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: ENST00000543643
Querying Taster for transcript #2: ENST00000491895
Querying Taster for transcript #3: ENST00000536224
Querying Taster for transcript #4: ENST00000395514
MT speed 0 s - this script 4.171746 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GCH1disease_causing_automatic0.999999999981752simple_aaeaffected0G201Esingle base exchangers104894438show file
GCH1disease_causing_automatic0.999999999981752simple_aaeaffected0G201Esingle base exchangers104894438show file
GCH1disease_causing_automatic0.999999999981752simple_aaeaffected0G201Esingle base exchangers104894438show file
GCH1disease_causing_automatic0.999999999981752simple_aaeaffected0G201Esingle base exchangers104894438show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999981752 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940822)
  • known disease mutation: rs9274 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55312510C>TN/A show variant in all transcripts   IGV
HGNC symbol GCH1
Ensembl transcript ID ENST00000543643
Genbank transcript ID NM_001024070
UniProt peptide P30793
alteration type single base exchange
alteration region CDS
DNA changes c.602G>A
cDNA.746G>A
g.57061G>A
AA changes G201E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 201
frameshift no
known variant Reference ID: rs104894438
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs9274 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0480.988
4.771
(flanking)4.771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased57057wt: 0.89 / mu: 0.98wt: GGCCTGCTGGAGTCG
mu: GGCCTGCTGAAGTCG		 CCTG|ctgg
Donor gained570620.47mu: GCTGAAGTCGGGGTA TGAA|gtcg
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      201AVAITEALRPAGVGVVVEATKSNK
mutated  not conserved    201AVAITEALRPAEVGVVVEATKSN
Ptroglodytes  all identical  ENSPTRG00000006365  201AVAITEALRPAGVGVVVEATHMC
Mmulatta  all identical  ENSMMUG00000004084  201AVAITEALRPAGVGVVVEATHMC
Fcatus  all identical  ENSFCAG00000008872  86AVAITEALRPAGVGVVVEATHMC
Mmusculus  all identical  ENSMUSG00000037580  192VAITEALQPAGVGVVIEATHMC
Ggallus  all identical  ENSGALG00000012200  187ALQPAGVGVVIEATHMC
Trubripes  all identical  ENSTRUG00000015367  208AVAITEALHPTGVGVVIE
Drerio  all identical  ENSDARG00000070453  202AVAITEALQPAGVGVVVEATHMC
Dmelanogaster  all identical  FBgn0003162  274AVAVTQAVQPAGVAVVVEGVHMC
Celegans  all identical  F32G8.6  173ATAMVQAVQPSGVAVVIEASHMC
Xtropicalis  all identical  ENSXETG00000012214  198AIAITEALHPSGVGVVVEATHMC
protein features
start (aa)end (aa)featuredetails 
202210STRANDmight get lost (downstream of altered splice site)
206206CONFLICTV -> I (in Ref. 9; CAA78908).might get lost (downstream of altered splice site)
211214HELIXmight get lost (downstream of altered splice site)
212212METALZinc.might get lost (downstream of altered splice site)
215217TURNmight get lost (downstream of altered splice site)
224230STRANDmight get lost (downstream of altered splice site)
233236HELIXmight get lost (downstream of altered splice site)
238248HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 702 / 702
position (AA) of stopcodon in wt / mu AA sequence 234 / 234
position of stopcodon in wt / mu cDNA 846 / 846
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 145 / 145
chromosome 14
strand -1
last intron/exon boundary 859
theoretical NMD boundary in CDS 664
length of CDS 702
coding sequence (CDS) position 602
cDNA position
(for ins/del: last normal base / first normal base)		 746
gDNA position
(for ins/del: last normal base / first normal base)		 57061
chromosomal position
(for ins/del: last normal base / first normal base)		 55312510
original gDNA sequence snippet GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAG
altered gDNA sequence snippet GGAAGCCTTGCGGCCTGCTGAAGTCGGGGTAGTGGTTGAAG
original cDNA sequence snippet GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAG
altered cDNA sequence snippet GGAAGCCTTGCGGCCTGCTGAAGTCGGGGTAGTGGTTGAAG
wildtype AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATK SNKYNKGLSP LLSSCHLFVA ILK*
mutated AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA EVGVVVEATK SNKYNKGLSP LLSSCHLFVA ILK*
speed 0.71 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: 0.999999999981752 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940822)
  • known disease mutation: rs9274 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55312510C>TN/A show variant in all transcripts   IGV
HGNC symbol GCH1
Ensembl transcript ID ENST00000491895
Genbank transcript ID NM_000161
UniProt peptide P30793
alteration type single base exchange
alteration region CDS
DNA changes c.602G>A
cDNA.791G>A
g.57061G>A
AA changes G201E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 201
frameshift no
known variant Reference ID: rs104894438
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs9274 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0480.988
4.771
(flanking)4.771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased57057wt: 0.89 / mu: 0.98wt: GGCCTGCTGGAGTCG
mu: GGCCTGCTGAAGTCG		 CCTG|ctgg
Donor gained570620.47mu: GCTGAAGTCGGGGTA TGAA|gtcg
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      201AVAITEALRPAGVGVVVEATHMCM
mutated  not conserved    201AVAITEALRPAEVGVVVEATHMC
Ptroglodytes  all identical  ENSPTRG00000006365  201AVAITEALRPAGVGVVVEATHMC
Mmulatta  all identical  ENSMMUG00000004084  201AVAITEALRPAGVGVVVEATHMC
Fcatus  all identical  ENSFCAG00000008872  86AVAITEALRPAGVGVVVEATHMC
Mmusculus  all identical  ENSMUSG00000037580  192VAITEALQPAGVGVVIEATHMC
Ggallus  all identical  ENSGALG00000012200  187ALQPAGVGVVIEATHMC
Trubripes  all identical  ENSTRUG00000015367  208AVAITEALHPTGVGVVIE
Drerio  all identical  ENSDARG00000070453  202AVAITEALQPAGVGVVVEATHMC
Dmelanogaster  all identical  FBgn0003162  274AVAVTQAVQPAGVAVVVEGVHMC
Celegans  all identical  F32G8.6  173ATAMVQAVQPSGVAVVIEASHMC
Xtropicalis  all identical  ENSXETG00000012214  198AIAITEALHPSGVGVVVEATHMC
protein features
start (aa)end (aa)featuredetails 
202210STRANDmight get lost (downstream of altered splice site)
206206CONFLICTV -> I (in Ref. 9; CAA78908).might get lost (downstream of altered splice site)
211214HELIXmight get lost (downstream of altered splice site)
212212METALZinc.might get lost (downstream of altered splice site)
215217TURNmight get lost (downstream of altered splice site)
224230STRANDmight get lost (downstream of altered splice site)
233236HELIXmight get lost (downstream of altered splice site)
238248HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 753 / 753
position (AA) of stopcodon in wt / mu AA sequence 251 / 251
position of stopcodon in wt / mu cDNA 942 / 942
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 190 / 190
chromosome 14
strand -1
last intron/exon boundary 816
theoretical NMD boundary in CDS 576
length of CDS 753
coding sequence (CDS) position 602
cDNA position
(for ins/del: last normal base / first normal base)		 791
gDNA position
(for ins/del: last normal base / first normal base)		 57061
chromosomal position
(for ins/del: last normal base / first normal base)		 55312510
original gDNA sequence snippet GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAG
altered gDNA sequence snippet GGAAGCCTTGCGGCCTGCTGAAGTCGGGGTAGTGGTTGAAG
original cDNA sequence snippet GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAG
altered cDNA sequence snippet GGAAGCCTTGCGGCCTGCTGAAGTCGGGGTAGTGGTTGAAG
wildtype AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT
REEFLTLIRS *
mutated AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA EVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT
REEFLTLIRS *
speed 0.68 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: 0.999999999981752 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940822)
  • known disease mutation: rs9274 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55312510C>TN/A show variant in all transcripts   IGV
HGNC symbol GCH1
Ensembl transcript ID ENST00000536224
Genbank transcript ID NM_001024071
UniProt peptide P30793
alteration type single base exchange
alteration region CDS
DNA changes c.602G>A
cDNA.755G>A
g.57061G>A
AA changes G201E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 201
frameshift no
known variant Reference ID: rs104894438
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs9274 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0480.988
4.771
(flanking)4.771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased57057wt: 0.89 / mu: 0.98wt: GGCCTGCTGGAGTCG
mu: GGCCTGCTGAAGTCG		 CCTG|ctgg
Donor gained570620.47mu: GCTGAAGTCGGGGTA TGAA|gtcg
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      201AVAITEALRPAGVGVVVEATSAEP
mutated  not conserved    201AVAITEALRPAEVGVVVEATSAE
Ptroglodytes  all identical  ENSPTRG00000006365  201AVAITEALRPAGVGVVVEAT
Mmulatta  all identical  ENSMMUG00000004084  201AVAITEALRPAGVGVVVEAT
Fcatus  all identical  ENSFCAG00000008872  86AVAITEALRPAGVGVVVEAT
Mmusculus  all identical  ENSMUSG00000037580  192VAITEALQPAGVGVVIEAT
Ggallus  all identical  ENSGALG00000012200  187ALQPAGVGVVIEAT
Trubripes  all identical  ENSTRUG00000015367  208AVAITEALHPTGVGVVIE
Drerio  all identical  ENSDARG00000070453  202AVAITEALQPAGVGVVVEAT
Dmelanogaster  all identical  FBgn0003162  274AVAVTQAVQPAGVAVVVE
Celegans  all identical  F32G8.6  173ATAMVQAVQPSGVAVVIEAS
Xtropicalis  all identical  ENSXETG00000012214  198AIAITEALHPSGVGVVVEAT
protein features
start (aa)end (aa)featuredetails 
202210STRANDmight get lost (downstream of altered splice site)
206206CONFLICTV -> I (in Ref. 9; CAA78908).might get lost (downstream of altered splice site)
211214HELIXmight get lost (downstream of altered splice site)
212212METALZinc.might get lost (downstream of altered splice site)
215217TURNmight get lost (downstream of altered splice site)
224230STRANDmight get lost (downstream of altered splice site)
233236HELIXmight get lost (downstream of altered splice site)
238248HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 642 / 642
position (AA) of stopcodon in wt / mu AA sequence 214 / 214
position of stopcodon in wt / mu cDNA 795 / 795
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 154 / 154
chromosome 14
strand -1
last intron/exon boundary 780
theoretical NMD boundary in CDS 576
length of CDS 642
coding sequence (CDS) position 602
cDNA position
(for ins/del: last normal base / first normal base)		 755
gDNA position
(for ins/del: last normal base / first normal base)		 57061
chromosomal position
(for ins/del: last normal base / first normal base)		 55312510
original gDNA sequence snippet GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAG
altered gDNA sequence snippet GGAAGCCTTGCGGCCTGCTGAAGTCGGGGTAGTGGTTGAAG
original cDNA sequence snippet GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAG
altered cDNA sequence snippet GGAAGCCTTGCGGCCTGCTGAAGTCGGGGTAGTGGTTGAAG
wildtype AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATS AEP*
mutated AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA EVGVVVEATS AEP*
speed 0.70 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: 0.999999999981752 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940822)
  • known disease mutation: rs9274 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55312510C>TN/A show variant in all transcripts   IGV
HGNC symbol GCH1
Ensembl transcript ID ENST00000395514
Genbank transcript ID NM_001024024
UniProt peptide P30793
alteration type single base exchange
alteration region CDS
DNA changes c.602G>A
cDNA.763G>A
g.57061G>A
AA changes G201E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 201
frameshift no
known variant Reference ID: rs104894438
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs9274 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940822)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0480.988
4.771
(flanking)4.771
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased57057wt: 0.89 / mu: 0.98wt: GGCCTGCTGGAGTCG
mu: GGCCTGCTGAAGTCG		 CCTG|ctgg
Donor gained570620.47mu: GCTGAAGTCGGGGTA TGAA|gtcg
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      201AVAITEALRPAGVGVVVEATHMCM
mutated  not conserved    201AVAITEALRPAEVGVVVEATHMC
Ptroglodytes  all identical  ENSPTRG00000006365  201AVAITEALRPAGVGVVVEATHMC
Mmulatta  all identical  ENSMMUG00000004084  201AVAITEALRPAGVGVVVEATHMC
Fcatus  all identical  ENSFCAG00000008872  86AVAITEALRPAGVGVVVEATHMC
Mmusculus  all identical  ENSMUSG00000037580  192VAITEALQPAGVGVVIEATHMC
Ggallus  all identical  ENSGALG00000012200  187ALQPAGVGVVIEATHMC
Trubripes  all identical  ENSTRUG00000015367  208AVAITEALHPTGVGVVIE
Drerio  all identical  ENSDARG00000070453  202AVAITEALQPAGVGVVVEATHMC
Dmelanogaster  all identical  FBgn0003162  274AVAVTQAVQPAGVAVVVEGVHMC
Celegans  all identical  F32G8.6  173ATAMVQAVQPSGVAVVIEASHMC
Xtropicalis  all identical  ENSXETG00000012214  198AIAITEALHPSGVGVVVEATHMC
protein features
start (aa)end (aa)featuredetails 
202210STRANDmight get lost (downstream of altered splice site)
206206CONFLICTV -> I (in Ref. 9; CAA78908).might get lost (downstream of altered splice site)
211214HELIXmight get lost (downstream of altered splice site)
212212METALZinc.might get lost (downstream of altered splice site)
215217TURNmight get lost (downstream of altered splice site)
224230STRANDmight get lost (downstream of altered splice site)
233236HELIXmight get lost (downstream of altered splice site)
238248HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 753 / 753
position (AA) of stopcodon in wt / mu AA sequence 251 / 251
position of stopcodon in wt / mu cDNA 914 / 914
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 162 / 162
chromosome 14
strand -1
last intron/exon boundary 931
theoretical NMD boundary in CDS 719
length of CDS 753
coding sequence (CDS) position 602
cDNA position
(for ins/del: last normal base / first normal base)		 763
gDNA position
(for ins/del: last normal base / first normal base)		 57061
chromosomal position
(for ins/del: last normal base / first normal base)		 55312510
original gDNA sequence snippet GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAG
altered gDNA sequence snippet GGAAGCCTTGCGGCCTGCTGAAGTCGGGGTAGTGGTTGAAG
original cDNA sequence snippet GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAG
altered cDNA sequence snippet GGAAGCCTTGCGGCCTGCTGAAGTCGGGGTAGTGGTTGAAG
wildtype AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT
REEFLTLIRS *
mutated AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA EVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT
REEFLTLIRS *
speed 0.69 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