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 5.113839 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ASS1disease_causing_automatic0.999999844539181simple_aae0R363Wsingle base exchangers121908640show file
ASS1disease_causing_automatic0.999999844539181simple_aae0R363Wsingle base exchangers121908640show file
ASS1disease_causing_automatic0.999999844539181simple_aae0R363Wsingle base exchangers121908640show file
ASS1disease_causing_automatic0.999999844539181simple_aae0R363Wsingle base exchangers121908640show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999844539181 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031631)
  • known disease mutation at this position (HGMD CM900036)
  • known disease mutation: rs6328 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133370370C>TN/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.1087C>T
cDNA.1159C>T
g.50277C>T
AA changes R363W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 363
frameshift no
known variant Reference ID: rs121908640
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6328 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.811
1.8161
(flanking)4.9231
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      363SVLKGQVYILGRESPLSLYNEELV
mutated  not conserved    363LGWESPLSLYNEEL
Ptroglodytes  all identical  ENSPTRG00000021473  363LGRESPLSLYNEEL
Mmulatta  all identical  ENSMMUG00000019199  363LSRESPLSLYNEEL
Fcatus  no alignment  ENSFCAG00000005111  n/a
Mmusculus  all identical  ENSMUSG00000046687  363LGRESPLSLYNEEL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  362RESPKSLYNEEL
Drerio  all identical  ENSDARG00000032564  223SVYKGQVYILGRESPKSLYNEEL
Dmelanogaster  all identical  FBgn0026565  363RKAAKDVGALYNEQL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  365GREAPHSLYNEEL
protein features
start (aa)end (aa)featuredetails 
357364STRANDlost
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 1087
cDNA position
(for ins/del: last normal base / first normal base)		 1159
gDNA position
(for ins/del: last normal base / first normal base)		 50277
chromosomal position
(for ins/del: last normal base / first normal base)		 133370370
original gDNA sequence snippet GCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTC
altered gDNA sequence snippet GCCAGGTGTACATCCTCGGCTGGGAGTCCCCACTGTCTCTC
original cDNA sequence snippet GCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTC
altered cDNA sequence snippet GCCAGGTGTACATCCTCGGCTGGGAGTCCCCACTGTCTCTC
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 YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGWESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 1.10 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: 0.999999844539181 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031631)
  • known disease mutation at this position (HGMD CM900036)
  • known disease mutation: rs6328 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133370370C>TN/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.1087C>T
cDNA.1568C>T
g.50277C>T
AA changes R363W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 363
frameshift no
known variant Reference ID: rs121908640
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6328 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.811
1.8161
(flanking)4.9231
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      363SVLKGQVYILGRESPLSLYNEELV
mutated  not conserved    363LGWESPLSLYNEEL
Ptroglodytes  all identical  ENSPTRG00000021473  363LGRESPLSLYNEEL
Mmulatta  all identical  ENSMMUG00000019199  363LSRESPLSLYNEEL
Fcatus  no alignment  ENSFCAG00000005111  n/a
Mmusculus  all identical  ENSMUSG00000046687  363LGRESPLSLYNEEL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  362RESPKSLYNEEL
Drerio  all identical  ENSDARG00000032564  223SVYKGQVYILGRESPKSLYNEEL
Dmelanogaster  all identical  FBgn0026565  363RKAAKDVGALYNEQL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  365GREAPHSLYNEEL
protein features
start (aa)end (aa)featuredetails 
357364STRANDlost
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 1087
cDNA position
(for ins/del: last normal base / first normal base)		 1568
gDNA position
(for ins/del: last normal base / first normal base)		 50277
chromosomal position
(for ins/del: last normal base / first normal base)		 133370370
original gDNA sequence snippet GCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTC
altered gDNA sequence snippet GCCAGGTGTACATCCTCGGCTGGGAGTCCCCACTGTCTCTC
original cDNA sequence snippet GCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTC
altered cDNA sequence snippet GCCAGGTGTACATCCTCGGCTGGGAGTCCCCACTGTCTCTC
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 YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGWESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 1.27 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: 0.999999844539181 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031631)
  • known disease mutation at this position (HGMD CM900036)
  • known disease mutation: rs6328 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133370370C>TN/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.1087C>T
cDNA.1160C>T
g.50277C>T
AA changes R363W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 363
frameshift no
known variant Reference ID: rs121908640
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6328 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.811
1.8161
(flanking)4.9231
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      363SVLKGQVYILGRESPLSLYNEELV
mutated  not conserved    363LGWESPLSLYNEEL
Ptroglodytes  all identical  ENSPTRG00000021473  363LGRESPLSLYNEEL
Mmulatta  all identical  ENSMMUG00000019199  363LSRESPLSLYNEEL
Fcatus  no alignment  ENSFCAG00000005111  n/a
Mmusculus  all identical  ENSMUSG00000046687  363LGRESPLSLYNEEL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  362RESPKSLYNEEL
Drerio  all identical  ENSDARG00000032564  223SVYKGQVYILGRESPKSLYNEEL
Dmelanogaster  all identical  FBgn0026565  363RKAAKDVGALYNEQL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  365GREAPHSLYNEEL
protein features
start (aa)end (aa)featuredetails 
357364STRANDlost
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 1087
cDNA position
(for ins/del: last normal base / first normal base)		 1160
gDNA position
(for ins/del: last normal base / first normal base)		 50277
chromosomal position
(for ins/del: last normal base / first normal base)		 133370370
original gDNA sequence snippet GCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTC
altered gDNA sequence snippet GCCAGGTGTACATCCTCGGCTGGGAGTCCCCACTGTCTCTC
original cDNA sequence snippet GCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTC
altered cDNA sequence snippet GCCAGGTGTACATCCTCGGCTGGGAGTCCCCACTGTCTCTC
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 YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGWESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 1.12 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: 0.999999844539181 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031631)
  • known disease mutation at this position (HGMD CM900036)
  • known disease mutation: rs6328 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133370370C>TN/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.1087C>T
cDNA.1443C>T
g.50277C>T
AA changes R363W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 363
frameshift no
known variant Reference ID: rs121908640
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6328 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031631)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900036)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.811
1.8161
(flanking)4.9231
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      363SVLKGQVYILGRESPLSLYNEELV
mutated  not conserved    363LGWESPLSLYNEEL
Ptroglodytes  all identical  ENSPTRG00000021473  363LGRESPLSLYNEEL
Mmulatta  all identical  ENSMMUG00000019199  363LSRESPLSLYNEEL
Fcatus  no alignment  ENSFCAG00000005111  n/a
Mmusculus  all identical  ENSMUSG00000046687  363LGRESPLSLYNEEL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  362RESPKSLYNEEL
Drerio  all identical  ENSDARG00000032564  223SVYKGQVYILGRESPKSLYNEEL
Dmelanogaster  all identical  FBgn0026565  363RKAAKDVGALYNEQL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  365GREAPHSLYNEEL
protein features
start (aa)end (aa)featuredetails 
357364STRANDlost
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 1087
cDNA position
(for ins/del: last normal base / first normal base)		 1443
gDNA position
(for ins/del: last normal base / first normal base)		 50277
chromosomal position
(for ins/del: last normal base / first normal base)		 133370370
original gDNA sequence snippet GCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTC
altered gDNA sequence snippet GCCAGGTGTACATCCTCGGCTGGGAGTCCCCACTGTCTCTC
original cDNA sequence snippet GCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTC
altered cDNA sequence snippet GCCAGGTGTACATCCTCGGCTGGGAGTCCCCACTGTCTCTC
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 YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGWESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 0.66 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