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: ENST00000350842
Querying Taster for transcript #2: ENST00000569554
Querying Taster for transcript #3: ENST00000314752
Querying Taster for transcript #4: ENST00000395609
Querying Taster for transcript #5: ENST00000395607
MT speed 6.64 s - this script 9.311606 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SULT1A1polymorphism_automatic0.000286434503324995simple_aaeR213Hsingle base exchangers9282861show file
SULT1A1polymorphism_automatic0.000286434503324995simple_aaeR213Hsingle base exchangers9282861show file
SULT1A1polymorphism_automatic0.000286434503324995simple_aaeR213Hsingle base exchangers9282861show file
SULT1A1polymorphism_automatic0.000286434503324995simple_aaeR213Hsingle base exchangers9282861show file
SULT1A1polymorphism_automatic0.00174313204184795simple_aaeR135Hsingle base exchangers9282861show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999713565496675 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM973382)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:28617514C>TN/A show variant in all transcripts   IGV
HGNC symbol SULT1A1
Ensembl transcript ID ENST00000569554
Genbank transcript ID NM_177534
UniProt peptide P50225
alteration type single base exchange
alteration region CDS
DNA changes c.638G>A
cDNA.703G>A
g.17433G>A
AA changes R213H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
213
frameshift no
known variant Reference ID: rs9282861
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC36901723420924

known disease mutation at this position, please check HGMD for details (HGMD ID CM973382)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1280.938
0.9450.934
(flanking)0.1840.916
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 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      213REIQKILEFVGRSLPEETVDFVVQ
mutated  not conserved    213REIQKILEFVGHSLPEETVDFVV
Ptroglodytes  all identical  ENSPTRG00000007991  213REIQKILEFVGRSLPEETVDFMV
Mmulatta  no alignment  ENSMMUG00000022334  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012821  213REIRKVVKFMGKDLPEETVEKIA
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 888 / 888
position (AA) of stopcodon in wt / mu AA sequence 296 / 296
position of stopcodon in wt / mu cDNA 953 / 953
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 66 / 66
chromosome 16
strand -1
last intron/exon boundary 841
theoretical NMD boundary in CDS 725
length of CDS 888
coding sequence (CDS) position 638
cDNA position
(for ins/del: last normal base / first normal base)
703
gDNA position
(for ins/del: last normal base / first normal base)
17433
chromosomal position
(for ins/del: last normal base / first normal base)
28617514
original gDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered gDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
original cDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered cDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
wildtype AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGRSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
mutated AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGHSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
speed 1.08 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

polymorphism

Model: simple_aae, prob: 0.999713565496675 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM973382)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:28617514C>TN/A show variant in all transcripts   IGV
HGNC symbol SULT1A1
Ensembl transcript ID ENST00000314752
Genbank transcript ID N/A
UniProt peptide P50225
alteration type single base exchange
alteration region CDS
DNA changes c.638G>A
cDNA.719G>A
g.17433G>A
AA changes R213H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
213
frameshift no
known variant Reference ID: rs9282861
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC36901723420924

known disease mutation at this position, please check HGMD for details (HGMD ID CM973382)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1280.938
0.9450.934
(flanking)0.1840.916
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 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      213REIQKILEFVGRSLPEETVDFVVQ
mutated  not conserved    213REIQKILEFVGHSLPEETVDFVV
Ptroglodytes  all identical  ENSPTRG00000007991  213REIQKILEFVGRSLPEETVDFMV
Mmulatta  no alignment  ENSMMUG00000022334  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012821  213REIRKVVKFMGKDLPEETVEKIA
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 888 / 888
position (AA) of stopcodon in wt / mu AA sequence 296 / 296
position of stopcodon in wt / mu cDNA 969 / 969
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 82 / 82
chromosome 16
strand -1
last intron/exon boundary 857
theoretical NMD boundary in CDS 725
length of CDS 888
coding sequence (CDS) position 638
cDNA position
(for ins/del: last normal base / first normal base)
719
gDNA position
(for ins/del: last normal base / first normal base)
17433
chromosomal position
(for ins/del: last normal base / first normal base)
28617514
original gDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered gDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
original cDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered cDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
wildtype AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGRSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
mutated AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGHSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
speed 1.49 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

polymorphism

Model: simple_aae, prob: 0.999713565496675 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM973382)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:28617514C>TN/A show variant in all transcripts   IGV
HGNC symbol SULT1A1
Ensembl transcript ID ENST00000395609
Genbank transcript ID N/A
UniProt peptide P50225
alteration type single base exchange
alteration region CDS
DNA changes c.638G>A
cDNA.1397G>A
g.17433G>A
AA changes R213H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
213
frameshift no
known variant Reference ID: rs9282861
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC36901723420924

known disease mutation at this position, please check HGMD for details (HGMD ID CM973382)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1280.938
0.9450.934
(flanking)0.1840.916
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 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      213REIQKILEFVGRSLPEETVDFVVQ
mutated  not conserved    213REIQKILEFVGHSLPEETVDFVV
Ptroglodytes  all identical  ENSPTRG00000007991  213REIQKILEFVGRSLPEETVDFMV
Mmulatta  no alignment  ENSMMUG00000022334  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012821  213REIRKVVKFMGKDLPEETVEKIA
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 888 / 888
position (AA) of stopcodon in wt / mu AA sequence 296 / 296
position of stopcodon in wt / mu cDNA 1647 / 1647
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 760 / 760
chromosome 16
strand -1
last intron/exon boundary 1535
theoretical NMD boundary in CDS 725
length of CDS 888
coding sequence (CDS) position 638
cDNA position
(for ins/del: last normal base / first normal base)
1397
gDNA position
(for ins/del: last normal base / first normal base)
17433
chromosomal position
(for ins/del: last normal base / first normal base)
28617514
original gDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered gDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
original cDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered cDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
wildtype AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGRSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
mutated AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGHSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
speed 1.14 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

polymorphism

Model: simple_aae, prob: 0.999713565496675 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM973382)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:28617514C>TN/A show variant in all transcripts   IGV
HGNC symbol SULT1A1
Ensembl transcript ID ENST00000395607
Genbank transcript ID NM_177530
UniProt peptide P50225
alteration type single base exchange
alteration region CDS
DNA changes c.638G>A
cDNA.912G>A
g.17433G>A
AA changes R213H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
213
frameshift no
known variant Reference ID: rs9282861
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC36901723420924

known disease mutation at this position, please check HGMD for details (HGMD ID CM973382)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1280.938
0.9450.934
(flanking)0.1840.916
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 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      213REIQKILEFVGRSLPEETVDFVVQ
mutated  not conserved    213REIQKILEFVGHSLPEETVDFVV
Ptroglodytes  all identical  ENSPTRG00000007991  213REIQKILEFVGRSLPEETVDFMV
Mmulatta  no alignment  ENSMMUG00000022334  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012821  213REIRKVVKFMGKDLPEETVEKIA
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 888 / 888
position (AA) of stopcodon in wt / mu AA sequence 296 / 296
position of stopcodon in wt / mu cDNA 1162 / 1162
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 275 / 275
chromosome 16
strand -1
last intron/exon boundary 1050
theoretical NMD boundary in CDS 725
length of CDS 888
coding sequence (CDS) position 638
cDNA position
(for ins/del: last normal base / first normal base)
912
gDNA position
(for ins/del: last normal base / first normal base)
17433
chromosomal position
(for ins/del: last normal base / first normal base)
28617514
original gDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered gDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
original cDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered cDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
wildtype AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGRSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
mutated AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGHSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
speed 1.39 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

polymorphism

Model: simple_aae, prob: 0.998256867958152 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM973382)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:28617514C>TN/A show variant in all transcripts   IGV
HGNC symbol SULT1A1
Ensembl transcript ID ENST00000350842
Genbank transcript ID NM_177536
UniProt peptide P50225
alteration type single base exchange
alteration region CDS
DNA changes c.404G>A
cDNA.793G>A
g.17433G>A
AA changes R135H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
135
frameshift no
known variant Reference ID: rs9282861
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC36901723420924

known disease mutation at this position, please check HGMD for details (HGMD ID CM973382)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1280.938
0.9450.934
(flanking)0.1840.916
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 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      135REIQKILEFVGRSLPEETVDFVVQ
mutated  not conserved    135REIQKILEFVGHSLPEETVDFVV
Ptroglodytes  all identical  ENSPTRG00000007991  213REIQKILEFVGRSLPEETVDFMV
Mmulatta  no alignment  ENSMMUG00000022334  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012821  213REIRKVVKFMGKDLPEETVEKIA
protein features
start (aa)end (aa)featuredetails 
132145HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 654 / 654
position (AA) of stopcodon in wt / mu AA sequence 218 / 218
position of stopcodon in wt / mu cDNA 1043 / 1043
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 390 / 390
chromosome 16
strand -1
last intron/exon boundary 931
theoretical NMD boundary in CDS 491
length of CDS 654
coding sequence (CDS) position 404
cDNA position
(for ins/del: last normal base / first normal base)
793
gDNA position
(for ins/del: last normal base / first normal base)
17433
chromosomal position
(for ins/del: last normal base / first normal base)
28617514
original gDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered gDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
original cDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered cDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
wildtype AA sequence MLAKLLCDQV VGAPIAVSAF YAGMSILQGK DDIFLDLKQK FWNTYMVVYV ARNAKDVAVS
YYHFYHMAKV HPEPGTWDSF LEKFMVGEVS YGSWYQHVQE WWELSRTHPV LYLFYEDMKE
NPKREIQKIL EFVGRSLPEE TVDFVVQHTS FKEMKKNPMT NYTTVPQEFM DHSISPFMRK
GMAGDWKTTF TVAQNERFDA DYAEKMAGCS LSFRSEL*
mutated AA sequence MLAKLLCDQV VGAPIAVSAF YAGMSILQGK DDIFLDLKQK FWNTYMVVYV ARNAKDVAVS
YYHFYHMAKV HPEPGTWDSF LEKFMVGEVS YGSWYQHVQE WWELSRTHPV LYLFYEDMKE
NPKREIQKIL EFVGHSLPEE TVDFVVQHTS FKEMKKNPMT NYTTVPQEFM DHSISPFMRK
GMAGDWKTTF TVAQNERFDA DYAEKMAGCS LSFRSEL*
speed 1.54 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