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: ENST00000380062
Querying Taster for transcript #2: ENST00000429045
Querying Taster for transcript #3: ENST00000433700
Querying Taster for transcript #4: ENST00000443698
MT speed 0 s - this script 4.43977 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
IFT74polymorphism_automatic0.999999417496365simple_aaeaffectedK85Rsingle base exchangers11555693show file
IFT74polymorphism_automatic0.999999417496365simple_aaeaffectedK85Rsingle base exchangers11555693show file
IFT74polymorphism_automatic0.999999417496365simple_aaeaffectedK85Rsingle base exchangers11555693show file
IFT74polymorphism_automatic0.999999417496365simple_aaeaffectedK85Rsingle base exchangers11555693show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 5.82503635345495e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:26978259A>GN/A show variant in all transcripts   IGV
HGNC symbol IFT74
Ensembl transcript ID ENST00000380062
Genbank transcript ID NM_025103
UniProt peptide Q96LB3
alteration type single base exchange
alteration region CDS
DNA changes c.254A>G
cDNA.417A>G
g.31223A>G
AA changes K85R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs11555693
databasehomozygous (G/G)heterozygousallele carriers
1000G261650911
ExAC26041029312897
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)4.741
4.741
(flanking)4.741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost31224sequence motif lost- wt: AAAG|gtac
 mu: AGAG.gtac
Donor marginally increased31220wt: 0.9955 / mu: 0.9956 (marginal change - not scored)wt: TGGGACGAAAGGTAC
mu: TGGGACGAGAGGTAC		 GGAC|gaaa
Donor marginally decreased31224wt: 0.9364 / mu: 0.9019 (marginal change - not scored)wt: ACGAAAGGTACCTAT
mu: ACGAGAGGTACCTAT		 GAAA|ggta
Donor gained312170.97mu: AACTGGGACGAGAGG CTGG|gacg
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85QQGLTGMKTGTKGPQRQILDKSYY
mutated  all conserved    85QQGLTGMKTGTRGPQRQILDKSY
Ptroglodytes  all identical  ENSPTRG00000020833  85QQGLTGMKTGTKGPQRQILDKSY
Mmulatta  all identical  ENSMMUG00000006076  85QQGLTGMKTGMKGPQRQILDKSY
Fcatus  all identical  ENSFCAG00000002829  85QQGLSGMKTGMKGSQRQILDKSY
Mmusculus  all identical  ENSMUSG00000028576  85QQGLSGMKTGMKGPQRQILDKSY
Ggallus  all identical  ENSGALG00000001801  72LSGMKTGMKGPQRQIKDKTY
Trubripes  all identical  ENSTRUG00000017413  86QQGLSGMKTGMKGPQRQIQDKTY
Drerio  no alignment  ENSDARG00000023495  n/a
Dmelanogaster  no homologue    
Celegans  not conserved  C18H9.8  175QQGLRAPPSRMGT-GNSRQVFDKSY
Xtropicalis  all identical  ENSXETG00000009383  87QQGLSGMKTAMKGPQRQIMDKSY
protein features
start (aa)end (aa)featuredetails 
98482COILEDPotential.might get lost (downstream of altered splice site)
172172CONFLICTD -> G (in Ref. 2; BAB14650).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1803 / 1803
position (AA) of stopcodon in wt / mu AA sequence 601 / 601
position of stopcodon in wt / mu cDNA 1966 / 1966
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 164 / 164
chromosome 9
strand 1
last intron/exon boundary 1848
theoretical NMD boundary in CDS 1634
length of CDS 1803
coding sequence (CDS) position 254
cDNA position
(for ins/del: last normal base / first normal base)		 417
gDNA position
(for ins/del: last normal base / first normal base)		 31223
chromosomal position
(for ins/del: last normal base / first normal base)		 26978259
original gDNA sequence snippet TGGAATGAAAACTGGGACGAAAGGTACCTATTTTAAGATAA
altered gDNA sequence snippet TGGAATGAAAACTGGGACGAGAGGTACCTATTTTAAGATAA
original cDNA sequence snippet TGGAATGAAAACTGGGACGAAAGGTCCCCAGAGGCAAATTT
altered cDNA sequence snippet TGGAATGAAAACTGGGACGAGAGGTCCCCAGAGGCAAATTT
wildtype AA sequence MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
LSSQIKVAHR PVTQQGLTGM KTGTKGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QGEMNQKYKE
LKKREEHMDT FIETFEETKN QELKRKAQIE ANIVALLEHC SRNINRIEQI SSITNQELKM
MQDDLNFKST EVQKSQSTAQ NLTSDIQRLQ LDLQKMELLE SKMTEEQHSL KSKIKQMTTD
LEIYNDLPAL KSSGEEKIKK LHQERMILST HRNAFKKIME KQNIEYEALK TQLQENETHS
QLTNLERKWQ HLEQNNFAMK EFIATKSQES DYQPIKKNVT KQIAEYNKTI VDALHSTSGN
*
mutated AA sequence MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
LSSQIKVAHR PVTQQGLTGM KTGTRGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QGEMNQKYKE
LKKREEHMDT FIETFEETKN QELKRKAQIE ANIVALLEHC SRNINRIEQI SSITNQELKM
MQDDLNFKST EVQKSQSTAQ NLTSDIQRLQ LDLQKMELLE SKMTEEQHSL KSKIKQMTTD
LEIYNDLPAL KSSGEEKIKK LHQERMILST HRNAFKKIME KQNIEYEALK TQLQENETHS
QLTNLERKWQ HLEQNNFAMK EFIATKSQES DYQPIKKNVT KQIAEYNKTI VDALHSTSGN
*
speed 0.81 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: 5.82503635345495e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:26978259A>GN/A show variant in all transcripts   IGV
HGNC symbol IFT74
Ensembl transcript ID ENST00000429045
Genbank transcript ID NM_001099224
UniProt peptide Q96LB3
alteration type single base exchange
alteration region CDS
DNA changes c.254A>G
cDNA.311A>G
g.31223A>G
AA changes K85R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs11555693
databasehomozygous (G/G)heterozygousallele carriers
1000G261650911
ExAC26041029312897
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)4.741
4.741
(flanking)4.741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost31224sequence motif lost- wt: AAAG|gtac
 mu: AGAG.gtac
Donor marginally increased31220wt: 0.9955 / mu: 0.9956 (marginal change - not scored)wt: TGGGACGAAAGGTAC
mu: TGGGACGAGAGGTAC		 GGAC|gaaa
Donor marginally decreased31224wt: 0.9364 / mu: 0.9019 (marginal change - not scored)wt: ACGAAAGGTACCTAT
mu: ACGAGAGGTACCTAT		 GAAA|ggta
Donor gained312170.97mu: AACTGGGACGAGAGG CTGG|gacg
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85QQGLTGMKTGTKGPQRQILDKSYY
mutated  all conserved    85QQGLTGMKTGTRGPQRQILDKSY
Ptroglodytes  all identical  ENSPTRG00000020833  85QQGLTGMKTGTKGPQRQILDKSY
Mmulatta  all identical  ENSMMUG00000006076  85QQGLTGMKTGMKGPQRQILDKSY
Fcatus  all identical  ENSFCAG00000002829  85QQGLSGMKTGMKGSQRQILDKSY
Mmusculus  all identical  ENSMUSG00000028576  85QQGLSGMKTGMKGPQRQILDKSY
Ggallus  all identical  ENSGALG00000001801  72LSGMKTGMKGPQRQIKDKTY
Trubripes  all identical  ENSTRUG00000017413  86QQGLSGMKTGMKGPQRQIQDKTY
Drerio  no alignment  ENSDARG00000023495  n/a
Dmelanogaster  no homologue    
Celegans  not conserved  C18H9.8  175QQGLRAPPSRMGT-GNSRQVFDKSY
Xtropicalis  all identical  ENSXETG00000009383  87QQGLSGMKTAMKGPQRQIMDKSY
protein features
start (aa)end (aa)featuredetails 
98482COILEDPotential.might get lost (downstream of altered splice site)
172172CONFLICTD -> G (in Ref. 2; BAB14650).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1119 / 1119
position (AA) of stopcodon in wt / mu AA sequence 373 / 373
position of stopcodon in wt / mu cDNA 1176 / 1176
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 58 / 58
chromosome 9
strand 1
last intron/exon boundary 1112
theoretical NMD boundary in CDS 1004
length of CDS 1119
coding sequence (CDS) position 254
cDNA position
(for ins/del: last normal base / first normal base)		 311
gDNA position
(for ins/del: last normal base / first normal base)		 31223
chromosomal position
(for ins/del: last normal base / first normal base)		 26978259
original gDNA sequence snippet TGGAATGAAAACTGGGACGAAAGGTACCTATTTTAAGATAA
altered gDNA sequence snippet TGGAATGAAAACTGGGACGAGAGGTACCTATTTTAAGATAA
original cDNA sequence snippet TGGAATGAAAACTGGGACGAAAGGTCCCCAGAGGCAAATTT
altered cDNA sequence snippet TGGAATGAAAACTGGGACGAGAGGTCCCCAGAGGCAAATTT
wildtype AA sequence MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
LSSQIKVAHR PVTQQGLTGM KTGTKGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QDPTNYGWKI
LEKNTGSFKK QV*
mutated AA sequence MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
LSSQIKVAHR PVTQQGLTGM KTGTRGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QDPTNYGWKI
LEKNTGSFKK QV*
speed 0.83 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: 5.82503635345495e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:26978259A>GN/A show variant in all transcripts   IGV
HGNC symbol IFT74
Ensembl transcript ID ENST00000433700
Genbank transcript ID NM_001099223
UniProt peptide Q96LB3
alteration type single base exchange
alteration region CDS
DNA changes c.254A>G
cDNA.381A>G
g.31223A>G
AA changes K85R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs11555693
databasehomozygous (G/G)heterozygousallele carriers
1000G261650911
ExAC26041029312897
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)4.741
4.741
(flanking)4.741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost31224sequence motif lost- wt: AAAG|gtac
 mu: AGAG.gtac
Donor marginally increased31220wt: 0.9955 / mu: 0.9956 (marginal change - not scored)wt: TGGGACGAAAGGTAC
mu: TGGGACGAGAGGTAC		 GGAC|gaaa
Donor marginally decreased31224wt: 0.9364 / mu: 0.9019 (marginal change - not scored)wt: ACGAAAGGTACCTAT
mu: ACGAGAGGTACCTAT		 GAAA|ggta
Donor gained312170.97mu: AACTGGGACGAGAGG CTGG|gacg
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85QQGLTGMKTGTKGPQRQILDKSYY
mutated  all conserved    85QQGLTGMKTGTRGPQRQILDKSY
Ptroglodytes  all identical  ENSPTRG00000020833  85QQGLTGMKTGTKGPQRQILDKSY
Mmulatta  all identical  ENSMMUG00000006076  85QQGLTGMKTGMKGPQRQILDKSY
Fcatus  all identical  ENSFCAG00000002829  85QQGLSGMKTGMKGSQRQILDKSY
Mmusculus  all identical  ENSMUSG00000028576  85QQGLSGMKTGMKGPQRQILDKSY
Ggallus  all identical  ENSGALG00000001801  72LSGMKTGMKGPQRQIKDKTY
Trubripes  all identical  ENSTRUG00000017413  86QQGLSGMKTGMKGPQRQIQDKTY
Drerio  no alignment  ENSDARG00000023495  n/a
Dmelanogaster  no homologue    
Celegans  not conserved  C18H9.8  175QQGLRAPPSRMGT-GNSRQVFDKSY
Xtropicalis  all identical  ENSXETG00000009383  87QQGLSGMKTAMKGPQRQIMDKSY
protein features
start (aa)end (aa)featuredetails 
98482COILEDPotential.might get lost (downstream of altered splice site)
172172CONFLICTD -> G (in Ref. 2; BAB14650).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1803 / 1803
position (AA) of stopcodon in wt / mu AA sequence 601 / 601
position of stopcodon in wt / mu cDNA 1930 / 1930
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 128 / 128
chromosome 9
strand 1
last intron/exon boundary 1812
theoretical NMD boundary in CDS 1634
length of CDS 1803
coding sequence (CDS) position 254
cDNA position
(for ins/del: last normal base / first normal base)		 381
gDNA position
(for ins/del: last normal base / first normal base)		 31223
chromosomal position
(for ins/del: last normal base / first normal base)		 26978259
original gDNA sequence snippet TGGAATGAAAACTGGGACGAAAGGTACCTATTTTAAGATAA
altered gDNA sequence snippet TGGAATGAAAACTGGGACGAGAGGTACCTATTTTAAGATAA
original cDNA sequence snippet TGGAATGAAAACTGGGACGAAAGGTCCCCAGAGGCAAATTT
altered cDNA sequence snippet TGGAATGAAAACTGGGACGAGAGGTCCCCAGAGGCAAATTT
wildtype AA sequence MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
LSSQIKVAHR PVTQQGLTGM KTGTKGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QGEMNQKYKE
LKKREEHMDT FIETFEETKN QELKRKAQIE ANIVALLEHC SRNINRIEQI SSITNQELKM
MQDDLNFKST EVQKSQSTAQ NLTSDIQRLQ LDLQKMELLE SKMTEEQHSL KSKIKQMTTD
LEIYNDLPAL KSSGEEKIKK LHQERMILST HRNAFKKIME KQNIEYEALK TQLQENETHS
QLTNLERKWQ HLEQNNFAMK EFIATKSQES DYQPIKKNVT KQIAEYNKTI VDALHSTSGN
*
mutated AA sequence MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
LSSQIKVAHR PVTQQGLTGM KTGTRGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QGEMNQKYKE
LKKREEHMDT FIETFEETKN QELKRKAQIE ANIVALLEHC SRNINRIEQI SSITNQELKM
MQDDLNFKST EVQKSQSTAQ NLTSDIQRLQ LDLQKMELLE SKMTEEQHSL KSKIKQMTTD
LEIYNDLPAL KSSGEEKIKK LHQERMILST HRNAFKKIME KQNIEYEALK TQLQENETHS
QLTNLERKWQ HLEQNNFAMK EFIATKSQES DYQPIKKNVT KQIAEYNKTI VDALHSTSGN
*
speed 0.78 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: 5.82503635345495e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:26978259A>GN/A show variant in all transcripts   IGV
HGNC symbol IFT74
Ensembl transcript ID ENST00000443698
Genbank transcript ID NM_001099222
UniProt peptide Q96LB3
alteration type single base exchange
alteration region CDS
DNA changes c.254A>G
cDNA.425A>G
g.31223A>G
AA changes K85R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs11555693
databasehomozygous (G/G)heterozygousallele carriers
1000G261650911
ExAC26041029312897
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)4.741
4.741
(flanking)4.741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost31224sequence motif lost- wt: AAAG|gtac
 mu: AGAG.gtac
Donor marginally increased31220wt: 0.9955 / mu: 0.9956 (marginal change - not scored)wt: TGGGACGAAAGGTAC
mu: TGGGACGAGAGGTAC		 GGAC|gaaa
Donor marginally decreased31224wt: 0.9364 / mu: 0.9019 (marginal change - not scored)wt: ACGAAAGGTACCTAT
mu: ACGAGAGGTACCTAT		 GAAA|ggta
Donor gained312170.97mu: AACTGGGACGAGAGG CTGG|gacg
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85QQGLTGMKTGTKGPQRQILDKSYY
mutated  all conserved    85QQGLTGMKTGTRGPQRQILDKSY
Ptroglodytes  all identical  ENSPTRG00000020833  85QQGLTGMKTGTKGPQRQILDKSY
Mmulatta  all identical  ENSMMUG00000006076  85QQGLTGMKTGMKGPQRQILDKSY
Fcatus  all identical  ENSFCAG00000002829  85QQGLSGMKTGMKGSQRQILDKSY
Mmusculus  all identical  ENSMUSG00000028576  85QQGLSGMKTGMKGPQRQILDKSY
Ggallus  all identical  ENSGALG00000001801  72LSGMKTGMKGPQRQIKDKTY
Trubripes  all identical  ENSTRUG00000017413  86QQGLSGMKTGMKGPQRQIQDKTY
Drerio  no alignment  ENSDARG00000023495  n/a
Dmelanogaster  no homologue    
Celegans  not conserved  C18H9.8  175QQGLRAPPSRMGT-GNSRQVFDKSY
Xtropicalis  all identical  ENSXETG00000009383  87QQGLSGMKTAMKGPQRQIMDKSY
protein features
start (aa)end (aa)featuredetails 
98482COILEDPotential.might get lost (downstream of altered splice site)
172172CONFLICTD -> G (in Ref. 2; BAB14650).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1803 / 1803
position (AA) of stopcodon in wt / mu AA sequence 601 / 601
position of stopcodon in wt / mu cDNA 1974 / 1974
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 172 / 172
chromosome 9
strand 1
last intron/exon boundary 1856
theoretical NMD boundary in CDS 1634
length of CDS 1803
coding sequence (CDS) position 254
cDNA position
(for ins/del: last normal base / first normal base)		 425
gDNA position
(for ins/del: last normal base / first normal base)		 31223
chromosomal position
(for ins/del: last normal base / first normal base)		 26978259
original gDNA sequence snippet TGGAATGAAAACTGGGACGAAAGGTACCTATTTTAAGATAA
altered gDNA sequence snippet TGGAATGAAAACTGGGACGAGAGGTACCTATTTTAAGATAA
original cDNA sequence snippet TGGAATGAAAACTGGGACGAAAGGTCCCCAGAGGCAAATTT
altered cDNA sequence snippet TGGAATGAAAACTGGGACGAGAGGTCCCCAGAGGCAAATTT
wildtype AA sequence MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
LSSQIKVAHR PVTQQGLTGM KTGTKGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QGEMNQKYKE
LKKREEHMDT FIETFEETKN QELKRKAQIE ANIVALLEHC SRNINRIEQI SSITNQELKM
MQDDLNFKST EVQKSQSTAQ NLTSDIQRLQ LDLQKMELLE SKMTEEQHSL KSKIKQMTTD
LEIYNDLPAL KSSGEEKIKK LHQERMILST HRNAFKKIME KQNIEYEALK TQLQENETHS
QLTNLERKWQ HLEQNNFAMK EFIATKSQES DYQPIKKNVT KQIAEYNKTI VDALHSTSGN
*
mutated AA sequence MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
LSSQIKVAHR PVTQQGLTGM KTGTRGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QGEMNQKYKE
LKKREEHMDT FIETFEETKN QELKRKAQIE ANIVALLEHC SRNINRIEQI SSITNQELKM
MQDDLNFKST EVQKSQSTAQ NLTSDIQRLQ LDLQKMELLE SKMTEEQHSL KSKIKQMTTD
LEIYNDLPAL KSSGEEKIKK LHQERMILST HRNAFKKIME KQNIEYEALK TQLQENETHS
QLTNLERKWQ HLEQNNFAMK EFIATKSQES DYQPIKKNVT KQIAEYNKTI VDALHSTSGN
*
speed 0.77 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