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: ENST00000403729
Querying Taster for transcript #2: ENST00000404191
Querying Taster for transcript #3: ENST00000346652
Querying Taster for transcript #4: ENST00000307333
MT speed 0 s - this script 5.088494 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ANTXR2disease_causing_automatic0.999999407235841simple_aae0Y304Csingle base exchangers137852901show file
ANTXR2disease_causing_automatic0.999999407235841simple_aae0Y381Csingle base exchangers137852901show file
ANTXR2disease_causing_automatic0.999999407235841simple_aae0Y278Csingle base exchangers137852901show file
ANTXR2disease_causing_automatic0.999999407235841simple_aae0Y381Csingle base exchangers137852901show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999407235841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM033747)
  • known disease mutation: rs2599 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:80905069T>CN/A show variant in all transcripts   IGV
HGNC symbol ANTXR2
Ensembl transcript ID ENST00000404191
Genbank transcript ID N/A
UniProt peptide P58335
alteration type single base exchange
alteration region CDS
DNA changes c.911A>G
cDNA.1068A>G
g.141540A>G
AA changes Y304C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 304
frameshift no
known variant Reference ID: rs137852901
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2599 (pathogenic for Hyaline fibromatosis syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)

known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)
known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.130.997
4.8151
(flanking)4.8151
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 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      304TKKWPTVDASYYGGRGVGGIKRME
mutated  not conserved    304ASYCGGRGVGGIKRM
Ptroglodytes  all identical  ENSPTRG00000016207  381ASYYGGRGVGGIKRM
Mmulatta  all identical  ENSMMUG00000003333  105TKKWPTVDASYYGGRGVGGIKRM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000029338  381ASYYGGRGVGGIKRM
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000060520  372DASYYGGRGAGGIKRM
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000021531  380VDASYYGGRGVGGIKRM
protein features
start (aa)end (aa)featuredetails 
34318TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1236 / 1236
position (AA) of stopcodon in wt / mu AA sequence 412 / 412
position of stopcodon in wt / mu cDNA 1393 / 1393
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 158 / 158
chromosome 4
strand -1
last intron/exon boundary 1355
theoretical NMD boundary in CDS 1147
length of CDS 1236
coding sequence (CDS) position 911
cDNA position
(for ins/del: last normal base / first normal base)		 1068
gDNA position
(for ins/del: last normal base / first normal base)		 141540
chromosomal position
(for ins/del: last normal base / first normal base)		 80905069
original gDNA sequence snippet AACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAG
altered gDNA sequence snippet AACTGTGGATGCTTCCTATTGTGGTGGTCGAGGGGTTGGAG
original cDNA sequence snippet AACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAG
altered cDNA sequence snippet AACTGTGGATGCTTCCTATTGTGGTGGTCGAGGGGTTGGAG
wildtype AA sequence MRLSFIVFSS QATIILPLTG DRGKISKGLE DLKRVSPVGE TYIHEGLKLA NEQIQKAGGL
KTSSIIIALT DGKLDGLVPS YAEKEAKISR SLGASVYCVG VLDFEQAQLE RIADSKEQVF
PVKGGFQALK GIINSILAQS CTEILELQPS SVCVGEEFQI VLSGRGFMLG SRNGSVLCTY
TVNETYTTSV KPVSVQLNSM LCPAPILNKA GETLDVSVSF NGGKSVISGS LIVTATECSN
GIAAIIVILV LLLLLGIGLM WWFWPLCCKV VIKDPPPPPA PAPKEEEEEP LPTKKWPTVD
ASYYGGRGVG GIKRMEVRWG DKGSTEEGAR LEKAKNAVVK IPEETEEPIR PRPPRPKPTH
QPPQTKWYTP IKGRLDALWA LLRRQYDRVS LMRPQEGDEG RCINFSRVPS Q*
mutated AA sequence MRLSFIVFSS QATIILPLTG DRGKISKGLE DLKRVSPVGE TYIHEGLKLA NEQIQKAGGL
KTSSIIIALT DGKLDGLVPS YAEKEAKISR SLGASVYCVG VLDFEQAQLE RIADSKEQVF
PVKGGFQALK GIINSILAQS CTEILELQPS SVCVGEEFQI VLSGRGFMLG SRNGSVLCTY
TVNETYTTSV KPVSVQLNSM LCPAPILNKA GETLDVSVSF NGGKSVISGS LIVTATECSN
GIAAIIVILV LLLLLGIGLM WWFWPLCCKV VIKDPPPPPA PAPKEEEEEP LPTKKWPTVD
ASYCGGRGVG GIKRMEVRWG DKGSTEEGAR LEKAKNAVVK IPEETEEPIR PRPPRPKPTH
QPPQTKWYTP IKGRLDALWA LLRRQYDRVS LMRPQEGDEG RCINFSRVPS Q*
speed 1.01 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: 0.999999407235841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM033747)
  • known disease mutation: rs2599 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:80905069T>CN/A show variant in all transcripts   IGV
HGNC symbol ANTXR2
Ensembl transcript ID ENST00000403729
Genbank transcript ID NM_058172
UniProt peptide P58335
alteration type single base exchange
alteration region CDS
DNA changes c.1142A>G
cDNA.1668A>G
g.141540A>G
AA changes Y381C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 381
frameshift no
known variant Reference ID: rs137852901
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2599 (pathogenic for Hyaline fibromatosis syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)

known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)
known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.130.997
4.8151
(flanking)4.8151
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 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      381TKKWPTVDASYYGGRGVGGIKRME
mutated  not conserved    381TKKWPTVDASYCGGRGVGGIKRM
Ptroglodytes  all identical  ENSPTRG00000016207  381TKKWPTVDASYYGGRGVGGIKRM
Mmulatta  all identical  ENSMMUG00000003333  105TKKWPTVDASYYGGRGVGGIKRM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000029338  381NKKWPTVDASYYGGRGVGGIKRM
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000060520  371KKKWPTVDASYYGGRGAGGIKRM
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000021531  378SKKWPTVDASYYGGRGVGGIKRM
protein features
start (aa)end (aa)featuredetails 
342489TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1467 / 1467
position (AA) of stopcodon in wt / mu AA sequence 489 / 489
position of stopcodon in wt / mu cDNA 1993 / 1993
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 527 / 527
chromosome 4
strand -1
last intron/exon boundary 1955
theoretical NMD boundary in CDS 1378
length of CDS 1467
coding sequence (CDS) position 1142
cDNA position
(for ins/del: last normal base / first normal base)		 1668
gDNA position
(for ins/del: last normal base / first normal base)		 141540
chromosomal position
(for ins/del: last normal base / first normal base)		 80905069
original gDNA sequence snippet AACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAG
altered gDNA sequence snippet AACTGTGGATGCTTCCTATTGTGGTGGTCGAGGGGTTGGAG
original cDNA sequence snippet AACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAG
altered cDNA sequence snippet AACTGTGGATGCTTCCTATTGTGGTGGTCGAGGGGTTGGAG
wildtype AA sequence MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS
GRGFMLGSRN GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK DPPPPPAPAP
KEEEEEPLPT KKWPTVDASY YGGRGVGGIK RMEVRWGDKG STEEGARLEK AKNAVVKIPE
ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG RLDALWALLR RQYDRVSLMR PQEGDEGRCI
NFSRVPSQ*
mutated AA sequence MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS
GRGFMLGSRN GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK DPPPPPAPAP
KEEEEEPLPT KKWPTVDASY CGGRGVGGIK RMEVRWGDKG STEEGARLEK AKNAVVKIPE
ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG RLDALWALLR RQYDRVSLMR PQEGDEGRCI
NFSRVPSQ*
speed 0.88 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: 0.999999407235841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM033747)
  • known disease mutation: rs2599 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:80905069T>CN/A show variant in all transcripts   IGV
HGNC symbol ANTXR2
Ensembl transcript ID ENST00000346652
Genbank transcript ID N/A
UniProt peptide P58335
alteration type single base exchange
alteration region CDS
DNA changes c.833A>G
cDNA.973A>G
g.141540A>G
AA changes Y278C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 278
frameshift no
known variant Reference ID: rs137852901
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2599 (pathogenic for Hyaline fibromatosis syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)

known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)
known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.130.997
4.8151
(flanking)4.8151
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 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      278TKKWPTVDASYYGGRGVGGIKRME
mutated  not conserved    278TKKWPTVDASYCGGRGVGGIKRM
Ptroglodytes  all identical  ENSPTRG00000016207  381TKKWPTVDASYYGGRGVGGIKRM
Mmulatta  all identical  ENSMMUG00000003333  105TKKWPTVDASYYGGRGVGGIKRM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000029338  381NKKWPTVDASYYGGRGVGGIKRM
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000060520  372TVDASYYGGRGAGGIKRM
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000021531  380PTVDASYYGGRGVGGIKRM
protein features
start (aa)end (aa)featuredetails 
34318TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1161 / 1161
position (AA) of stopcodon in wt / mu AA sequence 387 / 387
position of stopcodon in wt / mu cDNA 1301 / 1301
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 141 / 141
chromosome 4
strand -1
last intron/exon boundary 1179
theoretical NMD boundary in CDS 988
length of CDS 1161
coding sequence (CDS) position 833
cDNA position
(for ins/del: last normal base / first normal base)		 973
gDNA position
(for ins/del: last normal base / first normal base)		 141540
chromosomal position
(for ins/del: last normal base / first normal base)		 80905069
original gDNA sequence snippet AACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAG
altered gDNA sequence snippet AACTGTGGATGCTTCCTATTGTGGTGGTCGAGGGGTTGGAG
original cDNA sequence snippet AACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAG
altered cDNA sequence snippet AACTGTGGATGCTTCCTATTGTGGTGGTCGAGGGGTTGGAG
wildtype AA sequence MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSSNGIAAII VILVLLLLLG IGLMWWFWPL
CCKVVIKDPP PPPAPAPKEE EEEPLPTKKW PTVDASYYGG RGVGGIKRME VRWGDKGSTE
EGARLEKAKN AVVKIPEETE EPIRPRPPRP KPTHQPPQTK WYTPIKGRLD ALWALLRRQY
DRVSLMRPQE GDEVCIWECI EKELTA*
mutated AA sequence MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSSNGIAAII VILVLLLLLG IGLMWWFWPL
CCKVVIKDPP PPPAPAPKEE EEEPLPTKKW PTVDASYCGG RGVGGIKRME VRWGDKGSTE
EGARLEKAKN AVVKIPEETE EPIRPRPPRP KPTHQPPQTK WYTPIKGRLD ALWALLRRQY
DRVSLMRPQE GDEVCIWECI EKELTA*
speed 1.15 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: 0.999999407235841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM033747)
  • known disease mutation: rs2599 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:80905069T>CN/A show variant in all transcripts   IGV
HGNC symbol ANTXR2
Ensembl transcript ID ENST00000307333
Genbank transcript ID NM_001145794
UniProt peptide P58335
alteration type single base exchange
alteration region CDS
DNA changes c.1142A>G
cDNA.1145A>G
g.141540A>G
AA changes Y381C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 381
frameshift no
known variant Reference ID: rs137852901
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2599 (pathogenic for Hyaline fibromatosis syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)

known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)
known disease mutation at this position, please check HGMD for details (HGMD ID CM033747)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.130.997
4.8151
(flanking)4.8151
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 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      381TKKWPTVDASYYGGRGVGGIKRME
mutated  not conserved    381TKKWPTVDASYCGGRGVGGIKRM
Ptroglodytes  all identical  ENSPTRG00000016207  381TKKWPTVDASYYGGRGVGGIKRM
Mmulatta  all identical  ENSMMUG00000003333  105TKKWPTVDASYYGGRGVGGIKRM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000029338  381NKKWPTVDASYYGGRGVGGIKRM
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000060520  371KKKWPTVDASYYGGRGAGGIKRM
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000021531  378SKKWPTVDASYYGGRGVGGIKRM
protein features
start (aa)end (aa)featuredetails 
342489TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1470 / 1470
position (AA) of stopcodon in wt / mu AA sequence 490 / 490
position of stopcodon in wt / mu cDNA 1473 / 1473
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 4 / 4
chromosome 4
strand -1
last intron/exon boundary 1351
theoretical NMD boundary in CDS 1297
length of CDS 1470
coding sequence (CDS) position 1142
cDNA position
(for ins/del: last normal base / first normal base)		 1145
gDNA position
(for ins/del: last normal base / first normal base)		 141540
chromosomal position
(for ins/del: last normal base / first normal base)		 80905069
original gDNA sequence snippet AACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAG
altered gDNA sequence snippet AACTGTGGATGCTTCCTATTGTGGTGGTCGAGGGGTTGGAG
original cDNA sequence snippet AACTGTGGATGCTTCCTATTATGGTGGTCGAGGGGTTGGAG
altered cDNA sequence snippet AACTGTGGATGCTTCCTATTGTGGTGGTCGAGGGGTTGGAG
wildtype AA sequence MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS
GRGFMLGSRN GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK DPPPPPAPAP
KEEEEEPLPT KKWPTVDASY YGGRGVGGIK RMEVRWGDKG STEEGARLEK AKNAVVKIPE
ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG RLDALWALLR RQYDRVSLMR PQEGDEVCIW
ECIEKELTA*
mutated AA sequence MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS
GRGFMLGSRN GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK DPPPPPAPAP
KEEEEEPLPT KKWPTVDASY CGGRGVGGIK RMEVRWGDKG STEEGARLEK AKNAVVKIPE
ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG RLDALWALLR RQYDRVSLMR PQEGDEVCIW
ECIEKELTA*
speed 0.87 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