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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000352480
Querying Taster for transcript #2: ENST00000372394
Querying Taster for transcript #3: ENST00000372393
Querying Taster for transcript #4: ENST00000334909
MT speed 0 s - this script 4.995285 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ASS1disease_causing_automatic0.999989522843054simple_aaeaffected0R157Hsingle base exchangers121908637show file
ASS1disease_causing_automatic0.999989522843054simple_aaeaffected0R157Hsingle base exchangers121908637show file
ASS1disease_causing_automatic0.999989522843054simple_aaeaffected0R157Hsingle base exchangers121908637show file
ASS1disease_causing_automatic0.999989522843054simple_aaeaffected0R157Hsingle base exchangers121908637show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999989522843054 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900032)
  • known disease mutation: rs6325 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133342161G>AN/A show variant in all transcripts   IGV
HGNC symbol ASS1
Ensembl transcript ID ENST00000352480
Genbank transcript ID NM_054012
UniProt peptide P00966
alteration type single base exchange
alteration region CDS
DNA changes c.470G>A
cDNA.542G>A
g.22068G>A
AA changes R157H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 157
frameshift no
known variant Reference ID: rs121908637
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC01212

known disease mutation: rs6325 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9531
4.7381
(flanking)1.9540.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased22070wt: 0.23 / mu: 0.29wt: GCCGCAATGACCTGA
mu: GCCACAATGACCTGA		 CGCA|atga
Donor gained220640.36mu: TCAAGGGCCACAATG AAGG|gcca
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      157RMPEFYNRFKGRNDLMEYAKQHGI
mutated  not conserved    157RMPEFYNRFKGHNDLMEYAKQHG
Ptroglodytes  all identical  ENSPTRG00000021473  157RMPEFYNRFKGRNDLMEYAKQHG
Mmulatta  not conserved  ENSMMUG00000019199  157RMPEFYNRFKGCNDLMEYAKQHG
Fcatus  not conserved  ENSFCAG00000005111  157XXXXXXXXXXXXXXXXXXXXQHG
Mmusculus  all identical  ENSMUSG00000046687  157RMPEFYNRFKGRNDLMEYAKQHG
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  156RIPEFYNRFKGRKDLMEYAQKHG
Drerio  all identical  ENSDARG00000032564  17RIPEFYNRFRGRKDLMEYAEKHN
Dmelanogaster  all identical  FBgn0026565  156RDVEFCCQFQGRQDLIAYAQQHG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  158RMPEFYNRFRGRSDLMEYAKKHN
protein features
start (aa)end (aa)featuredetails 
158166HELIXmight get lost (downstream of altered splice site)
165165MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
180180BINDINGCitrulline.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
189189BINDINGCitrulline.might get lost (downstream of altered splice site)
193196HELIXmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
213215TURNmight get lost (downstream of altered splice site)
221228STRANDmight get lost (downstream of altered splice site)
231237STRANDmight get lost (downstream of altered splice site)
238240TURNmight get lost (downstream of altered splice site)
247261HELIXmight get lost (downstream of altered splice site)
265271STRANDmight get lost (downstream of altered splice site)
270270BINDINGCitrulline.might get lost (downstream of altered splice site)
277283STRANDmight get lost (downstream of altered splice site)
282282BINDINGCitrulline.might get lost (downstream of altered splice site)
285301HELIXmight get lost (downstream of altered splice site)
304323HELIXmight get lost (downstream of altered splice site)
325327CONFLICTFWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).might get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
329341HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
347354STRANDmight get lost (downstream of altered splice site)
352352MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
357364STRANDmight get lost (downstream of altered splice site)
372375HELIXmight get lost (downstream of altered splice site)
385404HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1239 / 1239
position (AA) of stopcodon in wt / mu AA sequence 413 / 413
position of stopcodon in wt / mu cDNA 1311 / 1311
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 73 / 73
chromosome 9
strand 1
last intron/exon boundary 1266
theoretical NMD boundary in CDS 1143
length of CDS 1239
coding sequence (CDS) position 470
cDNA position
(for ins/del: last normal base / first normal base)		 542
gDNA position
(for ins/del: last normal base / first normal base)		 22068
chromosomal position
(for ins/del: last normal base / first normal base)		 133342161
original gDNA sequence snippet CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG
altered gDNA sequence snippet CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG
original cDNA sequence snippet CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG
altered cDNA sequence snippet CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG
wildtype AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
mutated AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGHNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 0.96 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: 0.999989522843054 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900032)
  • known disease mutation: rs6325 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133342161G>AN/A show variant in all transcripts   IGV
HGNC symbol ASS1
Ensembl transcript ID ENST00000372394
Genbank transcript ID N/A
UniProt peptide P00966
alteration type single base exchange
alteration region CDS
DNA changes c.470G>A
cDNA.951G>A
g.22068G>A
AA changes R157H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 157
frameshift no
known variant Reference ID: rs121908637
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC01212

known disease mutation: rs6325 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9531
4.7381
(flanking)1.9540.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased22070wt: 0.23 / mu: 0.29wt: GCCGCAATGACCTGA
mu: GCCACAATGACCTGA		 CGCA|atga
Donor gained220640.36mu: TCAAGGGCCACAATG AAGG|gcca
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      157RMPEFYNRFKGRNDLMEYAKQHGI
mutated  not conserved    157RMPEFYNRFKGHNDLMEYAKQHG
Ptroglodytes  all identical  ENSPTRG00000021473  157RMPEFYNRFKGRNDLMEYAKQHG
Mmulatta  not conserved  ENSMMUG00000019199  157RMPEFYNRFKGCNDLMEYAKQHG
Fcatus  not conserved  ENSFCAG00000005111  157XXXXXXXXXXXXXXXXXXXXQHG
Mmusculus  all identical  ENSMUSG00000046687  157RMPEFYNRFKGRNDLMEYAKQHG
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  156RIPEFYNRFKGRKDLMEYAQKHG
Drerio  all identical  ENSDARG00000032564  17RIPEFYNRFRGRKDLMEYAEKHN
Dmelanogaster  all identical  FBgn0026565  156RDVEFCCQFQGRQDLIAYAQQHG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  158RMPEFYNRFRGRSDLMEYAKKHN
protein features
start (aa)end (aa)featuredetails 
158166HELIXmight get lost (downstream of altered splice site)
165165MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
180180BINDINGCitrulline.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
189189BINDINGCitrulline.might get lost (downstream of altered splice site)
193196HELIXmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
213215TURNmight get lost (downstream of altered splice site)
221228STRANDmight get lost (downstream of altered splice site)
231237STRANDmight get lost (downstream of altered splice site)
238240TURNmight get lost (downstream of altered splice site)
247261HELIXmight get lost (downstream of altered splice site)
265271STRANDmight get lost (downstream of altered splice site)
270270BINDINGCitrulline.might get lost (downstream of altered splice site)
277283STRANDmight get lost (downstream of altered splice site)
282282BINDINGCitrulline.might get lost (downstream of altered splice site)
285301HELIXmight get lost (downstream of altered splice site)
304323HELIXmight get lost (downstream of altered splice site)
325327CONFLICTFWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).might get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
329341HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
347354STRANDmight get lost (downstream of altered splice site)
352352MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
357364STRANDmight get lost (downstream of altered splice site)
372375HELIXmight get lost (downstream of altered splice site)
385404HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1239 / 1239
position (AA) of stopcodon in wt / mu AA sequence 413 / 413
position of stopcodon in wt / mu cDNA 1720 / 1720
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 482 / 482
chromosome 9
strand 1
last intron/exon boundary 1675
theoretical NMD boundary in CDS 1143
length of CDS 1239
coding sequence (CDS) position 470
cDNA position
(for ins/del: last normal base / first normal base)		 951
gDNA position
(for ins/del: last normal base / first normal base)		 22068
chromosomal position
(for ins/del: last normal base / first normal base)		 133342161
original gDNA sequence snippet CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG
altered gDNA sequence snippet CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG
original cDNA sequence snippet CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG
altered cDNA sequence snippet CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG
wildtype AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
mutated AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGHNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 1.00 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: 0.999989522843054 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900032)
  • known disease mutation: rs6325 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133342161G>AN/A show variant in all transcripts   IGV
HGNC symbol ASS1
Ensembl transcript ID ENST00000372393
Genbank transcript ID N/A
UniProt peptide P00966
alteration type single base exchange
alteration region CDS
DNA changes c.470G>A
cDNA.543G>A
g.22068G>A
AA changes R157H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 157
frameshift no
known variant Reference ID: rs121908637
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC01212

known disease mutation: rs6325 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9531
4.7381
(flanking)1.9540.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased22070wt: 0.23 / mu: 0.29wt: GCCGCAATGACCTGA
mu: GCCACAATGACCTGA		 CGCA|atga
Donor gained220640.36mu: TCAAGGGCCACAATG AAGG|gcca
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      157RMPEFYNRFKGRNDLMEYAKQHGI
mutated  not conserved    157RMPEFYNRFKGHNDLMEYAKQHG
Ptroglodytes  all identical  ENSPTRG00000021473  157RMPEFYNRFKGRNDLMEYAKQHG
Mmulatta  not conserved  ENSMMUG00000019199  157RMPEFYNRFKGCNDLMEYAKQHG
Fcatus  not conserved  ENSFCAG00000005111  157XXXXXXXXXXXXXXXXXXXXQHG
Mmusculus  all identical  ENSMUSG00000046687  157RMPEFYNRFKGRNDLMEYAKQHG
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  156RIPEFYNRFKGRKDLMEYAQKHG
Drerio  all identical  ENSDARG00000032564  17RIPEFYNRFRGRKDLMEYAEKHN
Dmelanogaster  all identical  FBgn0026565  156RDVEFCCQFQGRQDLIAYAQQHG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  158RMPEFYNRFRGRSDLMEYAKKHN
protein features
start (aa)end (aa)featuredetails 
158166HELIXmight get lost (downstream of altered splice site)
165165MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
180180BINDINGCitrulline.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
189189BINDINGCitrulline.might get lost (downstream of altered splice site)
193196HELIXmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
213215TURNmight get lost (downstream of altered splice site)
221228STRANDmight get lost (downstream of altered splice site)
231237STRANDmight get lost (downstream of altered splice site)
238240TURNmight get lost (downstream of altered splice site)
247261HELIXmight get lost (downstream of altered splice site)
265271STRANDmight get lost (downstream of altered splice site)
270270BINDINGCitrulline.might get lost (downstream of altered splice site)
277283STRANDmight get lost (downstream of altered splice site)
282282BINDINGCitrulline.might get lost (downstream of altered splice site)
285301HELIXmight get lost (downstream of altered splice site)
304323HELIXmight get lost (downstream of altered splice site)
325327CONFLICTFWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).might get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
329341HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
347354STRANDmight get lost (downstream of altered splice site)
352352MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
357364STRANDmight get lost (downstream of altered splice site)
372375HELIXmight get lost (downstream of altered splice site)
385404HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1239 / 1239
position (AA) of stopcodon in wt / mu AA sequence 413 / 413
position of stopcodon in wt / mu cDNA 1312 / 1312
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 74 / 74
chromosome 9
strand 1
last intron/exon boundary 1267
theoretical NMD boundary in CDS 1143
length of CDS 1239
coding sequence (CDS) position 470
cDNA position
(for ins/del: last normal base / first normal base)		 543
gDNA position
(for ins/del: last normal base / first normal base)		 22068
chromosomal position
(for ins/del: last normal base / first normal base)		 133342161
original gDNA sequence snippet CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG
altered gDNA sequence snippet CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG
original cDNA sequence snippet CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG
altered cDNA sequence snippet CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG
wildtype AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
mutated AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGHNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 0.94 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999989522843054 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900032)
  • known disease mutation: rs6325 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133342161G>AN/A show variant in all transcripts   IGV
HGNC symbol ASS1
Ensembl transcript ID ENST00000334909
Genbank transcript ID NM_000050
UniProt peptide P00966
alteration type single base exchange
alteration region CDS
DNA changes c.470G>A
cDNA.826G>A
g.22068G>A
AA changes R157H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 157
frameshift no
known variant Reference ID: rs121908637
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC01212

known disease mutation: rs6325 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900032)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9531
4.7381
(flanking)1.9540.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased22070wt: 0.23 / mu: 0.29wt: GCCGCAATGACCTGA
mu: GCCACAATGACCTGA		 CGCA|atga
Donor gained220640.36mu: TCAAGGGCCACAATG AAGG|gcca
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      157RMPEFYNRFKGRNDLMEYAKQHGI
mutated  not conserved    157RMPEFYNRFKGHNDLMEYAKQHG
Ptroglodytes  all identical  ENSPTRG00000021473  157RMPEFYNRFKGRNDLMEYAKQHG
Mmulatta  not conserved  ENSMMUG00000019199  157RMPEFYNRFKGCNDLMEYAKQHG
Fcatus  not conserved  ENSFCAG00000005111  157XXXXXXXXXXXXXXXXXXXXQHG
Mmusculus  all identical  ENSMUSG00000046687  157RMPEFYNRFKGRNDLMEYAKQHG
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  156RIPEFYNRFKGRKDLMEYAQKHG
Drerio  all identical  ENSDARG00000032564  17RIPEFYNRFRGRKDLMEYAEKHN
Dmelanogaster  all identical  FBgn0026565  156RDVEFCCQFQGRQDLIAYAQQHG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  158RMPEFYNRFRGRSDLMEYAKKHN
protein features
start (aa)end (aa)featuredetails 
158166HELIXmight get lost (downstream of altered splice site)
165165MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
180180BINDINGCitrulline.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
188190STRANDmight get lost (downstream of altered splice site)
189189BINDINGCitrulline.might get lost (downstream of altered splice site)
193196HELIXmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
213215TURNmight get lost (downstream of altered splice site)
221228STRANDmight get lost (downstream of altered splice site)
231237STRANDmight get lost (downstream of altered splice site)
238240TURNmight get lost (downstream of altered splice site)
247261HELIXmight get lost (downstream of altered splice site)
265271STRANDmight get lost (downstream of altered splice site)
270270BINDINGCitrulline.might get lost (downstream of altered splice site)
277283STRANDmight get lost (downstream of altered splice site)
282282BINDINGCitrulline.might get lost (downstream of altered splice site)
285301HELIXmight get lost (downstream of altered splice site)
304323HELIXmight get lost (downstream of altered splice site)
325327CONFLICTFWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).might get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
329341HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
347354STRANDmight get lost (downstream of altered splice site)
352352MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
357364STRANDmight get lost (downstream of altered splice site)
372375HELIXmight get lost (downstream of altered splice site)
385404HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1239 / 1239
position (AA) of stopcodon in wt / mu AA sequence 413 / 413
position of stopcodon in wt / mu cDNA 1595 / 1595
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 357 / 357
chromosome 9
strand 1
last intron/exon boundary 1550
theoretical NMD boundary in CDS 1143
length of CDS 1239
coding sequence (CDS) position 470
cDNA position
(for ins/del: last normal base / first normal base)		 826
gDNA position
(for ins/del: last normal base / first normal base)		 22068
chromosomal position
(for ins/del: last normal base / first normal base)		 133342161
original gDNA sequence snippet CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG
altered gDNA sequence snippet CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG
original cDNA sequence snippet CTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACG
altered cDNA sequence snippet CTACAACCGGTTCAAGGGCCACAATGACCTGATGGAGTACG
wildtype AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
mutated AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGHNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 1.00 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems