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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000339686
Querying Taster for transcript #2: ENST00000429837
Querying Taster for transcript #3: ENST00000419602
Querying Taster for transcript #4: ENST00000447113
Querying Taster for transcript #5: ENST00000418261
Querying Taster for transcript #6: ENST00000424570
Querying Taster for transcript #7: ENST00000451297
Querying Taster for transcript #8: ENST00000440396
MT speed 0 s - this script 7.633404 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DMKNpolymorphism_automatic4.9960036108132e-15simple_aaeE69Dsingle base exchangers12460932show file
DMKNpolymorphism_automatic4.9960036108132e-15simple_aaeE69Dsingle base exchangers12460932show file
DMKNpolymorphism_automatic4.9960036108132e-15simple_aaeE69Dsingle base exchangers12460932show file
DMKNpolymorphism_automatic4.9960036108132e-15simple_aaeE69Dsingle base exchangers12460932show file
DMKNpolymorphism_automatic4.9960036108132e-15simple_aaeE69Dsingle base exchangers12460932show file
DMKNpolymorphism_automatic4.9960036108132e-15simple_aaeE69Dsingle base exchangers12460932show file
DMKNpolymorphism_automatic4.9960036108132e-15simple_aaeE69Dsingle base exchangers12460932show file
DMKNpolymorphism_automatic4.9960036108132e-15simple_aaeE69Dsingle base exchangers12460932show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36004171C>AN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000339686
Genbank transcript ID NM_033317
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.207G>T
cDNA.384G>T
g.390G>T
AA changes E69D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs12460932
databasehomozygous (A/A)heterozygousallele carriers
1000G27810291307
ExAC40542011224166
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4560.001
-1.1230
(flanking)-0.0420
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased381wt: 0.8026 / mu: 0.8563 (marginal change - not scored)wt: TCTAAAGTCAGTGAG
mu: TCTAAAGTCAGTGAT		 TAAA|gtca
Donor marginally increased385wt: 0.9981 / mu: 0.9990 (marginal change - not scored)wt: AAGTCAGTGAGGCCC
mu: AAGTCAGTGATGCCC		 GTCA|gtga
distance from splice site 220
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69EAGGAAGSKVSEALGQGTREAVGT
mutated  all conserved    69GAAGSKVSDALGQGTREAVG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000019064  52---------------REAVG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  65EAASSGIQNALGQGHGEEGG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0034011  n/a
Celegans  not conserved  T17H7.1  313GGRGGRGQGPDFGPGGQGGRG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1431 / 1431
position (AA) of stopcodon in wt / mu AA sequence 477 / 477
position of stopcodon in wt / mu cDNA 1608 / 1608
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 178 / 178
chromosome 19
strand -1
last intron/exon boundary 1609
theoretical NMD boundary in CDS 1381
length of CDS 1431
coding sequence (CDS) position 207
cDNA position
(for ins/del: last normal base / first normal base)		 384
gDNA position
(for ins/del: last normal base / first normal base)		 390
chromosomal position
(for ins/del: last normal base / first normal base)		 36004171
original gDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered gDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
original cDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered cDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKNQ VPPPSTRALL YFSRLWEDFK QNTPFLNWKA IIEGADASSL
QKRAGRDDQN YNYNQHAYPT AYGGKYSVKT PAKGGVSPSS SASRVQPGLL QWVKFW*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSDA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKNQ VPPPSTRALL YFSRLWEDFK QNTPFLNWKA IIEGADASSL
QKRAGRDDQN YNYNQHAYPT AYGGKYSVKT PAKGGVSPSS SASRVQPGLL QWVKFW*
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

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36004171C>AN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000429837
Genbank transcript ID NM_001190347
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.207G>T
cDNA.213G>T
g.390G>T
AA changes E69D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs12460932
databasehomozygous (A/A)heterozygousallele carriers
1000G27810291307
ExAC40542011224166
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4560.001
-1.1230
(flanking)-0.0420
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased381wt: 0.8026 / mu: 0.8563 (marginal change - not scored)wt: TCTAAAGTCAGTGAG
mu: TCTAAAGTCAGTGAT		 TAAA|gtca
Donor marginally increased385wt: 0.9981 / mu: 0.9990 (marginal change - not scored)wt: AAGTCAGTGAGGCCC
mu: AAGTCAGTGATGCCC		 GTCA|gtga
distance from splice site 213
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69EAGGAAGSKVSEALGQGTREAVGT
mutated  all conserved    69GAAGSKVSDALGQGTREAVG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000019064  52---------------REAVG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  65EAASSGIQNALGQGHGEEGG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0034011  n/a
Celegans  not conserved  T17H7.1  313GGRGGRGQGPDFGPGGQGGRG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1350 / 1350
position (AA) of stopcodon in wt / mu AA sequence 450 / 450
position of stopcodon in wt / mu cDNA 1356 / 1356
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 7 / 7
chromosome 19
strand -1
last intron/exon boundary 1357
theoretical NMD boundary in CDS 1300
length of CDS 1350
coding sequence (CDS) position 207
cDNA position
(for ins/del: last normal base / first normal base)		 213
gDNA position
(for ins/del: last normal base / first normal base)		 390
chromosomal position
(for ins/del: last normal base / first normal base)		 36004171
original gDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered gDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
original cDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered cDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGSSTG SSSGNHGGSG GGNGHKPGCE KPGNEARGSG ESGIQGQGSS WGSGGGDAVG
GVNTVNSETS PGMFNFDTFW KNFKSKLGFI NWDAINKNQV PPPSTRALLY FSRLWEDFKQ
NTPFLNWKAI IEGADASSLQ KRAGRDDQPG AGWQEVAAVT SKNYNYNQHA YPTAYGGKYS
VKTPAKGGVS PSSSASRVQP GLLQWVKFW*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSDA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGSSTG SSSGNHGGSG GGNGHKPGCE KPGNEARGSG ESGIQGQGSS WGSGGGDAVG
GVNTVNSETS PGMFNFDTFW KNFKSKLGFI NWDAINKNQV PPPSTRALLY FSRLWEDFKQ
NTPFLNWKAI IEGADASSLQ KRAGRDDQPG AGWQEVAAVT SKNYNYNQHA YPTAYGGKYS
VKTPAKGGVS PSSSASRVQP GLLQWVKFW*
speed 1.39 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36004171C>AN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000419602
Genbank transcript ID NM_001126056
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.207G>T
cDNA.214G>T
g.390G>T
AA changes E69D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs12460932
databasehomozygous (A/A)heterozygousallele carriers
1000G27810291307
ExAC40542011224166
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4560.001
-1.1230
(flanking)-0.0420
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased381wt: 0.8026 / mu: 0.8563 (marginal change - not scored)wt: TCTAAAGTCAGTGAG
mu: TCTAAAGTCAGTGAT		 TAAA|gtca
Donor marginally increased385wt: 0.9981 / mu: 0.9990 (marginal change - not scored)wt: AAGTCAGTGAGGCCC
mu: AAGTCAGTGATGCCC		 GTCA|gtga
distance from splice site 214
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69EAGGAAGSKVSEALGQGTREAVGT
mutated  all conserved    69GAAGSKVSDALGQGTREAVG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000019064  52---------------REAVG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  65EAASSGIQNALGQGHGEEGG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0034011  n/a
Celegans  not conserved  T17H7.1  313GGRGGRGQGPDFGPGGQGGRG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1398 / 1398
position (AA) of stopcodon in wt / mu AA sequence 466 / 466
position of stopcodon in wt / mu cDNA 1405 / 1405
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 8 / 8
chromosome 19
strand -1
last intron/exon boundary 1406
theoretical NMD boundary in CDS 1348
length of CDS 1398
coding sequence (CDS) position 207
cDNA position
(for ins/del: last normal base / first normal base)		 214
gDNA position
(for ins/del: last normal base / first normal base)		 390
chromosomal position
(for ins/del: last normal base / first normal base)		 36004171
original gDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered gDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
original cDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered cDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGSSTG SSSGNHGGSG GGNGHKPGCE KPGNEARGSG ESGIQGFRGQ GVSSNMREIS
KEGNRLLGGS GDNYRGQGSS WGSGGGDAVG GVNTVNSETS PGMFNFDTFW KNFKSKLGFI
NWDAINKNQV PPPSTRALLY FSRLWEDFKQ NTPFLNWKAI IEGADASSLQ KRAGRDDQNY
NYNQHAYPTA YGGKYSVKTP AKGGVSPSSS ASRVQPGLLQ WVKFW*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSDA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGSSTG SSSGNHGGSG GGNGHKPGCE KPGNEARGSG ESGIQGFRGQ GVSSNMREIS
KEGNRLLGGS GDNYRGQGSS WGSGGGDAVG GVNTVNSETS PGMFNFDTFW KNFKSKLGFI
NWDAINKNQV PPPSTRALLY FSRLWEDFKQ NTPFLNWKAI IEGADASSLQ KRAGRDDQNY
NYNQHAYPTA YGGKYSVKTP AKGGVSPSSS ASRVQPGLLQ WVKFW*
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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36004171C>AN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000447113
Genbank transcript ID NM_001190348
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.207G>T
cDNA.390G>T
g.390G>T
AA changes E69D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs12460932
databasehomozygous (A/A)heterozygousallele carriers
1000G27810291307
ExAC40542011224166
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4560.001
-1.1230
(flanking)-0.0420
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased381wt: 0.8026 / mu: 0.8563 (marginal change - not scored)wt: TCTAAAGTCAGTGAG
mu: TCTAAAGTCAGTGAT		 TAAA|gtca
Donor marginally increased385wt: 0.9981 / mu: 0.9990 (marginal change - not scored)wt: AAGTCAGTGAGGCCC
mu: AAGTCAGTGATGCCC		 GTCA|gtga
distance from splice site 220
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69EAGGAAGSKVSEALGQGTREAVGT
mutated  all conserved    69GAAGSKVSDALGQGTREAVG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000019064  52---------------REAVG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  65EAASSGIQNALGQGHGEEGG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0034011  n/a
Celegans  not conserved  T17H7.1  313GGRGGRGQGPDFGPGGQGGRG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1311 / 1311
position (AA) of stopcodon in wt / mu AA sequence 437 / 437
position of stopcodon in wt / mu cDNA 1494 / 1494
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 184 / 184
chromosome 19
strand -1
last intron/exon boundary 1468
theoretical NMD boundary in CDS 1234
length of CDS 1311
coding sequence (CDS) position 207
cDNA position
(for ins/del: last normal base / first normal base)		 390
gDNA position
(for ins/del: last normal base / first normal base)		 390
chromosomal position
(for ins/del: last normal base / first normal base)		 36004171
original gDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered gDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
original cDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered cDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMREI
SKEGNRLLGG SGDNYRGQGS SWGSGGGDAV GGVNTVNSET SPGMFNFDTF WKNFKSKLGF
INWDAINKDQ RSSRIP*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSDA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMREI
SKEGNRLLGG SGDNYRGQGS SWGSGGGDAV GGVNTVNSET SPGMFNFDTF WKNFKSKLGF
INWDAINKDQ RSSRIP*
speed 1.12 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: 0.999999999999995 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36004171C>AN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000424570
Genbank transcript ID NM_001126057
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.207G>T
cDNA.213G>T
g.390G>T
AA changes E69D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs12460932
databasehomozygous (A/A)heterozygousallele carriers
1000G27810291307
ExAC40542011224166
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4560.001
-1.1230
(flanking)-0.0420
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased381wt: 0.8026 / mu: 0.8563 (marginal change - not scored)wt: TCTAAAGTCAGTGAG
mu: TCTAAAGTCAGTGAT		 TAAA|gtca
Donor marginally increased385wt: 0.9981 / mu: 0.9990 (marginal change - not scored)wt: AAGTCAGTGAGGCCC
mu: AAGTCAGTGATGCCC		 GTCA|gtga
distance from splice site 213
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69EAGGAAGSKVSEALGQGTREAVGT
mutated  all conserved    69GAAGSKVSDALGQGTREAVG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000019064  52---------------REAVG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  65EAASSGIQNALGQGHGEEGG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0034011  n/a
Celegans  not conserved  T17H7.1  313GGRGGRGQGPDFGPGGQGGRG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1197 / 1197
position (AA) of stopcodon in wt / mu AA sequence 399 / 399
position of stopcodon in wt / mu cDNA 1203 / 1203
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 7 / 7
chromosome 19
strand -1
last intron/exon boundary 1177
theoretical NMD boundary in CDS 1120
length of CDS 1197
coding sequence (CDS) position 207
cDNA position
(for ins/del: last normal base / first normal base)		 213
gDNA position
(for ins/del: last normal base / first normal base)		 390
chromosomal position
(for ins/del: last normal base / first normal base)		 36004171
original gDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered gDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
original cDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered cDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMRNS
ETSPGMFNFD TFWKNFKSKL GFINWDAINK DQRSSRIP*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSDA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMRNS
ETSPGMFNFD TFWKNFKSKL GFINWDAINK DQRSSRIP*
speed 1.11 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: 0.999999999999995 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36004171C>AN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000418261
Genbank transcript ID NM_001126058
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.207G>T
cDNA.213G>T
g.390G>T
AA changes E69D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs12460932
databasehomozygous (A/A)heterozygousallele carriers
1000G27810291307
ExAC40542011224166
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4560.001
-1.1230
(flanking)-0.0420
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased381wt: 0.8026 / mu: 0.8563 (marginal change - not scored)wt: TCTAAAGTCAGTGAG
mu: TCTAAAGTCAGTGAT		 TAAA|gtca
Donor marginally increased385wt: 0.9981 / mu: 0.9990 (marginal change - not scored)wt: AAGTCAGTGAGGCCC
mu: AAGTCAGTGATGCCC		 GTCA|gtga
distance from splice site 213
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69EAGGAAGSKVSEALGQGTREAVGT
mutated  all conserved    69GAAGSKVSDALGQGTREAVG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000019064  52---------------REAVG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  65EAASSGIQNALGQGHGEEGG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0034011  n/a
Celegans  not conserved  T17H7.1  313GGRGGRGQGPDFGPGGQGGRG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.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 1167 / 1167
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 7 / 7
chromosome 19
strand -1
last intron/exon boundary 1141
theoretical NMD boundary in CDS 1084
length of CDS 1161
coding sequence (CDS) position 207
cDNA position
(for ins/del: last normal base / first normal base)		 213
gDNA position
(for ins/del: last normal base / first normal base)		 390
chromosomal position
(for ins/del: last normal base / first normal base)		 36004171
original gDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered gDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
original cDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered cDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKDQ RSSRIP*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSDA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKDQ RSSRIP*
speed 1.16 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: 0.999999999999995 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36004171C>AN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000451297
Genbank transcript ID NM_001190349
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.207G>T
cDNA.207G>T
g.390G>T
AA changes E69D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs12460932
databasehomozygous (A/A)heterozygousallele carriers
1000G27810291307
ExAC40542011224166
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4560.001
-1.1230
(flanking)-0.0420
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased381wt: 0.8026 / mu: 0.8563 (marginal change - not scored)wt: TCTAAAGTCAGTGAG
mu: TCTAAAGTCAGTGAT		 TAAA|gtca
Donor marginally increased385wt: 0.9981 / mu: 0.9990 (marginal change - not scored)wt: AAGTCAGTGAGGCCC
mu: AAGTCAGTGATGCCC		 GTCA|gtga
distance from splice site 207
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69EAGGAAGSKVSEALGQGTREAVGT
mutated  all conserved    69GAAGSKVSDALGQGTREAVG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000019064  52---------------REAVG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  65EAASSGIQNALGQGHGEEGG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0034011  n/a
Celegans  not conserved  T17H7.1  313GGRGGRGQGPDFGPGGQGGRG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1110 / 1110
position (AA) of stopcodon in wt / mu AA sequence 370 / 370
position of stopcodon in wt / mu cDNA 1110 / 1110
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 1 / 1
chromosome 19
strand -1
last intron/exon boundary 1084
theoretical NMD boundary in CDS 1033
length of CDS 1110
coding sequence (CDS) position 207
cDNA position
(for ins/del: last normal base / first normal base)		 207
gDNA position
(for ins/del: last normal base / first normal base)		 390
chromosomal position
(for ins/del: last normal base / first normal base)		 36004171
original gDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered gDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
original cDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered cDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGN SETSPGMFNF DTFWKNFKSK LGFINWDAIN
KDQRSSRIP*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSDA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGN SETSPGMFNF DTFWKNFKSK LGFINWDAIN
KDQRSSRIP*
speed 1.02 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: 0.999999999999995 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36004171C>AN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000440396
Genbank transcript ID N/A
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.207G>T
cDNA.390G>T
g.390G>T
AA changes E69D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs12460932
databasehomozygous (A/A)heterozygousallele carriers
1000G27810291307
ExAC40542011224166
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4560.001
-1.1230
(flanking)-0.0420
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased381wt: 0.8026 / mu: 0.8563 (marginal change - not scored)wt: TCTAAAGTCAGTGAG
mu: TCTAAAGTCAGTGAT		 TAAA|gtca
Donor marginally increased385wt: 0.9981 / mu: 0.9990 (marginal change - not scored)wt: AAGTCAGTGAGGCCC
mu: AAGTCAGTGATGCCC		 GTCA|gtga
distance from splice site 220
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69EAGGAAGSKVSEALGQGTREAVGT
mutated  all conserved    69GAAGSKVSDALGQGTREAVG
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000019064  52---------------REAVG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  65EAASSGIQNALGQGHGEEGG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0034011  n/a
Celegans  not conserved  T17H7.1  313GGRGGRGQGPDFGPGGQGGRG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1251 / 1251
position (AA) of stopcodon in wt / mu AA sequence 417 / 417
position of stopcodon in wt / mu cDNA 1434 / 1434
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 184 / 184
chromosome 19
strand -1
last intron/exon boundary 1408
theoretical NMD boundary in CDS 1174
length of CDS 1251
coding sequence (CDS) position 207
cDNA position
(for ins/del: last normal base / first normal base)		 390
gDNA position
(for ins/del: last normal base / first normal base)		 390
chromosomal position
(for ins/del: last normal base / first normal base)		 36004171
original gDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered gDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
original cDNA sequence snippet GCTGGCTCTAAAGTCAGTGAGGCCCTTGGCCAAGGGACCAG
altered cDNA sequence snippet GCTGGCTCTAAAGTCAGTGATGCCCTTGGCCAAGGGACCAG
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMREI
SKEGNRLLGG SGDNYRNSET SPGMFNFDTF WKNFKSKLGF INWDAINKDQ RSSRIP*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSDA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQGFRG QGVSSNMREI
SKEGNRLLGG SGDNYRNSET SPGMFNFDTF WKNFKSKLGF INWDAINKDQ RSSRIP*
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

Problems