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 7.96 s - this script 6.5304 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ASAH1disease_causing_automatic0.999980704767841simple_aae0T222Ksingle base exchangers137853593show file
ASAH1disease_causing_automatic0.999980704767841simple_aae0T238Ksingle base exchangers137853593show file
ASAH1disease_causing_automatic0.999980704767841simple_aae0T132Ksingle base exchangers137853593show file
ASAH1disease_causing_automatic0.999980704767841simple_aae0T216Ksingle base exchangers137853593show file
ASAH1disease_causing_automatic0.999980704767841simple_aae0T197Ksingle base exchangers137853593show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999980704767841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM1611827)
  • known disease mutation at this position (HGMD CM962403)
  • known disease mutation: rs91 (pathogenic)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17919233G>TN/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.665C>A
cDNA.977C>A
g.23262C>A
AA changes T222K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS
222
frameshift no
known variant Reference ID: rs137853593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs91 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
regulatory features ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7060.665
5.4180.957
(flanking)1.40.912
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 increased23263wt: 0.2706 / mu: 0.3381 (marginal change - not scored)wt: CTTACACTGAATGAA
mu: CTTAAACTGAATGAA
 TACA|ctga
Donor marginally increased23267wt: 0.2087 / mu: 0.2358 (marginal change - not scored)wt: CACTGAATGAACGTT
mu: AACTGAATGAACGTT
 CTGA|atga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      222LTGFKPGLFSLTLNERFSINGGYL
mutated  not conserved    222LTGFKPGLFSLKLNERFSINGGY
Ptroglodytes  all conserved  ENSPTRG00000020027  222LTGFKPGLFSLSLNERFSINGGY
Mmulatta  all identical  ENSMMUG00000015497  238LTGFKPGLFSLTLNERFSVNGGY
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031591  221LTGFKPGLFSLSLNERFSINGGY
Ggallus  all identical  ENSGALG00000013599  220VSGVKPDLFTLTMNERFSLDGGY
Trubripes  all identical  ENSTRUG00000016165  228LTGIKPHTFTLTMNERFSLDGGY
Drerio  all identical  ENSDARG00000037091  217LTGIRPGELTLTMNERFDFDGGY
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  219YNGLKPNAFSLTADDRFQLVGGY
Xtropicalis  all identical  ENSXETG00000012463  224LTGMKPGVFSLTMNERFSVDGGF
protein features no protein features affected
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 665
cDNA position
(for ins/del: last normal base / first normal base)
977
gDNA position
(for ins/del: last normal base / first normal base)
23262
chromosomal position
(for ins/del: last normal base / first normal base)
17919233
original gDNA sequence snippet TCAGGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered gDNA sequence snippet TCAGGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
original cDNA sequence snippet ACCAGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered cDNA sequence snippet ACCAGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
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 LKLNERFSIN GGYLGILEWI
LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW*
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: 0.999980704767841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM1611827)
  • known disease mutation at this position (HGMD CM962403)
  • known disease mutation: rs91 (pathogenic)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17919233G>TN/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.713C>A
cDNA.880C>A
g.23262C>A
AA changes T238K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS
238
frameshift no
known variant Reference ID: rs137853593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs91 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
regulatory features ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7060.665
5.4180.957
(flanking)1.40.912
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 increased23263wt: 0.2706 / mu: 0.3381 (marginal change - not scored)wt: CTTACACTGAATGAA
mu: CTTAAACTGAATGAA
 TACA|ctga
Donor marginally increased23267wt: 0.2087 / mu: 0.2358 (marginal change - not scored)wt: CACTGAATGAACGTT
mu: AACTGAATGAACGTT
 CTGA|atga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      238LTGFKPGLFSLTLNERFSINGGYL
mutated  not conserved    238LTGFKPGLFSLKLN
Ptroglodytes  all conserved  ENSPTRG00000020027  222LTGFKPGLFSLSLNERFSINGGY
Mmulatta  all identical  ENSMMUG00000015497  238LTGFKPGLFSLTLN
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031591  221LTGFKPGLFSLSLNERFSINGGY
Ggallus  all identical  ENSGALG00000013599  220VSGVKPDLFTLTMNERFSLDGGY
Trubripes  all identical  ENSTRUG00000016165  228LTGIKPHTFTLTMNERFSLDGGY
Drerio  all identical  ENSDARG00000037091  217LTGIRPGELTLTMNERFDFDGGY
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  219YNGLKPNAFSLTADDRFQLVGGY
Xtropicalis  all identical  ENSXETG00000012463  224LTGMKPGVFSLTMNERFSVDGGF
protein features no protein features affected
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 713
cDNA position
(for ins/del: last normal base / first normal base)
880
gDNA position
(for ins/del: last normal base / first normal base)
23262
chromosomal position
(for ins/del: last normal base / first normal base)
17919233
original gDNA sequence snippet TCAGGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered gDNA sequence snippet TCAGGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
original cDNA sequence snippet ACCAGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered cDNA sequence snippet ACCAGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
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 KPGLFSLKLN
ERFSINGGYL GILEWILGKK DVMWIGFLTR TVLENSTSYE EAKNLLTKTK ILAPAYFILG
GNQSGEGCVI TRDRKESLDV YELDAKQGRW YVVQTNYDRW KHPFFLDDRR TPAKMCLNRT
SQENISFETM YDVLSTKPVL NKLTVYTTLI DVTKGQFETY LRDCPDPCIG W*
speed 1.43 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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999980704767841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM1611827)
  • known disease mutation at this position (HGMD CM962403)
  • known disease mutation: rs91 (pathogenic)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17919233G>TN/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.395C>A
cDNA.626C>A
g.23262C>A
AA changes T132K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS
132
frameshift no
known variant Reference ID: rs137853593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs91 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
regulatory features ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7060.665
5.4180.957
(flanking)1.40.912
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 increased23263wt: 0.2706 / mu: 0.3381 (marginal change - not scored)wt: CTTACACTGAATGAA
mu: CTTAAACTGAATGAA
 TACA|ctga
Donor marginally increased23267wt: 0.2087 / mu: 0.2358 (marginal change - not scored)wt: CACTGAATGAACGTT
mu: AACTGAATGAACGTT
 CTGA|atga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      132LTGFKPGLFSLTLNERFSINGGYL
mutated  not conserved    132LTGFKPGLFSLKLNERFSINGGY
Ptroglodytes  all conserved  ENSPTRG00000020027  222LTGFKPGLFSLSLNERFSINGGY
Mmulatta  all identical  ENSMMUG00000015497  238LTGFKPGLFSLTLNERFSVNGGY
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031591  221LTGFKPGLFSLSLNERFSINGGY
Ggallus  all identical  ENSGALG00000013599  220VSGVKPDLFTLTMNERFSLDGGY
Trubripes  all identical  ENSTRUG00000016165  228LTGIKPHTFTLTMNERFSLDGGY
Drerio  all identical  ENSDARG00000037091  217LTGIRPGELTLTMNERFDFDGGY
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  219YNGLKPNAFSLTADDRFQLVGGY
Xtropicalis  all identical  ENSXETG00000012463  224LTGMKPGVFSLTMNERFSVDGGF
protein features no protein features affected
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 395
cDNA position
(for ins/del: last normal base / first normal base)
626
gDNA position
(for ins/del: last normal base / first normal base)
23262
chromosomal position
(for ins/del: last normal base / first normal base)
17919233
original gDNA sequence snippet TCAGGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered gDNA sequence snippet TCAGGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
original cDNA sequence snippet ACCAGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered cDNA sequence snippet ACCAGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
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 LKLNERFSIN GGYLGILEWI LGKKDVMWIG FLTRTVLENS TSYEEAKNLL
TKTKILAPAY FILGGNQSGE GCVITRDRKE SLDVYELDAK QGRWYVVQTN YDRWKHPFFL
DDRRTPAKMC LNRTSQENIS FETMYDVLST KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD
PCIGW*
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: 0.999980704767841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM1611827)
  • known disease mutation at this position (HGMD CM962403)
  • known disease mutation: rs91 (pathogenic)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17919233G>TN/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.647C>A
cDNA.831C>A
g.23262C>A
AA changes T216K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS
216
frameshift no
known variant Reference ID: rs137853593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs91 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
regulatory features ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7060.665
5.4180.957
(flanking)1.40.912
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 increased23263wt: 0.2706 / mu: 0.3381 (marginal change - not scored)wt: CTTACACTGAATGAA
mu: CTTAAACTGAATGAA
 TACA|ctga
Donor marginally increased23267wt: 0.2087 / mu: 0.2358 (marginal change - not scored)wt: CACTGAATGAACGTT
mu: AACTGAATGAACGTT
 CTGA|atga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      216LTGFKPGLFSLTLNERFSINGGYL
mutated  not conserved    216LTGFKPGLFSLKLNERFSINGGY
Ptroglodytes  all conserved  ENSPTRG00000020027  222LTGFKPGLFSLSLNERFSINGGY
Mmulatta  all identical  ENSMMUG00000015497  238LFSLTLNERFSVNGGY
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031591  221LTGFKPGLFSLSLNERFSINGGY
Ggallus  all identical  ENSGALG00000013599  220VSGVKPDLFTLTMNERFSLDGGY
Trubripes  all identical  ENSTRUG00000016165  228LTGIKPHTFTLTMNERFSLDGG
Drerio  all identical  ENSDARG00000037091  217LTGIRPGELTLTMNERFDFDGGY
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  219YNGLKPNAFSLTADDRFQ
Xtropicalis  all identical  ENSXETG00000012463  224LTGMKPGVFSLTMNERFSVDGGF
protein features no protein features affected
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 647
cDNA position
(for ins/del: last normal base / first normal base)
831
gDNA position
(for ins/del: last normal base / first normal base)
23262
chromosomal position
(for ins/del: last normal base / first normal base)
17919233
original gDNA sequence snippet TCAGGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered gDNA sequence snippet TCAGGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
original cDNA sequence snippet ACCAGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered cDNA sequence snippet ACCAGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
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 GLFSLKLNER FSINGGYLGI LEWILGKKDV
MWIGFLTRTV LENSTSYEEA KNLLTKTKIL APAYFILGGN QSGEGCVITR DRKESLDVYE
LDAKQGRWYV VQTNYDRWKH PFFLDDRRTP AKMCLNRTSQ ENISFETMYD VLSTKPVLNK
LTVYTTLIDV TKGQFETYLR DCPDPCIGW*
speed 1.55 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: 0.999980704767841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM1611827)
  • known disease mutation at this position (HGMD CM962403)
  • known disease mutation: rs91 (pathogenic)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17919233G>TN/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.590C>A
cDNA.902C>A
g.23262C>A
AA changes T197K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS
197
frameshift no
known variant Reference ID: rs137853593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs91 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
regulatory features ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7060.665
5.4180.957
(flanking)1.40.912
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 increased23263wt: 0.2706 / mu: 0.3381 (marginal change - not scored)wt: CTTACACTGAATGAA
mu: CTTAAACTGAATGAA
 TACA|ctga
Donor marginally increased23267wt: 0.2087 / mu: 0.2358 (marginal change - not scored)wt: CACTGAATGAACGTT
mu: AACTGAATGAACGTT
 CTGA|atga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      197LTGFKPGLFSLTLNERFSINGGYL
mutated  not conserved    197LTGFKPGLFSLKLNERFSINGGY
Ptroglodytes  all conserved  ENSPTRG00000020027  222LTGFKPGLFSLSLNERFSINGGY
Mmulatta  all identical  ENSMMUG00000015497  238LTGFKPGLFSLTLNERFSVNGGY
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031591  221LTGFKPGLFSLSLNERFSINGGY
Ggallus  all identical  ENSGALG00000013599  220VSGVKPDLFTLTMNERFSLDGGY
Trubripes  all identical  ENSTRUG00000016165  228LTGIKPHTFTLTMNERFSLDGGY
Drerio  all identical  ENSDARG00000037091  217LTGIRPGELTLTMNERFDFDGGY
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  219YNGLKPNAFSLTADDRFQLVGGY
Xtropicalis  all identical  ENSXETG00000012463  224LTGMKPGVFSLTMNERFSVDGGF
protein features no protein features affected
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 590
cDNA position
(for ins/del: last normal base / first normal base)
902
gDNA position
(for ins/del: last normal base / first normal base)
23262
chromosomal position
(for ins/del: last normal base / first normal base)
17919233
original gDNA sequence snippet TCAGGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered gDNA sequence snippet TCAGGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
original cDNA sequence snippet ACCAGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered cDNA sequence snippet ACCAGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
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 PGLFSLKLNE RFSINGGYLG ILEWILGKKD VMWIGFLTRT VLENSTSYEE
AKNLLTKTKI LAPAYFILGG NQSGEGCVIT RDRKESLDVY ELDAKQGRWY VVQTNYDRWK
HPFFLDDRRT PAKMCLNRTS QENISFETMY DVLSTKPVLN KLTVYTTLID VTKGQFETYL
RDCPDPCIGW *
speed 1.94 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