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: ENST00000304874
Querying Taster for transcript #2: ENST00000380839
Querying Taster for transcript #3: ENST00000395332
Querying Taster for transcript #4: ENST00000395331
MT speed 0 s - this script 4.17161 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ASLdisease_causing_automatic0.99999998104623simple_aaeaffected0V178Msingle base exchangers28941473show file
ASLdisease_causing_automatic0.99999998104623simple_aaeaffected0V178Msingle base exchangers28941473show file
ASLdisease_causing_automatic0.99999998104623simple_aaeaffected0V178Msingle base exchangers28941473show file
ASLdisease_causing_automatic1without_aaeaffected0single base exchangers28941473show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999998104623 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM022196)
  • known disease mutation: rs2402 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:65551738G>AN/A show variant in all transcripts   IGV
HGNC symbol ASL
Ensembl transcript ID ENST00000304874
Genbank transcript ID NM_000048
UniProt peptide P04424
alteration type single base exchange
alteration region CDS
DNA changes c.532G>A
cDNA.634G>A
g.10954G>A
AA changes V178M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 178
frameshift no
known variant Reference ID: rs28941473
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC03535

known disease mutation: rs2402 (pathogenic for Argininosuccinate lyase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)

known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.910.003
3.9250.998
(flanking)4.5671
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 decreased10946wt: 0.8780 / mu: 0.8211 (marginal change - not scored)wt: CCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCC
mu: CCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACCC		 acag|CCAC
Acc marginally increased10944wt: 0.8879 / mu: 0.9118 (marginal change - not scored)wt: CTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGAC
mu: CTCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGAC		 ccac|AGCC
Acc increased10945wt: 0.34 / mu: 0.40wt: TCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACC
mu: TCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACC		 caca|GCCA
Donor increased10950wt: 0.72 / mu: 0.98wt: AGCCACGCCGTGGCA
mu: AGCCACGCCATGGCA		 CCAC|gccg
Donor marginally increased10945wt: 0.9979 / mu: 0.9982 (marginal change - not scored)wt: CCCACAGCCACGCCG
mu: CCCACAGCCACGCCA		 CACA|gcca
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      178IRWSHWILSHAVALTRDSERLLEV
mutated  all conserved    178IRWSHWILSHAMAL
Ptroglodytes  all identical  ENSPTRG00000019245  178IRWSHWILSHAVAL
Mmulatta  all identical  ENSMMUG00000011871  177IRWSHWILSHAVALTRD
Fcatus  all identical  ENSFCAG00000006929  263IRWSHWILSHAVAL
Mmusculus  all identical  ENSMUSG00000025533  178IRWSHWILSHAVAL
Ggallus  all identical  ENSGALG00000002576  193IRWSQFLLSHAVALIRDSER
Trubripes  all identical  ENSTRUG00000012953  179IRWSHWILSHAVALS
Drerio  all identical  ENSDARG00000033361  179IRWSHWLLSHVVAIS
Dmelanogaster  not conserved  FBgn0032076  181VQFSHWLLSHAFALREDGQR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000846  178VYFLH---SHAV
protein features
start (aa)end (aa)featuredetails 
169194HELIXlost
195197STRANDmight get lost (downstream of altered splice site)
202205TURNmight get lost (downstream of altered splice site)
213219HELIXmight get lost (downstream of altered splice site)
223225STRANDmight get lost (downstream of altered splice site)
229232HELIXmight get lost (downstream of altered splice site)
237264HELIXmight get lost (downstream of altered splice site)
246246CONFLICTA -> R (in Ref. 1; CAA68722, 2; AAA51786, 3; AAA51787, 4; AAA51788 and 5; AAL57276).might get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
288288MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
288288MUTAGENK->R: Refractory to inhibition by TSA and NAM and by addition of extra amino acids. No effect on protein structure.might get lost (downstream of altered splice site)
291314HELIXmight get lost (downstream of altered splice site)
323327HELIXmight get lost (downstream of altered splice site)
328352HELIXmight get lost (downstream of altered splice site)
357362HELIXmight get lost (downstream of altered splice site)
366369HELIXmight get lost (downstream of altered splice site)
370379HELIXmight get lost (downstream of altered splice site)
384400HELIXmight get lost (downstream of altered splice site)
405407HELIXmight get lost (downstream of altered splice site)
410414HELIXmight get lost (downstream of altered splice site)
423428HELIXmight get lost (downstream of altered splice site)
430434HELIXmight get lost (downstream of altered splice site)
431431CONFLICTG -> R (in Ref. 1; CAA68722).might get lost (downstream of altered splice site)
442444STRANDmight get lost (downstream of altered splice site)
445463HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1497 / 1497
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 103 / 103
chromosome 7
strand 1
last intron/exon boundary 1353
theoretical NMD boundary in CDS 1200
length of CDS 1395
coding sequence (CDS) position 532
cDNA position
(for ins/del: last normal base / first normal base)		 634
gDNA position
(for ins/del: last normal base / first normal base)		 10954
chromosomal position
(for ins/del: last normal base / first normal base)		 65551738
original gDNA sequence snippet TGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCT
altered gDNA sequence snippet TGGCTTCCCACAGCCACGCCATGGCACTGACCCGAGACTCT
original cDNA sequence snippet ACTGGATTCTGAGCCACGCCGTGGCACTGACCCGAGACTCT
altered cDNA sequence snippet ACTGGATTCTGAGCCACGCCATGGCACTGACCCGAGACTCT
wildtype AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAVAL
TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA
EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA
GRVFGRCAGL LMTLKGLPST YNKDLQEDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM
GQALSPDMLA TDLAYYLVRK GMPFRQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF
SGDVICVWDY GHSVEQYGAL GGTARSSVDW QIRQVRALLQ AQQA*
mutated AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAMAL
TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA
EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA
GRVFGRCAGL LMTLKGLPST YNKDLQEDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM
GQALSPDMLA TDLAYYLVRK GMPFRQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF
SGDVICVWDY GHSVEQYGAL GGTARSSVDW QIRQVRALLQ AQQA*
speed 0.85 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: 0.99999998104623 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM022196)
  • known disease mutation: rs2402 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:65551738G>AN/A show variant in all transcripts   IGV
HGNC symbol ASL
Ensembl transcript ID ENST00000395332
Genbank transcript ID N/A
UniProt peptide P04424
alteration type single base exchange
alteration region CDS
DNA changes c.532G>A
cDNA.740G>A
g.10954G>A
AA changes V178M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 178
frameshift no
known variant Reference ID: rs28941473
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC03535

known disease mutation: rs2402 (pathogenic for Argininosuccinate lyase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)

known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.910.003
3.9250.998
(flanking)4.5671
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 decreased10946wt: 0.8780 / mu: 0.8211 (marginal change - not scored)wt: CCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCC
mu: CCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACCC		 acag|CCAC
Acc marginally increased10944wt: 0.8879 / mu: 0.9118 (marginal change - not scored)wt: CTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGAC
mu: CTCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGAC		 ccac|AGCC
Acc increased10945wt: 0.34 / mu: 0.40wt: TCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACC
mu: TCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACC		 caca|GCCA
Donor increased10950wt: 0.72 / mu: 0.98wt: AGCCACGCCGTGGCA
mu: AGCCACGCCATGGCA		 CCAC|gccg
Donor marginally increased10945wt: 0.9979 / mu: 0.9982 (marginal change - not scored)wt: CCCACAGCCACGCCG
mu: CCCACAGCCACGCCA		 CACA|gcca
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      178IRWSHWILSHAVALTRDSERLLEV
mutated  all conserved    178IRWSHWILSHAMAL
Ptroglodytes  all identical  ENSPTRG00000019245  178IRWSHWILSHAVAL
Mmulatta  all identical  ENSMMUG00000011871  177IRWSHWILSHAVALTRD
Fcatus  all identical  ENSFCAG00000006929  263IRWSHWILSHAVAL
Mmusculus  all identical  ENSMUSG00000025533  178IRWSHWILSHAVAL
Ggallus  all identical  ENSGALG00000002576  193IRWSQFLLSHAVALIRDSER
Trubripes  all identical  ENSTRUG00000012953  179IRWSHWILSHAVALS
Drerio  all identical  ENSDARG00000033361  179IRWSHWLLSHVVAIS
Dmelanogaster  not conserved  FBgn0032076  181VQFSHWLLSHAFALREDGQR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000846  178VYFLH---SHAV
protein features
start (aa)end (aa)featuredetails 
169194HELIXlost
195197STRANDmight get lost (downstream of altered splice site)
202205TURNmight get lost (downstream of altered splice site)
213219HELIXmight get lost (downstream of altered splice site)
223225STRANDmight get lost (downstream of altered splice site)
229232HELIXmight get lost (downstream of altered splice site)
237264HELIXmight get lost (downstream of altered splice site)
246246CONFLICTA -> R (in Ref. 1; CAA68722, 2; AAA51786, 3; AAA51787, 4; AAA51788 and 5; AAL57276).might get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
288288MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
288288MUTAGENK->R: Refractory to inhibition by TSA and NAM and by addition of extra amino acids. No effect on protein structure.might get lost (downstream of altered splice site)
291314HELIXmight get lost (downstream of altered splice site)
323327HELIXmight get lost (downstream of altered splice site)
328352HELIXmight get lost (downstream of altered splice site)
357362HELIXmight get lost (downstream of altered splice site)
366369HELIXmight get lost (downstream of altered splice site)
370379HELIXmight get lost (downstream of altered splice site)
384400HELIXmight get lost (downstream of altered splice site)
405407HELIXmight get lost (downstream of altered splice site)
410414HELIXmight get lost (downstream of altered splice site)
423428HELIXmight get lost (downstream of altered splice site)
430434HELIXmight get lost (downstream of altered splice site)
431431CONFLICTG -> R (in Ref. 1; CAA68722).might get lost (downstream of altered splice site)
442444STRANDmight get lost (downstream of altered splice site)
445463HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1603 / 1603
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 209 / 209
chromosome 7
strand 1
last intron/exon boundary 1459
theoretical NMD boundary in CDS 1200
length of CDS 1395
coding sequence (CDS) position 532
cDNA position
(for ins/del: last normal base / first normal base)		 740
gDNA position
(for ins/del: last normal base / first normal base)		 10954
chromosomal position
(for ins/del: last normal base / first normal base)		 65551738
original gDNA sequence snippet TGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCT
altered gDNA sequence snippet TGGCTTCCCACAGCCACGCCATGGCACTGACCCGAGACTCT
original cDNA sequence snippet ACTGGATTCTGAGCCACGCCGTGGCACTGACCCGAGACTCT
altered cDNA sequence snippet ACTGGATTCTGAGCCACGCCATGGCACTGACCCGAGACTCT
wildtype AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAVAL
TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA
EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA
GRVFGRCAGL LMTLKGLPST YNKDLQEDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM
GQALSPDMLA TDLAYYLVRK GMPFRQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF
SGDVICVWDY GHSVEQYGAL GGTARSSVDW QIRQVRALLQ AQQA*
mutated AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAMAL
TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA
EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA
GRVFGRCAGL LMTLKGLPST YNKDLQEDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM
GQALSPDMLA TDLAYYLVRK GMPFRQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF
SGDVICVWDY GHSVEQYGAL GGTARSSVDW QIRQVRALLQ AQQA*
speed 0.41 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: 0.99999998104623 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM022196)
  • known disease mutation: rs2402 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:65551738G>AN/A show variant in all transcripts   IGV
HGNC symbol ASL
Ensembl transcript ID ENST00000395331
Genbank transcript ID NM_001024944
UniProt peptide P04424
alteration type single base exchange
alteration region CDS
DNA changes c.532G>A
cDNA.730G>A
g.10954G>A
AA changes V178M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 178
frameshift no
known variant Reference ID: rs28941473
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC03535

known disease mutation: rs2402 (pathogenic for Argininosuccinate lyase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)

known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.910.003
3.9250.998
(flanking)4.5671
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 decreased10946wt: 0.8780 / mu: 0.8211 (marginal change - not scored)wt: CCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCC
mu: CCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACCC		 acag|CCAC
Acc marginally increased10944wt: 0.8879 / mu: 0.9118 (marginal change - not scored)wt: CTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGAC
mu: CTCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGAC		 ccac|AGCC
Acc increased10945wt: 0.34 / mu: 0.40wt: TCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACC
mu: TCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACC		 caca|GCCA
Donor increased10950wt: 0.72 / mu: 0.98wt: AGCCACGCCGTGGCA
mu: AGCCACGCCATGGCA		 CCAC|gccg
Donor marginally increased10945wt: 0.9979 / mu: 0.9982 (marginal change - not scored)wt: CCCACAGCCACGCCG
mu: CCCACAGCCACGCCA		 CACA|gcca
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      178IRWSHWILSHAVALTRDSERLLEV
mutated  all conserved    178IRWSHWILSHAMAL
Ptroglodytes  all identical  ENSPTRG00000019245  178IRWSHWILSHAVAL
Mmulatta  all identical  ENSMMUG00000011871  177IRWSHWILSHAVALTRD
Fcatus  all identical  ENSFCAG00000006929  263IRWSHWILSHAVAL
Mmusculus  all identical  ENSMUSG00000025533  178IRWSHWILSHAVAL
Ggallus  all identical  ENSGALG00000002576  193IRWSQFLLSHAVALIRDSER
Trubripes  all identical  ENSTRUG00000012953  179IRWSHWILSHAVALS
Drerio  all identical  ENSDARG00000033361  179IRWSHWLLSHVVAIS
Dmelanogaster  not conserved  FBgn0032076  181VQFSHWLLSHAFALREDGQR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000846  178VYFLH---SHAV
protein features
start (aa)end (aa)featuredetails 
169194HELIXlost
195197STRANDmight get lost (downstream of altered splice site)
202205TURNmight get lost (downstream of altered splice site)
213219HELIXmight get lost (downstream of altered splice site)
223225STRANDmight get lost (downstream of altered splice site)
229232HELIXmight get lost (downstream of altered splice site)
237264HELIXmight get lost (downstream of altered splice site)
246246CONFLICTA -> R (in Ref. 1; CAA68722, 2; AAA51786, 3; AAA51787, 4; AAA51788 and 5; AAL57276).might get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
288288MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
288288MUTAGENK->R: Refractory to inhibition by TSA and NAM and by addition of extra amino acids. No effect on protein structure.might get lost (downstream of altered splice site)
291314HELIXmight get lost (downstream of altered splice site)
323327HELIXmight get lost (downstream of altered splice site)
328352HELIXmight get lost (downstream of altered splice site)
357362HELIXmight get lost (downstream of altered splice site)
366369HELIXmight get lost (downstream of altered splice site)
370379HELIXmight get lost (downstream of altered splice site)
384400HELIXmight get lost (downstream of altered splice site)
405407HELIXmight get lost (downstream of altered splice site)
410414HELIXmight get lost (downstream of altered splice site)
423428HELIXmight get lost (downstream of altered splice site)
430434HELIXmight get lost (downstream of altered splice site)
431431CONFLICTG -> R (in Ref. 1; CAA68722).might get lost (downstream of altered splice site)
442444STRANDmight get lost (downstream of altered splice site)
445463HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1335 / 1335
position (AA) of stopcodon in wt / mu AA sequence 445 / 445
position of stopcodon in wt / mu cDNA 1533 / 1533
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 199 / 199
chromosome 7
strand 1
last intron/exon boundary 1389
theoretical NMD boundary in CDS 1140
length of CDS 1335
coding sequence (CDS) position 532
cDNA position
(for ins/del: last normal base / first normal base)		 730
gDNA position
(for ins/del: last normal base / first normal base)		 10954
chromosomal position
(for ins/del: last normal base / first normal base)		 65551738
original gDNA sequence snippet TGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCT
altered gDNA sequence snippet TGGCTTCCCACAGCCACGCCATGGCACTGACCCGAGACTCT
original cDNA sequence snippet ACTGGATTCTGAGCCACGCCGTGGCACTGACCCGAGACTCT
altered cDNA sequence snippet ACTGGATTCTGAGCCACGCCATGGCACTGACCCGAGACTCT
wildtype AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAVAL
TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA
EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA
GRVFGREDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM GQALSPDMLA TDLAYYLVRK
GMPFRQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF SGDVICVWDY GHSVEQYGAL
GGTARSSVDW QIRQVRALLQ AQQA*
mutated AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAMAL
TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA
EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA
GRVFGREDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM GQALSPDMLA TDLAYYLVRK
GMPFRQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF SGDVICVWDY GHSVEQYGAL
GGTARSSVDW QIRQVRALLQ AQQA*
speed 0.86 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 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM022196)
  • known disease mutation: rs2402 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:65551738G>AN/A show variant in all transcripts   IGV
HGNC symbol ASL
Ensembl transcript ID ENST00000380839
Genbank transcript ID NM_001024946
UniProt peptide P04424
alteration type single base exchange
alteration region intron
DNA changes g.10954G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs28941473
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC03535

known disease mutation: rs2402 (pathogenic for Argininosuccinate lyase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)

known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.910.003
3.9250.998
(flanking)4.5671
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 increased10944wt: 0.8879 / mu: 0.9118 (marginal change - not scored)wt: CTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGAC
mu: CTCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGAC		 ccac|AGCC
Acc increased10945wt: 0.34 / mu: 0.40wt: TCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACC
mu: TCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACC		 caca|GCCA
Donor increased10950wt: 0.72 / mu: 0.98wt: AGCCACGCCGTGGCA
mu: AGCCACGCCATGGCA		 CCAC|gccg
Donor marginally increased10945wt: 0.9979 / mu: 0.9982 (marginal change - not scored)wt: CCCACAGCCACGCCG
mu: CCCACAGCCACGCCA		 CACA|gcca
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
169194HELIXmight get lost (downstream of altered splice site)
195197STRANDmight get lost (downstream of altered splice site)
202205TURNmight get lost (downstream of altered splice site)
213219HELIXmight get lost (downstream of altered splice site)
223225STRANDmight get lost (downstream of altered splice site)
229232HELIXmight get lost (downstream of altered splice site)
237264HELIXmight get lost (downstream of altered splice site)
246246CONFLICTA -> R (in Ref. 1; CAA68722, 2; AAA51786, 3; AAA51787, 4; AAA51788 and 5; AAL57276).might get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
288288MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
288288MUTAGENK->R: Refractory to inhibition by TSA and NAM and by addition of extra amino acids. No effect on protein structure.might get lost (downstream of altered splice site)
291314HELIXmight get lost (downstream of altered splice site)
323327HELIXmight get lost (downstream of altered splice site)
328352HELIXmight get lost (downstream of altered splice site)
357362HELIXmight get lost (downstream of altered splice site)
366369HELIXmight get lost (downstream of altered splice site)
370379HELIXmight get lost (downstream of altered splice site)
384400HELIXmight get lost (downstream of altered splice site)
405407HELIXmight get lost (downstream of altered splice site)
410414HELIXmight get lost (downstream of altered splice site)
423428HELIXmight get lost (downstream of altered splice site)
430434HELIXmight get lost (downstream of altered splice site)
431431CONFLICTG -> R (in Ref. 1; CAA68722).might get lost (downstream of altered splice site)
442444STRANDmight get lost (downstream of altered splice site)
445463HELIXmight 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 217 / 217
chromosome 7
strand 1
last intron/exon boundary 1389
theoretical NMD boundary in CDS 1122
length of CDS 1317
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 10954
chromosomal position
(for ins/del: last normal base / first normal base)		 65551738
original gDNA sequence snippet TGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCT
altered gDNA sequence snippet TGGCTTCCCACAGCCACGCCATGGCACTGACCCGAGACTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSGAIAG
NPLGVDRELL RAELNFGAIT LNSMDATSER DFVAEFLFWA SLCMTHLSRM AEDLILYCTK
EFSFVQLSDA YSTGSSLMPQ KKNPDSLELI RSKAGRVFGR CAGLLMTLKG LPSTYNKDLQ
EDKEAVFEVS DTMSAVLQVA TGVISTLQIH QENMGQALSP DMLATDLAYY LVRKGMPFRQ
AHEASGKAVF MAETKGVALN QLSLQELQTI SPLFSGDVIC VWDYGHSVEQ YGALGGTARS
SVDWQIRQVR ALLQAQQA*
mutated AA sequence N/A
speed 0.48 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