta  all identical  ENSMMUG00000015497  336AKQGRWYVVQTNYDRWKNPFFLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  319PKHGRWYVVQTNYDRWKNTLFID
Ggallus  all identical  ENSGALG00000013599  318KGTWYVIETNYDRWKPPLVLD
Trubripes  all identical  ENSTRUG00000016165  326LKLGRWYVLETNYDHWKEPLFLD
Drerio  all identical  ENSDARG00000037091  315LMLGRWYVLETNYDHWDKPMFLD
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  318YLLETNYDQGTEDLYLD
Xtropicalis  all identical  ENSXETG00000012463  324LKEGRWYVLETNYDRWKAPLPID
protein features
start (aa)end (aa)featuredetails 
233233CONFLICTY -> N (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
259259CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
286286CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
342342CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
348348CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
364364CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 918 / 918
position (AA) of stopcodon in wt / mu AA sequence 306 / 306
position of stopcodon in wt / mu cDNA 1149 / 1149
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 232 / 232
chromosome 8
strand -1
last intron/exon boundary 1060
theoretical NMD boundary in CDS 778
length of CDS 918
coding sequence (CDS) position 688
cDNA position
(for ins/del: last normal base / first normal base)		 919
gDNA position
(for ins/del: last normal base / first normal base)		 25562
chromosomal position
(for ins/del: last normal base / first normal base)		 17916933
original gDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered gDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
original cDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered cDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
wildtype AA sequence MLDKAPVLKV IVNSLKNMIN TFVPSGKIMQ VVDEKLPGLL GNFPGPFEEE MKGIAAVTDI
PLGHLIHGRN MDFGVFLGWN INNDTWVITE QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM
LTGFKPGLFS LTLNERFSIN GGYLGILEWI LGKKDVMWIG FLTRTVLENS TSYEEAKNLL
TKTKILAPAY FILGGNQSGE GCVITRDRKE SLDVYELDAK QGRWYVVQTN YDRWKHPFFL
DDRRTPAKMC LNRTSQENIS FETMYDVLST KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD
PCIGW*
mutated AA sequence MLDKAPVLKV IVNSLKNMIN TFVPSGKIMQ VVDEKLPGLL GNFPGPFEEE MKGIAAVTDI
PLGHLIHGRN MDFGVFLGWN INNDTWVITE QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM
LTGFKPGLFS LTLNERFSIN GGYLGILEWI LGKKDVMWIG FLTRTVLENS TSYEEAKNLL
TKTKILAPAY FILGGNQSGE GCVITRDRKE SLDVYELDAK QGRWYVVQTD YDRWKHPFFL
DDRRTPAKMC LNRTSQENIS FETMYDVLST KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD
PCIGW*
speed 0.43 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