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: ENST00000216361
Querying Taster for transcript #2: ENST00000396618
Querying Taster for transcript #3: ENST00000475087
Querying Taster for transcript #4: ENST00000460581
MT speed 0 s - this script 4.682615 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COCHdisease_causing0.989601651483823simple_aaeA7Tsingle base exchangers121908931show file
COCHdisease_causing0.998539373895732simple_aaeA119Tsingle base exchangers121908931show file
COCHdisease_causing0.998539373895732simple_aaeA119Tsingle base exchangers121908931show file
COCHdisease_causing0.998539373895732simple_aaeA119Tsingle base exchangers121908931show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.989601651483823      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032215)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:31348132G>AN/A show variant in all transcripts   IGV
HGNC symbol COCH
Ensembl transcript ID ENST00000460581
Genbank transcript ID N/A
UniProt peptide O43405
alteration type single base exchange
alteration region CDS
DNA changes c.19G>A
cDNA.565G>A
g.4413G>A
AA changes A7T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 7
frameshift no
known variant Reference ID: rs121908931
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4440.958
1.9510.998
(flanking)4.7581
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 increased4423wt: 0.7541 / mu: 0.7564 (marginal change - not scored)wt: TAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATT
mu: TAGATGGTCTACTTCTTTCACAGTAACTAGTAGGTATAATT		 tcac|AGTA
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      7 MLSRWSASFTVTKGKSSTQ
mutated  not conserved    7 MLSRWSTSFTVTKGKSSTQEAT
Ptroglodytes  all identical  ENSPTRG00000006237  119 MLSRWSASFTVTKGKSSTQEAT
Mmulatta  all identical  ENSMMUG00000011514  119 MLSRWSASFTVTKGKSSTQEAT
Fcatus  all identical  ENSFCAG00000011638  119 LSRWSASFTVTKGKSGTQEAT
Mmusculus  all identical  ENSMUSG00000020953  121 MLSRWSASFAVTKGKSSTQEAT
Ggallus  all conserved  ENSGALG00000009920  115 VLSRWASSFSVTPGTNNLALEAV
Trubripes  all conserved  ENSTRUG00000012079  112 LSHWSSSFSVTSRQNPFGPVQQTSCAF
Drerio  all identical  ENSDARG00000024032  118 LSQWSASFTVARTISLPLEVS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000014163  122 LSRWTSSFSVSKAVSRELEVS
protein features
start (aa)end (aa)featuredetails 
124SIGNALPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1317 / 1317
position (AA) of stopcodon in wt / mu AA sequence 439 / 439
position of stopcodon in wt / mu cDNA 1863 / 1863
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 547 / 547
chromosome 14
strand 1
last intron/exon boundary 1688
theoretical NMD boundary in CDS 1091
length of CDS 1317
coding sequence (CDS) position 19
cDNA position
(for ins/del: last normal base / first normal base)		 565
gDNA position
(for ins/del: last normal base / first normal base)		 4413
chromosomal position
(for ins/del: last normal base / first normal base)		 31348132
original gDNA sequence snippet AAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGT
altered gDNA sequence snippet AAATGCTTTCTAGATGGTCTACTTCTTTCACAGTAACTAGT
original cDNA sequence snippet AAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAAA
altered cDNA sequence snippet AAATGCTTTCTAGATGGTCTACTTCTTTCACAGTAACTAAA
wildtype AA sequence MLSRWSASFT VTKGKSSTQE ATGQAVSTAH PPTGKRLKKT PEKKTGNKDC KADIAFLIDG
SFNIGQRRFN LQKNFVGKVA LMLGIGTEGP HVGLVQASEH PKIEFYLKNF TSAKDVLFAI
KEVGFRGGNS NTGKALKHTA QKFFTVDAGV RKGIPKVVVV FIDGWPSDDI EEAGIVAREF
GVNVFIVSVA KPIPEELGMV QDVTFVDKAV CRNNGFFSYH MPNWFGTTKY VKPLVQKLCT
HEQMMCSKTC YNSVNIAFLI DGSSSVGDSN FRLMLEFVSN IAKTFEISDI GAKIAAVQFT
YDQRTEFSFT DYSTKENVLA VIRNIRYMSG GTATGDAISF TVRNVFGPIR ESPNKNFLVI
VTDGQSYDDV QGPAAAAHDA GITIFSVGVA WAPLDDLKDM ASKPKESHAF FTREFTGLEP
IVSDVIRGIC RDFLESQQ*
mutated AA sequence MLSRWSTSFT VTKGKSSTQE ATGQAVSTAH PPTGKRLKKT PEKKTGNKDC KADIAFLIDG
SFNIGQRRFN LQKNFVGKVA LMLGIGTEGP HVGLVQASEH PKIEFYLKNF TSAKDVLFAI
KEVGFRGGNS NTGKALKHTA QKFFTVDAGV RKGIPKVVVV FIDGWPSDDI EEAGIVAREF
GVNVFIVSVA KPIPEELGMV QDVTFVDKAV CRNNGFFSYH MPNWFGTTKY VKPLVQKLCT
HEQMMCSKTC YNSVNIAFLI DGSSSVGDSN FRLMLEFVSN IAKTFEISDI GAKIAAVQFT
YDQRTEFSFT DYSTKENVLA VIRNIRYMSG GTATGDAISF TVRNVFGPIR ESPNKNFLVI
VTDGQSYDDV QGPAAAAHDA GITIFSVGVA WAPLDDLKDM ASKPKESHAF FTREFTGLEP
IVSDVIRGIC RDFLESQQ*
speed 0.92 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: 0.998539373895732      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032215)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:31348132G>AN/A show variant in all transcripts   IGV
HGNC symbol COCH
Ensembl transcript ID ENST00000396618
Genbank transcript ID NM_001135058
UniProt peptide O43405
alteration type single base exchange
alteration region CDS
DNA changes c.355G>A
cDNA.411G>A
g.4413G>A
AA changes A119T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 119
frameshift no
known variant Reference ID: rs121908931
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4440.958
1.9510.998
(flanking)4.7581
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 increased4423wt: 0.7541 / mu: 0.7564 (marginal change - not scored)wt: TAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATT
mu: TAGATGGTCTACTTCTTTCACAGTAACTAGTAGGTATAATT		 tcac|AGTA
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      119GIQSQMLSRWSASFTVTKGKSSTQ
mutated  not conserved    119GIQSQMLSRWSTSFTVTKGKSST
Ptroglodytes  all identical  ENSPTRG00000006237  119GIQSQMLSRWSASFTVTKGKSST
Mmulatta  all identical  ENSMMUG00000011514  119GIQSQMLSRWSASFTVTKGKSST
Fcatus  all identical  ENSFCAG00000011638  119GIQSQTLSRWSASFTVTKGKSGT
Mmusculus  all identical  ENSMUSG00000020953  121ASFAVTKGKSST
Ggallus  all conserved  ENSGALG00000009920  115GIQSQVLSRWASSFSVTPGTNNL
Trubripes  all conserved  ENSTRUG00000012079  112GVQSQALSHWSSSFSVTSR
Drerio  all identical  ENSDARG00000024032  118GVQSQSLSQWSASFTVA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000014163  122GIQSQRLSRWTSSFSVSKAVSRE
protein features
start (aa)end (aa)featuredetails 
28121DOMAINLCCL.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1653 / 1653
position (AA) of stopcodon in wt / mu AA sequence 551 / 551
position of stopcodon in wt / mu cDNA 1709 / 1709
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 57 / 57
chromosome 14
strand 1
last intron/exon boundary 1534
theoretical NMD boundary in CDS 1427
length of CDS 1653
coding sequence (CDS) position 355
cDNA position
(for ins/del: last normal base / first normal base)		 411
gDNA position
(for ins/del: last normal base / first normal base)		 4413
chromosomal position
(for ins/del: last normal base / first normal base)		 31348132
original gDNA sequence snippet AAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGT
altered gDNA sequence snippet AAATGCTTTCTAGATGGTCTACTTCTTTCACAGTAACTAGT
original cDNA sequence snippet AAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAAA
altered cDNA sequence snippet AAATGCTTTCTAGATGGTCTACTTCTTTCACAGTAACTAAA
wildtype AA sequence MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS
VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSAS
FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR
FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG
NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK
TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS
FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD
DVQGPAAAAH DAGITIFSVG VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG
ICRDFLESQQ *
mutated AA sequence MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS
VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSTS
FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR
FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG
NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK
TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS
FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD
DVQGPAAAAH DAGITIFSVG VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG
ICRDFLESQQ *
speed 1.29 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: 0.998539373895732      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032215)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:31348132G>AN/A show variant in all transcripts   IGV
HGNC symbol COCH
Ensembl transcript ID ENST00000216361
Genbank transcript ID N/A
UniProt peptide O43405
alteration type single base exchange
alteration region CDS
DNA changes c.355G>A
cDNA.751G>A
g.4413G>A
AA changes A119T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 119
frameshift no
known variant Reference ID: rs121908931
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4440.958
1.9510.998
(flanking)4.7581
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 increased4423wt: 0.7541 / mu: 0.7564 (marginal change - not scored)wt: TAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATT
mu: TAGATGGTCTACTTCTTTCACAGTAACTAGTAGGTATAATT		 tcac|AGTA
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      119GIQSQMLSRWSASFTVTKGKSSTQ
mutated  not conserved    119GIQSQMLSRWSTSFTVTKGKSST
Ptroglodytes  all identical  ENSPTRG00000006237  119GIQSQMLSRWSASFTVTKGKSST
Mmulatta  all identical  ENSMMUG00000011514  119GIQSQMLSRWSASFTVTKGKSST
Fcatus  all identical  ENSFCAG00000011638  119GIQSQTLSRWSASFTVTKGKSGT
Mmusculus  all identical  ENSMUSG00000020953  121ASFAVTKGKSST
Ggallus  all conserved  ENSGALG00000009920  115GIQSQVLSRWASSFSVTPGTNNL
Trubripes  all conserved  ENSTRUG00000012079  112GVQSQALSHWSSSFSVTSR
Drerio  all identical  ENSDARG00000024032  118GVQSQSLSQWSASFTVA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000014163  122GIQSQRLSRWTSSFSVSKAVSRE
protein features
start (aa)end (aa)featuredetails 
28121DOMAINLCCL.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1653 / 1653
position (AA) of stopcodon in wt / mu AA sequence 551 / 551
position of stopcodon in wt / mu cDNA 2049 / 2049
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 397 / 397
chromosome 14
strand 1
last intron/exon boundary 1874
theoretical NMD boundary in CDS 1427
length of CDS 1653
coding sequence (CDS) position 355
cDNA position
(for ins/del: last normal base / first normal base)		 751
gDNA position
(for ins/del: last normal base / first normal base)		 4413
chromosomal position
(for ins/del: last normal base / first normal base)		 31348132
original gDNA sequence snippet AAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGT
altered gDNA sequence snippet AAATGCTTTCTAGATGGTCTACTTCTTTCACAGTAACTAGT
original cDNA sequence snippet AAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAAA
altered cDNA sequence snippet AAATGCTTTCTAGATGGTCTACTTCTTTCACAGTAACTAAA
wildtype AA sequence MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS
VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSAS
FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR
FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG
NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK
TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS
FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD
DVQGPAAAAH DAGITIFSVG VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG
ICRDFLESQQ *
mutated AA sequence MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS
VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSTS
FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR
FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG
NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK
TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS
FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD
DVQGPAAAAH DAGITIFSVG VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG
ICRDFLESQQ *
speed 1.30 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: 0.998539373895732      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032215)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:31348132G>AN/A show variant in all transcripts   IGV
HGNC symbol COCH
Ensembl transcript ID ENST00000475087
Genbank transcript ID N/A
UniProt peptide O43405
alteration type single base exchange
alteration region CDS
DNA changes c.355G>A
cDNA.722G>A
g.4413G>A
AA changes A119T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 119
frameshift no
known variant Reference ID: rs121908931
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032215)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4440.958
1.9510.998
(flanking)4.7581
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 increased4423wt: 0.7541 / mu: 0.7564 (marginal change - not scored)wt: TAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATT
mu: TAGATGGTCTACTTCTTTCACAGTAACTAGTAGGTATAATT		 tcac|AGTA
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      119GIQSQMLSRWSASFTVTKGKSSTQ
mutated  not conserved    119GIQSQMLSRWSTSFTVTKGKSST
Ptroglodytes  all identical  ENSPTRG00000006237  119GIQSQMLSRWSASFTVTKGKSST
Mmulatta  all identical  ENSMMUG00000011514  119GIQSQMLSRWSASFTVTKGKSST
Fcatus  all identical  ENSFCAG00000011638  119GIQSQTLSRWSASFTVTKGKSGT
Mmusculus  all identical  ENSMUSG00000020953  121ASFAVTKGKSST
Ggallus  all conserved  ENSGALG00000009920  115GIQSQVLSRWASSFSVTPGTNNL
Trubripes  all conserved  ENSTRUG00000012079  112GVQSQALSHWSSSFSVTSR
Drerio  all identical  ENSDARG00000024032  118GVQSQSLSQWSASFTVA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000014163  122GIQSQRLSRWTSSFSVSKAVSRE
protein features
start (aa)end (aa)featuredetails 
28121DOMAINLCCL.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1485 / 1485
position (AA) of stopcodon in wt / mu AA sequence 495 / 495
position of stopcodon in wt / mu cDNA 1852 / 1852
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 368 / 368
chromosome 14
strand 1
last intron/exon boundary 1845
theoretical NMD boundary in CDS 1427
length of CDS 1485
coding sequence (CDS) position 355
cDNA position
(for ins/del: last normal base / first normal base)		 722
gDNA position
(for ins/del: last normal base / first normal base)		 4413
chromosomal position
(for ins/del: last normal base / first normal base)		 31348132
original gDNA sequence snippet AAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGT
altered gDNA sequence snippet AAATGCTTTCTAGATGGTCTACTTCTTTCACAGTAACTAGT
original cDNA sequence snippet AAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAAA
altered cDNA sequence snippet AAATGCTTTCTAGATGGTCTACTTCTTTCACAGTAACTAAA
wildtype AA sequence MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS
VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSAS
FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR
FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG
NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK
TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS
FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD
DVQGPAAAAH DAAK*
mutated AA sequence MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS
VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSTS
FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR
FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG
NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK
TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS
FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD
DVQGPAAAAH DAAK*
speed 0.39 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
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Problems