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 3.829976 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GCH1disease_causing_automatic0.999999999999966simple_aaeaffected0H144Psingle base exchangers104894440show file
GCH1disease_causing_automatic0.999999999999966simple_aaeaffected0H144Psingle base exchangers104894440show file
GCH1disease_causing_automatic0.999999999999966simple_aaeaffected0H144Psingle base exchangers104894440show file
GCH1disease_causing_automatic0.999999999999966simple_aaeaffected0H144Psingle base exchangers104894440show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999966 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011352)
  • known disease mutation: rs9278 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55332067T>GN/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.431A>C
cDNA.575A>C
g.37504A>C
AA changes H144P Score: 77 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 144
frameshift no
known variant Reference ID: rs104894440
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs9278 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2940.796
5.0541
(flanking)6.121
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 increased37494wt: 0.6880 / mu: 0.7283 (marginal change - not scored)wt: ACATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCA
mu: ACATAGACATGTTTTCCATGTGTGAGCATCCCTTGGTTCCA		 atgt|GTGA
Acc increased37514wt: 0.38 / mu: 0.67wt: TGTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTAAGGTT
mu: TGTGAGCATCCCTTGGTTCCATTTGTTGGAAAGGTAAGGTT		 tcca|TTTG
Acc marginally increased37496wt: 0.7855 / mu: 0.8295 (marginal change - not scored)wt: ATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCATT
mu: ATAGACATGTTTTCCATGTGTGAGCATCCCTTGGTTCCATT		 gtgt|GAGC
Acc increased37515wt: 0.21 / mu: 0.50wt: GTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTAAGGTTC
mu: GTGAGCATCCCTTGGTTCCATTTGTTGGAAAGGTAAGGTTC		 ccat|TTGT
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      144KDIDMFSMCEHHLVPFVGKVHIGY
mutated  not conserved    144KDIDMFSMCEHPLVPFVGKVHIG
Ptroglodytes  all identical  ENSPTRG00000006365  144KDIDMFSMCEHHLVPFVGKVHIG
Mmulatta  all identical  ENSMMUG00000004084  144KDIDMFSMCEHHLVPFVGKVHIG
Fcatus  all identical  ENSFCAG00000008872  29KDIDMFSMCEHHLVPFVGKVHIG
Mmusculus  all identical  ENSMUSG00000037580  135KDIDMFSMCEHHLVPFVGRVHIG
Ggallus  all identical  ENSGALG00000012200  130DMFSLCEHHLVPFVGKVHIG
Trubripes  all identical  ENSTRUG00000015367  151KDIDMFSMCEHHLVP
Drerio  all identical  ENSDARG00000070453  145KDIDMFSMCEHHLVPIFGRVHIG
Dmelanogaster  all identical  FBgn0003162  217KDIEMFSMCEHHLVPFYGKVSIG
Celegans  all identical  F32G8.6  116KDIEMFSLCEHHLVPFMGKVHIG
Xtropicalis  all identical  ENSXETG00000012214  141KDIDMFSMCEHHLVPFIGKVHIG
protein features
start (aa)end (aa)featuredetails 
142144TURNlost
144144METALZinc.lost
147156STRANDmight get lost (downstream of altered splice site)
165176HELIXmight get lost (downstream of altered splice site)
177180STRANDmight get lost (downstream of altered splice site)
182197HELIXmight get lost (downstream of altered splice site)
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 431
cDNA position
(for ins/del: last normal base / first normal base)		 575
gDNA position
(for ins/del: last normal base / first normal base)		 37504
chromosomal position
(for ins/del: last normal base / first normal base)		 55332067
original gDNA sequence snippet GTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAA
altered gDNA sequence snippet GTTTTCCATGTGTGAGCATCCCTTGGTTCCATTTGTTGGAA
original cDNA sequence snippet GTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAA
altered cDNA sequence snippet GTTTTCCATGTGTGAGCATCCCTTGGTTCCATTTGTTGGAA
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 CEHPLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATK SNKYNKGLSP LLSSCHLFVA ILK*
speed 0.82 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: 0.999999999999966 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011352)
  • known disease mutation: rs9278 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55332067T>GN/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.431A>C
cDNA.620A>C
g.37504A>C
AA changes H144P Score: 77 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 144
frameshift no
known variant Reference ID: rs104894440
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs9278 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2940.796
5.0541
(flanking)6.121
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 increased37494wt: 0.6880 / mu: 0.7283 (marginal change - not scored)wt: ACATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCA
mu: ACATAGACATGTTTTCCATGTGTGAGCATCCCTTGGTTCCA		 atgt|GTGA
Acc increased37514wt: 0.38 / mu: 0.67wt: TGTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTAAGGTT
mu: TGTGAGCATCCCTTGGTTCCATTTGTTGGAAAGGTAAGGTT		 tcca|TTTG
Acc marginally increased37496wt: 0.7855 / mu: 0.8295 (marginal change - not scored)wt: ATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCATT
mu: ATAGACATGTTTTCCATGTGTGAGCATCCCTTGGTTCCATT		 gtgt|GAGC
Acc increased37515wt: 0.21 / mu: 0.50wt: GTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTAAGGTTC
mu: GTGAGCATCCCTTGGTTCCATTTGTTGGAAAGGTAAGGTTC		 ccat|TTGT
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      144KDIDMFSMCEHHLVPFVGKVHIGY
mutated  not conserved    144KDIDMFSMCEHPLVPFVGKVHIG
Ptroglodytes  all identical  ENSPTRG00000006365  144KDIDMFSMCEHHLVPFVGKVHIG
Mmulatta  all identical  ENSMMUG00000004084  144KDIDMFSMCEHHLVPFVGKVHIG
Fcatus  all identical  ENSFCAG00000008872  29KDIDMFSMCEHHLVPFVGKVHIG
Mmusculus  all identical  ENSMUSG00000037580  135KDIDMFSMCEHHLVPFVGRVHIG
Ggallus  all identical  ENSGALG00000012200  130DMFSLCEHHLVPFVGKVHIG
Trubripes  all identical  ENSTRUG00000015367  151KDIDMFSMCEHHLVP
Drerio  all identical  ENSDARG00000070453  145KDIDMFSMCEHHLVPIFGRVHIG
Dmelanogaster  all identical  FBgn0003162  217KDIEMFSMCEHHLVPFYGKVSIG
Celegans  all identical  F32G8.6  116KDIEMFSLCEHHLVPFMGKVHIG
Xtropicalis  all identical  ENSXETG00000012214  141KDIDMFSMCEHHLVPFIGKVHIG
protein features
start (aa)end (aa)featuredetails 
142144TURNlost
144144METALZinc.lost
147156STRANDmight get lost (downstream of altered splice site)
165176HELIXmight get lost (downstream of altered splice site)
177180STRANDmight get lost (downstream of altered splice site)
182197HELIXmight get lost (downstream of altered splice site)
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 431
cDNA position
(for ins/del: last normal base / first normal base)		 620
gDNA position
(for ins/del: last normal base / first normal base)		 37504
chromosomal position
(for ins/del: last normal base / first normal base)		 55332067
original gDNA sequence snippet GTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAA
altered gDNA sequence snippet GTTTTCCATGTGTGAGCATCCCTTGGTTCCATTTGTTGGAA
original cDNA sequence snippet GTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAA
altered cDNA sequence snippet GTTTTCCATGTGTGAGCATCCCTTGGTTCCATTTGTTGGAA
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 CEHPLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT
REEFLTLIRS *
speed 0.52 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: 0.999999999999966 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011352)
  • known disease mutation: rs9278 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55332067T>GN/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.431A>C
cDNA.584A>C
g.37504A>C
AA changes H144P Score: 77 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 144
frameshift no
known variant Reference ID: rs104894440
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs9278 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2940.796
5.0541
(flanking)6.121
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 increased37494wt: 0.6880 / mu: 0.7283 (marginal change - not scored)wt: ACATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCA
mu: ACATAGACATGTTTTCCATGTGTGAGCATCCCTTGGTTCCA		 atgt|GTGA
Acc increased37514wt: 0.38 / mu: 0.67wt: TGTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTAAGGTT
mu: TGTGAGCATCCCTTGGTTCCATTTGTTGGAAAGGTAAGGTT		 tcca|TTTG
Acc marginally increased37496wt: 0.7855 / mu: 0.8295 (marginal change - not scored)wt: ATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCATT
mu: ATAGACATGTTTTCCATGTGTGAGCATCCCTTGGTTCCATT		 gtgt|GAGC
Acc increased37515wt: 0.21 / mu: 0.50wt: GTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTAAGGTTC
mu: GTGAGCATCCCTTGGTTCCATTTGTTGGAAAGGTAAGGTTC		 ccat|TTGT
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      144KDIDMFSMCEHHLVPFVGKVHIGY
mutated  not conserved    144KDIDMFSMCEHPLVPFVGKVHIG
Ptroglodytes  all identical  ENSPTRG00000006365  144KDIDMFSMCEHHLVPFVGKVHIG
Mmulatta  all identical  ENSMMUG00000004084  144KDIDMFSMCEHHLVPFVGKVHIG
Fcatus  all identical  ENSFCAG00000008872  29KDIDMFSMCEHHLVPFVGKVHIG
Mmusculus  all identical  ENSMUSG00000037580  135KDIDMFSMCEHHLVPFVGRVHIG
Ggallus  all identical  ENSGALG00000012200  130DMFSLCEHHLVPFVGKVHIG
Trubripes  all identical  ENSTRUG00000015367  151KDIDMFSMCEHHLVP
Drerio  all identical  ENSDARG00000070453  145KDIDMFSMCEHHLVPIFGRVHIG
Dmelanogaster  all identical  FBgn0003162  217KDIEMFSMCEHHLVPFYGKVSIG
Celegans  all identical  F32G8.6  116KDIEMFSLCEHHLVPFMGKVHIG
Xtropicalis  all identical  ENSXETG00000012214  141KDIDMFSMCEHHLVPFIGKVHIG
protein features
start (aa)end (aa)featuredetails 
142144TURNlost
144144METALZinc.lost
147156STRANDmight get lost (downstream of altered splice site)
165176HELIXmight get lost (downstream of altered splice site)
177180STRANDmight get lost (downstream of altered splice site)
182197HELIXmight get lost (downstream of altered splice site)
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 431
cDNA position
(for ins/del: last normal base / first normal base)		 584
gDNA position
(for ins/del: last normal base / first normal base)		 37504
chromosomal position
(for ins/del: last normal base / first normal base)		 55332067
original gDNA sequence snippet GTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAA
altered gDNA sequence snippet GTTTTCCATGTGTGAGCATCCCTTGGTTCCATTTGTTGGAA
original cDNA sequence snippet GTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAA
altered cDNA sequence snippet GTTTTCCATGTGTGAGCATCCCTTGGTTCCATTTGTTGGAA
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 CEHPLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATS AEP*
speed 0.46 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: 0.999999999999966 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011352)
  • known disease mutation: rs9278 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55332067T>GN/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.431A>C
cDNA.592A>C
g.37504A>C
AA changes H144P Score: 77 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 144
frameshift no
known variant Reference ID: rs104894440
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs9278 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011352)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2940.796
5.0541
(flanking)6.121
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 increased37494wt: 0.6880 / mu: 0.7283 (marginal change - not scored)wt: ACATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCA
mu: ACATAGACATGTTTTCCATGTGTGAGCATCCCTTGGTTCCA		 atgt|GTGA
Acc increased37514wt: 0.38 / mu: 0.67wt: TGTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTAAGGTT
mu: TGTGAGCATCCCTTGGTTCCATTTGTTGGAAAGGTAAGGTT		 tcca|TTTG
Acc marginally increased37496wt: 0.7855 / mu: 0.8295 (marginal change - not scored)wt: ATAGACATGTTTTCCATGTGTGAGCATCACTTGGTTCCATT
mu: ATAGACATGTTTTCCATGTGTGAGCATCCCTTGGTTCCATT		 gtgt|GAGC
Acc increased37515wt: 0.21 / mu: 0.50wt: GTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTAAGGTTC
mu: GTGAGCATCCCTTGGTTCCATTTGTTGGAAAGGTAAGGTTC		 ccat|TTGT
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      144KDIDMFSMCEHHLVPFVGKVHIGY
mutated  not conserved    144KDIDMFSMCEHPLVPFVGKVHIG
Ptroglodytes  all identical  ENSPTRG00000006365  144KDIDMFSMCEHHLVPFVGKVHIG
Mmulatta  all identical  ENSMMUG00000004084  144KDIDMFSMCEHHLVPFVGKVHIG
Fcatus  all identical  ENSFCAG00000008872  29KDIDMFSMCEHHLVPFVGKVHIG
Mmusculus  all identical  ENSMUSG00000037580  135KDIDMFSMCEHHLVPFVGRVHIG
Ggallus  all identical  ENSGALG00000012200  130DMFSLCEHHLVPFVGKVHIG
Trubripes  all identical  ENSTRUG00000015367  151KDIDMFSMCEHHLVP
Drerio  all identical  ENSDARG00000070453  145KDIDMFSMCEHHLVPIFGRVHIG
Dmelanogaster  all identical  FBgn0003162  217KDIEMFSMCEHHLVPFYGKVSIG
Celegans  all identical  F32G8.6  116KDIEMFSLCEHHLVPFMGKVHIG
Xtropicalis  all identical  ENSXETG00000012214  141KDIDMFSMCEHHLVPFIGKVHIG
protein features
start (aa)end (aa)featuredetails 
142144TURNlost
144144METALZinc.lost
147156STRANDmight get lost (downstream of altered splice site)
165176HELIXmight get lost (downstream of altered splice site)
177180STRANDmight get lost (downstream of altered splice site)
182197HELIXmight get lost (downstream of altered splice site)
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 431
cDNA position
(for ins/del: last normal base / first normal base)		 592
gDNA position
(for ins/del: last normal base / first normal base)		 37504
chromosomal position
(for ins/del: last normal base / first normal base)		 55332067
original gDNA sequence snippet GTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAA
altered gDNA sequence snippet GTTTTCCATGTGTGAGCATCCCTTGGTTCCATTTGTTGGAA
original cDNA sequence snippet GTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGTTGGAA
altered cDNA sequence snippet GTTTTCCATGTGTGAGCATCCCTTGGTTCCATTTGTTGGAA
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 CEHPLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT
REEFLTLIRS *
speed 0.49 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
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Problems