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: ENST00000274897
Querying Taster for transcript #2: ENST00000514921
Querying Taster for transcript #3: ENST00000370877
Querying Taster for transcript #4: ENST00000509997
MT speed 0 s - this script 4.354577 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MLIPpolymorphism_automatic0.000388670365096044simple_aaeaffectedR6Hsingle base exchangers17625497show file
MLIPpolymorphism_automatic0.000388670365096044simple_aaeaffectedR6Hsingle base exchangers17625497show file
MLIPpolymorphism_automatic0.000818860972958024simple_aaeaffectedR6Hsingle base exchangers17625497show file
MLIPpolymorphism_automatic0.000818860972958024simple_aaeaffectedR6Hsingle base exchangers17625497show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999611329634904 (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) chr6:53883843G>AN/A show variant in all transcripts   IGV
HGNC symbol MLIP
Ensembl transcript ID ENST00000370877
Genbank transcript ID N/A
UniProt peptide Q5VWP3
alteration type single base exchange
alteration region CDS
DNA changes c.17G>A
cDNA.119G>A
g.89064G>A
AA changes R6H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
6
frameshift no
known variant Reference ID: rs17625497
databasehomozygous (A/A)heterozygousallele carriers
1000G131725856
ExAC42412202226263
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8361
1.3211
(flanking)1.311
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased89065wt: 0.84 / mu: 0.95wt: AAGCGTGAAAAAAGA
mu: AAGCATGAAAAAAGA
 GCGT|gaaa
Donor marginally increased89067wt: 0.9668 / mu: 0.9820 (marginal change - not scored)wt: GCGTGAAAAAAGAAG
mu: GCATGAAAAAAGAAG
 GTGA|aaaa
Donor marginally increased89056wt: 0.9952 / mu: 0.9953 (marginal change - not scored)wt: GAACTTGAAAAGCGT
mu: GAACTTGAAAAGCAT
 ACTT|gaaa
distance from splice site 47
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      6 MELEKREKRSLLNKNLEE
mutated  not conserved    6 MELEKHEKRSLLNKNLEEKLTS
Ptroglodytes  all identical  ENSPTRG00000018294  6 MELEKREKRSLLNKNLEEKLMVSAGGSEAKPLIFTFVPTVRRLPTHTQLADTSKFLVKIP
Mmulatta  not conserved  ENSMMUG00000012781  6 MELEKHEKRSLLNKNLEEKLTVSAGGSEAKPLIFTFVPTVRRLPTHTQLTDTSKFLVKIP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032355  6 MEFGKHEPGSSLKRNKNLEEGVTF
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000089920  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
140REGIONInteraction with LMNA.lost
355355CONFLICTN -> T (in Ref. 3; AAH09010).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 807 / 807
position (AA) of stopcodon in wt / mu AA sequence 269 / 269
position of stopcodon in wt / mu cDNA 909 / 909
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 103 / 103
chromosome 6
strand 1
last intron/exon boundary 904
theoretical NMD boundary in CDS 751
length of CDS 807
coding sequence (CDS) position 17
cDNA position
(for ins/del: last normal base / first normal base)
119
gDNA position
(for ins/del: last normal base / first normal base)
89064
chromosomal position
(for ins/del: last normal base / first normal base)
53883843
original gDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered gDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
original cDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered cDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
wildtype AA sequence MELEKREKRS LLNKNLEEKL TSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE
ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS
DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQALDEPAKT ESVSKDNTLE PPVEHSSDSP
SRSPKTLLGS DTVKTPTTLP RAAGRETKYA NLSSPSSTVS ESQLTKPGVI RPVPVKSRIL
LKKEEEVYEP NPFSKYLEDN SDLFSEQQ*
mutated AA sequence MELEKHEKRS LLNKNLEEKL TSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE
ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS
DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQALDEPAKT ESVSKDNTLE PPVEHSSDSP
SRSPKTLLGS DTVKTPTTLP RAAGRETKYA NLSSPSSTVS ESQLTKPGVI RPVPVKSRIL
LKKEEEVYEP NPFSKYLEDN SDLFSEQQ*
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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999611329634904 (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) chr6:53883843G>AN/A show variant in all transcripts   IGV
HGNC symbol MLIP
Ensembl transcript ID ENST00000509997
Genbank transcript ID N/A
UniProt peptide Q5VWP3
alteration type single base exchange
alteration region CDS
DNA changes c.17G>A
cDNA.46G>A
g.89064G>A
AA changes R6H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
6
frameshift no
known variant Reference ID: rs17625497
databasehomozygous (A/A)heterozygousallele carriers
1000G131725856
ExAC42412202226263
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8361
1.3211
(flanking)1.311
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased89065wt: 0.84 / mu: 0.95wt: AAGCGTGAAAAAAGA
mu: AAGCATGAAAAAAGA
 GCGT|gaaa
Donor marginally increased89067wt: 0.9668 / mu: 0.9820 (marginal change - not scored)wt: GCGTGAAAAAAGAAG
mu: GCATGAAAAAAGAAG
 GTGA|aaaa
Donor marginally increased89056wt: 0.9952 / mu: 0.9953 (marginal change - not scored)wt: GAACTTGAAAAGCGT
mu: GAACTTGAAAAGCAT
 ACTT|gaaa
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      6 MELEKREKRSLLNKNLEE
mutated  not conserved    6 MELEKHEKRSLLNKNLEEKLTS
Ptroglodytes  all identical  ENSPTRG00000018294  6 MELEKREKRSLLNKNLEEKLMVSAGGSEAKPLIFTFVPTVRRLPTHTQLADTSKFLVKIP
Mmulatta  not conserved  ENSMMUG00000012781  6 MELEKHEKRSLLNKNLEEKLTVSAGGSEAKPLIFTFVPTVRRLPTHTQLTDTSKFLVKIP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032355  6 MEFGKHEPGSSLKRNKNLEEGVTF
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000089920  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
140REGIONInteraction with LMNA.lost
355355CONFLICTN -> T (in Ref. 3; AAH09010).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 681 / 681
position (AA) of stopcodon in wt / mu AA sequence 227 / 227
position of stopcodon in wt / mu cDNA 710 / 710
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 30 / 30
chromosome 6
strand 1
last intron/exon boundary 705
theoretical NMD boundary in CDS 625
length of CDS 681
coding sequence (CDS) position 17
cDNA position
(for ins/del: last normal base / first normal base)
46
gDNA position
(for ins/del: last normal base / first normal base)
89064
chromosomal position
(for ins/del: last normal base / first normal base)
53883843
original gDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered gDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
original cDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered cDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
wildtype AA sequence MELEKREKRS LLNKNLEEKL TSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE
ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS
DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQTPTTLPRA AGRETKYANL SSPSSTVSES
QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQQ*
mutated AA sequence MELEKHEKRS LLNKNLEEKL TSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE
ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS
DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQTPTTLPRA AGRETKYANL SSPSSTVSES
QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQQ*
speed 0.71 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: 0.999181139027042 (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) chr6:53883843G>AN/A show variant in all transcripts   IGV
HGNC symbol MLIP
Ensembl transcript ID ENST00000274897
Genbank transcript ID NM_138569
UniProt peptide Q5VWP3
alteration type single base exchange
alteration region CDS
DNA changes c.17G>A
cDNA.130G>A
g.89064G>A
AA changes R6H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
6
frameshift no
known variant Reference ID: rs17625497
databasehomozygous (A/A)heterozygousallele carriers
1000G131725856
ExAC42412202226263
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8361
1.3211
(flanking)1.311
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased89065wt: 0.84 / mu: 0.95wt: AAGCGTGAAAAAAGA
mu: AAGCATGAAAAAAGA
 GCGT|gaaa
Donor marginally increased89067wt: 0.9668 / mu: 0.9820 (marginal change - not scored)wt: GCGTGAAAAAAGAAG
mu: GCATGAAAAAAGAAG
 GTGA|aaaa
Donor marginally increased89056wt: 0.9952 / mu: 0.9953 (marginal change - not scored)wt: GAACTTGAAAAGCGT
mu: GAACTTGAAAAGCAT
 ACTT|gaaa
distance from splice site 47
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      6 MELEKREKRSLLNKNLEE
mutated  not conserved    6 MELEKHEKRSLLNKNLEEKLTV
Ptroglodytes  all identical  ENSPTRG00000018294  6 MELEKREKRSLLNKNLEEKLMV
Mmulatta  not conserved  ENSMMUG00000012781  6 MELEKHEKRSLLNKNLEEKLTV
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000032355  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000089920  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
140REGIONInteraction with LMNA.lost
355355CONFLICTN -> T (in Ref. 3; AAH09010).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1377 / 1377
position (AA) of stopcodon in wt / mu AA sequence 459 / 459
position of stopcodon in wt / mu cDNA 1490 / 1490
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 114 / 114
chromosome 6
strand 1
last intron/exon boundary 1485
theoretical NMD boundary in CDS 1321
length of CDS 1377
coding sequence (CDS) position 17
cDNA position
(for ins/del: last normal base / first normal base)
130
gDNA position
(for ins/del: last normal base / first normal base)
89064
chromosomal position
(for ins/del: last normal base / first normal base)
53883843
original gDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered gDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
original cDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered cDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
wildtype AA sequence MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQQYKTKS SYKAFAAIPT NTLLLEQKAL DEPAKTESVS
KDNTLEPPVE LYFPAQLRQQ TEELCATIDK VLQDSLSMHS SDSPSRSPKT LLGSDTVKTP
TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK SRILLKKEEE VYEPNPFSKY
LEDNSDLFSE QDVTVPPKPV SLHPLYQTKL YPPAKSLLHP QTLSHADCLA PGPFSHLSFS
LSDEQENSHT LLSHNACNKL SHPMVAIPEH EALDSKEQ*
mutated AA sequence MELEKHEKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQQYKTKS SYKAFAAIPT NTLLLEQKAL DEPAKTESVS
KDNTLEPPVE LYFPAQLRQQ TEELCATIDK VLQDSLSMHS SDSPSRSPKT LLGSDTVKTP
TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK SRILLKKEEE VYEPNPFSKY
LEDNSDLFSE QDVTVPPKPV SLHPLYQTKL YPPAKSLLHP QTLSHADCLA PGPFSHLSFS
LSDEQENSHT LLSHNACNKL SHPMVAIPEH EALDSKEQ*
speed 0.75 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: 0.999181139027042 (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) chr6:53883843G>AN/A show variant in all transcripts   IGV
HGNC symbol MLIP
Ensembl transcript ID ENST00000514921
Genbank transcript ID N/A
UniProt peptide Q5VWP3
alteration type single base exchange
alteration region CDS
DNA changes c.17G>A
cDNA.130G>A
g.89064G>A
AA changes R6H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
6
frameshift no
known variant Reference ID: rs17625497
databasehomozygous (A/A)heterozygousallele carriers
1000G131725856
ExAC42412202226263
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8361
1.3211
(flanking)1.311
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased89065wt: 0.84 / mu: 0.95wt: AAGCGTGAAAAAAGA
mu: AAGCATGAAAAAAGA
 GCGT|gaaa
Donor marginally increased89067wt: 0.9668 / mu: 0.9820 (marginal change - not scored)wt: GCGTGAAAAAAGAAG
mu: GCATGAAAAAAGAAG
 GTGA|aaaa
Donor marginally increased89056wt: 0.9952 / mu: 0.9953 (marginal change - not scored)wt: GAACTTGAAAAGCGT
mu: GAACTTGAAAAGCAT
 ACTT|gaaa
distance from splice site 47
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      6 MELEKREKRSLLNKNLEE
mutated  not conserved    6 MELEKHEKRSLLNKNLEEKLTV
Ptroglodytes  all identical  ENSPTRG00000018294  6 MELEKREKRSLLNKNLEEKLMV
Mmulatta  not conserved  ENSMMUG00000012781  6 MELEKHEKRSLLNKNLEEKLTV
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000032355  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000089920  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
140REGIONInteraction with LMNA.lost
355355CONFLICTN -> T (in Ref. 3; AAH09010).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2748 / 2748
position (AA) of stopcodon in wt / mu AA sequence 916 / 916
position of stopcodon in wt / mu cDNA 2861 / 2861
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 114 / 114
chromosome 6
strand 1
last intron/exon boundary 2799
theoretical NMD boundary in CDS 2635
length of CDS 2748
coding sequence (CDS) position 17
cDNA position
(for ins/del: last normal base / first normal base)
130
gDNA position
(for ins/del: last normal base / first normal base)
89064
chromosomal position
(for ins/del: last normal base / first normal base)
53883843
original gDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered gDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
original cDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered cDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
wildtype AA sequence MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQLTSSPT TSEQLACKPP AFSFVSPTNP NTPPDPVNLE
GASVLEEFHT RRLDVGGAVV EESATYFQTT AHSTPFSASK GTSSTLLFPH STQLSGSNLP
SSTAADPKPG LTSEVLKKTT LTSHVLSHGE SPRTSSSPPS SSASLKSNSA SYIPVRIVTH
SLSPSPKPFT SSFHGSSSTI CSQMSSSGNL SKSGVKSPVP SRLALLTAIL KSNPSHQRPF
SPASCPTFSL NSPASSTLTL DQKEKQTPPT PKKSLSSCSL RAGSPDQGEL QVSELTQQSF
HLPVFTKSTP LSQAPSLSPT KQASSSLASM NVERTPSPTL KSNTMLSLLQ TSTSSSVGLP
PVPPSSSLSS LKSKQDGDLR GPENPRNIHT YPSTLASSAL SSLSPPINQR ATFSSSEKCF
HPSPALSSLI NRSKRASSQL SGQELNPSAL PSLPVSSADF ASLPNLRSSS LPHANLPTLV
PQLSPSALHP HCGSGTLPSR LGKSESTTPN HRSPVSTPSL PISLTRTEEL ISPCALSMST
GPENKKSKQY KTKSSYKAFA AIPTNTLLLE QKALDEPAKT ESVSKDNTLE PPVELYFPAQ
LRQQTEELCA TIDKVLQDSL SMHSSDSPSR SPKTLLGSDT VKTPTTLPRA AGRETKYANL
SSPSSTVSES QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQAAHSV
DSYCNGSDTS GPWLL*
mutated AA sequence MELEKHEKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQLTSSPT TSEQLACKPP AFSFVSPTNP NTPPDPVNLE
GASVLEEFHT RRLDVGGAVV EESATYFQTT AHSTPFSASK GTSSTLLFPH STQLSGSNLP
SSTAADPKPG LTSEVLKKTT LTSHVLSHGE SPRTSSSPPS SSASLKSNSA SYIPVRIVTH
SLSPSPKPFT SSFHGSSSTI CSQMSSSGNL SKSGVKSPVP SRLALLTAIL KSNPSHQRPF
SPASCPTFSL NSPASSTLTL DQKEKQTPPT PKKSLSSCSL RAGSPDQGEL QVSELTQQSF
HLPVFTKSTP LSQAPSLSPT KQASSSLASM NVERTPSPTL KSNTMLSLLQ TSTSSSVGLP
PVPPSSSLSS LKSKQDGDLR GPENPRNIHT YPSTLASSAL SSLSPPINQR ATFSSSEKCF
HPSPALSSLI NRSKRASSQL SGQELNPSAL PSLPVSSADF ASLPNLRSSS LPHANLPTLV
PQLSPSALHP HCGSGTLPSR LGKSESTTPN HRSPVSTPSL PISLTRTEEL ISPCALSMST
GPENKKSKQY KTKSSYKAFA AIPTNTLLLE QKALDEPAKT ESVSKDNTLE PPVELYFPAQ
LRQQTEELCA TIDKVLQDSL SMHSSDSPSR SPKTLLGSDT VKTPTTLPRA AGRETKYANL
SSPSSTVSES QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQAAHSV
DSYCNGSDTS GPWLL*
speed 0.82 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems