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 7.2 s - this script 8.393249 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ASAH1disease_causing0.999992355740153simple_aaeaffectedY52Csingle base exchangers137853595show file
ASAH1disease_causing0.999999616636903simple_aaeaffectedY36Csingle base exchangers137853595show file
ASAH1disease_causing0.999999616636903simple_aaeaffectedY52Csingle base exchangers137853595show file
ASAH1disease_causing0.999999616636903simple_aaeaffectedY36Csingle base exchangers137853595show file
ASAH1disease_causing1without_aaeaffectedsingle base exchangers137853595show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999992355740153      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs93 (probable pathogenic)
  • known disease mutation at this position (HGMD CM010154)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17933068T>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.155A>G
cDNA.339A>G
g.9427A>G
AA changes Y52C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
52
frameshift no
known variant Reference ID: rs137853595
Allele 'C' was neither found in ExAC nor 1000G.
known as potential disease variant: rs93 (probable pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0150.998
2.5581
(flanking)2.5581
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9437wt: 0.9432 / mu: 0.9519 (marginal change - not scored)wt: AAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACAT
mu: AAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACAT
 ttca|GGAC
Acc marginally increased9438wt: 0.9787 / mu: 0.9800 (marginal change - not scored)wt: AATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACATC
mu: AATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACATC
 tcag|GACC
Acc increased9436wt: 0.34 / mu: 0.38wt: AAAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACA
mu: AAAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACA
 cttc|AGGA
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      52AQWTEDCRKSTYPPSGPTVFPAVI
mutated  not conserved    52AQWTEDCRKSTCPPSGPTVF
Ptroglodytes  all identical  ENSPTRG00000020027  36WTEDCRKSTYPPSGPT-----
Mmulatta  all identical  ENSMMUG00000015497  52AQWTEDCRKSTYPPSGPT--
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  35WTEDCRKSTYPPSGPT-----
Ggallus  all identical  ENSGALG00000013599  36EDCRSKMYPPSGPT-----
Trubripes  all identical  ENSTRUG00000016165  48PPYTEECRANMYPPKGPT-----
Drerio  all identical  ENSDARG00000037091  32VQGLEDCRSGMYPPKGPT-----
Dmelanogaster  no homologue    
Celegans  no alignment  K11D2.2  n/a
Xtropicalis  all identical  ENSXETG00000012463  38YTEDCRSGTYPPTGPT-----
protein features
start (aa)end (aa)featuredetails 
122122CONFLICTV -> A (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
155155CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 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 155
cDNA position
(for ins/del: last normal base / first normal base)
339
gDNA position
(for ins/del: last normal base / first normal base)
9427
chromosomal position
(for ins/del: last normal base / first normal base)
17933068
original gDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered gDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
original cDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACTG
altered cDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACTG
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 TCPPSGPTVF
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*
speed 1.52 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: 0.999999616636903      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs93 (probable pathogenic)
  • known disease mutation at this position (HGMD CM010154)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17933068T>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.107A>G
cDNA.419A>G
g.9427A>G
AA changes Y36C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
36
frameshift no
known variant Reference ID: rs137853595
Allele 'C' was neither found in ExAC nor 1000G.
known as potential disease variant: rs93 (probable pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0150.998
2.5581
(flanking)2.5581
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9437wt: 0.9432 / mu: 0.9519 (marginal change - not scored)wt: AAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACAT
mu: AAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACAT
 ttca|GGAC
Acc marginally increased9438wt: 0.9787 / mu: 0.9800 (marginal change - not scored)wt: AATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACATC
mu: AATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACATC
 tcag|GACC
Acc increased9436wt: 0.34 / mu: 0.38wt: AAAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACA
mu: AAAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACA
 cttc|AGGA
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36PPWTEDCRKSTYPPSGPTYRGAVP
mutated  not conserved    36PPWTEDCRKSTCPPSGPTYRGAV
Ptroglodytes  all identical  ENSPTRG00000020027  36PPWTEDCRKSTYPPSGPTYRGPV
Mmulatta  all identical  ENSMMUG00000015497  52WTEDCRKSTYPPSGPTYRGPA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  36PPWTEDCRKSTYPPSGPTYRGPV
Ggallus  all identical  ENSGALG00000013599  38-PYGEDCRSKMYPPSGPTFKGNV
Trubripes  all identical  ENSTRUG00000016165  42PPYTEECRANMYPPKGPTFNGAV
Drerio  all identical  ENSDARG00000037091  32EDCRSGMYPPKGPTYRGNV
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  33PAPFKDHCILDDKQNLYDPSK---QFDI
Xtropicalis  all identical  ENSXETG00000012463  36PPYTEDCRSGTYPPTGPTFKGNI
protein features
start (aa)end (aa)featuredetails 
122122CONFLICTV -> A (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
155155CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 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 107
cDNA position
(for ins/del: last normal base / first normal base)
419
gDNA position
(for ins/del: last normal base / first normal base)
9427
chromosomal position
(for ins/del: last normal base / first normal base)
17933068
original gDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered gDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
original cDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered cDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
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 CRKSTCPPSG 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 *
speed 1.62 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: 0.999999616636903      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs93 (probable pathogenic)
  • known disease mutation at this position (HGMD CM010154)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17933068T>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.155A>G
cDNA.322A>G
g.9427A>G
AA changes Y52C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
52
frameshift no
known variant Reference ID: rs137853595
Allele 'C' was neither found in ExAC nor 1000G.
known as potential disease variant: rs93 (probable pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0150.998
2.5581
(flanking)2.5581
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9437wt: 0.9432 / mu: 0.9519 (marginal change - not scored)wt: AAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACAT
mu: AAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACAT
 ttca|GGAC
Acc marginally increased9438wt: 0.9787 / mu: 0.9800 (marginal change - not scored)wt: AATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACATC
mu: AATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACATC
 tcag|GACC
Acc increased9436wt: 0.34 / mu: 0.38wt: AAAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACA
mu: AAAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACA
 cttc|AGGA
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      52AQWTEDCRKSTYPPSGPTYRGAVP
mutated  not conserved    52AQWTEDCRKSTCPPSGPTYR
Ptroglodytes  all identical  ENSPTRG00000020027  36WTEDCRKSTYPPSGPTYRGPV
Mmulatta  all identical  ENSMMUG00000015497  52AQWTEDCRKSTYPPSGPTYR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  35WTEDCRKSTYPPSGPTYRGPV
Ggallus  all identical  ENSGALG00000013599  36EDCRSKMYPPSGPTFKGNV
Trubripes  all identical  ENSTRUG00000016165  48PPYTEECRANMYPPKGPTFNGAV
Drerio  all identical  ENSDARG00000037091  32VQGLEDCRSGMYPPKGPTYRGNV
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  38DDKQNLYDPSK---QFDI
Xtropicalis  all identical  ENSXETG00000012463  38YTEDCRSGTYPPTGPTFKGNI
protein features
start (aa)end (aa)featuredetails 
122122CONFLICTV -> A (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
155155CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 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 155
cDNA position
(for ins/del: last normal base / first normal base)
322
gDNA position
(for ins/del: last normal base / first normal base)
9427
chromosomal position
(for ins/del: last normal base / first normal base)
17933068
original gDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered gDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
original cDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered cDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
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 TCPPSGPTYR
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*
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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999616636903      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs93 (probable pathogenic)
  • known disease mutation at this position (HGMD CM010154)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17933068T>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.107A>G
cDNA.419A>G
g.9427A>G
AA changes Y36C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
36
frameshift no
known variant Reference ID: rs137853595
Allele 'C' was neither found in ExAC nor 1000G.
known as potential disease variant: rs93 (probable pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0150.998
2.5581
(flanking)2.5581
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9437wt: 0.9432 / mu: 0.9519 (marginal change - not scored)wt: AAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACAT
mu: AAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACAT
 ttca|GGAC
Acc marginally increased9438wt: 0.9787 / mu: 0.9800 (marginal change - not scored)wt: AATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACATC
mu: AATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACATC
 tcag|GACC
Acc increased9436wt: 0.34 / mu: 0.38wt: AAAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACA
mu: AAAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACA
 cttc|AGGA
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36PPWTEDCRKSTYPPSGPTYRGAVP
mutated  not conserved    36PPWTEDCRKSTCPPSGPTYRGAV
Ptroglodytes  all identical  ENSPTRG00000020027  36PPWTEDCRKSTYPPSGPTYRGPV
Mmulatta  all identical  ENSMMUG00000015497  52WTEDCRKSTYPPSGPTYRGPA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  36PPWTEDCRKSTYPPSGPTYRGPV
Ggallus  all identical  ENSGALG00000013599  38-PYGEDCRSKMYPPSGPTFKGNV
Trubripes  all identical  ENSTRUG00000016165  42PPYTEECRANMYPPKGPTFNGAV
Drerio  all identical  ENSDARG00000037091  32EDCRSGMYPPKGPTYRGNV
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  33PAPFKDHCILDDKQNLYDPSK---QFDI
Xtropicalis  all identical  ENSXETG00000012463  36PPYTEDCRSGTYPPTGPTFKGNI
protein features
start (aa)end (aa)featuredetails 
122122CONFLICTV -> A (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
155155CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 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 107
cDNA position
(for ins/del: last normal base / first normal base)
419
gDNA position
(for ins/del: last normal base / first normal base)
9427
chromosomal position
(for ins/del: last normal base / first normal base)
17933068
original gDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered gDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
original cDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered cDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
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 CRKSTCPPSG 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*
speed 1.31 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: without_aae, prob: 1      (explain)
Summary
  • known as potential disease variant: rs93 (probable pathogenic)
  • known disease mutation at this position (HGMD CM010154)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17933068T>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 5'UTR
DNA changes cDNA.143A>G
g.9427A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs137853595
Allele 'C' was neither found in ExAC nor 1000G.
known as potential disease variant: rs93 (probable pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0150.998
2.5581
(flanking)2.5581
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -25) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased9437wt: 0.9432 / mu: 0.9519 (marginal change - not scored)wt: AAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACAT
mu: AAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACAT
 ttca|GGAC
Acc marginally increased9438wt: 0.9787 / mu: 0.9800 (marginal change - not scored)wt: AATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACATC
mu: AATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACATC
 tcag|GACC
Acc increased9436wt: 0.34 / mu: 0.38wt: AAAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACA
mu: AAAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACA
 cttc|AGGA
distance from splice site 19
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
121SIGNALPotential.might get lost (downstream of altered splice site)
122122CONFLICTV -> A (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
155155CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 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 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 N/A
cDNA position
(for ins/del: last normal base / first normal base)
143
gDNA position
(for ins/del: last normal base / first normal base)
9427
chromosomal position
(for ins/del: last normal base / first normal base)
17933068
original gDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered gDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
original cDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered cDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
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 N/A
speed 1.38 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
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Problems