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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000264229
Querying Taster for transcript #2: ENST00000504228
Querying Taster for transcript #3: ENST00000541073
MT speed 0 s - this script 4.583944 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CRACDpolymorphism_automatic1.86809456792503e-11simple_aaeL269Isingle base exchangers6823339show file
CRACDpolymorphism_automatic1.86809456792503e-11simple_aaeL269Isingle base exchangers6823339show file
CRACDpolymorphism_automatic1.86809456792503e-11simple_aaeL262Isingle base exchangers6823339show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999981319 (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) chr4:57180473C>AN/A show variant in all transcripts   IGV
HGNC symbol CRACD
Ensembl transcript ID ENST00000264229
Genbank transcript ID N/A
UniProt peptide Q6ZU35
alteration type single base exchange
alteration region CDS
DNA changes c.805C>A
cDNA.1196C>A
g.144113C>A
AA changes L269I Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS
269
frameshift no
known variant Reference ID: rs6823339
databasehomozygous (A/A)heterozygousallele carriers
1000G2589561214
ExAC164751576804
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4820.054
0.1960.042
(flanking)1.230.044
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 268
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      269RRLWEENRRQELLEEEGEGQEPPL
mutated  all conserved    269RRLWEENRRQEILEEEGEGQEPP
Ptroglodytes  all identical  ENSPTRG00000016078  269RRLWEENRRQELLEEEGEGQEPP
Mmulatta  all identical  ENSMMUG00000016358  269RRLWEENRRQELLEEEGEGQEPP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000036377  269RRLWEESLRQELLEEEEEGEEEEEVKEEGEEGEEVGLQPRAGK
Ggallus  not conserved  ENSGALG00000013771  268EQMKKEQERRD--SEKKEQQRPE
Trubripes  not conserved  ENSTRUG00000015704  237---------DECLES--------
Drerio  not conserved  ENSDARG00000011602  230RRFTQEFHEDDFSEIQEEFEKDEEV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
209529COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3702 / 3702
position (AA) of stopcodon in wt / mu AA sequence 1234 / 1234
position of stopcodon in wt / mu cDNA 4093 / 4093
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 392 / 392
chromosome 4
strand 1
last intron/exon boundary 3933
theoretical NMD boundary in CDS 3491
length of CDS 3702
coding sequence (CDS) position 805
cDNA position
(for ins/del: last normal base / first normal base)
1196
gDNA position
(for ins/del: last normal base / first normal base)
144113
chromosomal position
(for ins/del: last normal base / first normal base)
57180473
original gDNA sequence snippet AAGAGAACAGAAGGCAGGAGCTCTTGGAGGAGGAGGGCGAG
altered gDNA sequence snippet AAGAGAACAGAAGGCAGGAGATCTTGGAGGAGGAGGGCGAG
original cDNA sequence snippet AAGAGAACAGAAGGCAGGAGCTCTTGGAGGAGGAGGGCGAG
altered cDNA sequence snippet AAGAGAACAGAAGGCAGGAGATCTTGGAGGAGGAGGGCGAG
wildtype AA sequence MGTRAFSHDS IFIPDGGAES EQTVQAMSQD NILGKVKTLQ QQLGKNIKFG QRSPNAIPMN
KANSGEASLE EDLFLTSPME IVTQQDIVLS DAENKSSDTP SSLSPLNLPG AGSEMEEKVA
PVKPSRPKRH FSSAGTIESV NLDAIPLAIA RLDNSAAKHK LAVKPKKQRV SKKHRRLAQD
PQHEQGGLES RPCLDQNGHP GEDKPTWHEE EPNPLDSEEE RRRQEDYWRE LEAKCKRQKA
EAAEKRRLEE QRLQALERRL WEENRRQELL EEEGEGQEPP LEAERAPREE QQRSLEAPGW
EDAERREREE RERLEAEEER RRLQAQAQAE ERRRLEEDAR LEERRRQEEE EGRCAEELKR
QEEEEAEGWE ELEQQEAEVQ GPPEALEETG EGRRGAEEED LGEEEEEGQA HLEDWRGQLS
ELLNDFEERL EDQERLKPEG QREHSEEPGI CEEQNPEAER RREQQGRSGD FQGADRPGPE
EKREEGDTEP LLKQEGPVEA AQPPVERKEA AALEQGRKVE ELRWQEVDER QTMPRPYTFQ
VSSGGKQILF PKVNLSPVTP AKDTGLTAAP QEPKAPKASP VQHALPSSLS VPHTAILVTG
AQLCGPAVNL SQIKDTACKS LLGLEEKKHA EAPAGENPPR GPGDARAGSG KAKPRQESPS
SASALAEWAS IRSRILKNAE SDPRSSERDQ LRPGDESTPR GRCDSRGNQR KTPPVNAKFS
IMPAWQKFSD GGTETSKQST EAESIRKRPM LGPSEETAPQ PPPAGVRELG KGPEKSEMHR
EPADTTEGCK FAKDLPSFLV PSLPYPPQKV VAHTEFTTSS DSETANGIAK PDPVMPGGEE
KASPFGIKLR RTNYSLRFNC DQQAEQKKKK RHSSTGDSAD AGPPAAGSAR GEKEMEGVAL
KHGPSLPQER KQAPSTRRDS AEPSSSRSVP VAHPGPPPAS SQTPAPEHDK AANKMPLAQK
PALAPKPTSQ TPPASPLSKL SRPYLVELLS RRAGRPDPEP SEPSKEDQES SDRRPPSPPG
PEERKGQKRD EEEEATERKP ASPPLPATQQ EKPSQTPEAG RKEKPMLQSR HSLDGSKLTE
KVETAQPLWI TLALQKQKGF REQQATREER KQAREAKQAE KLSKENVSVS VQPGSSSVSR
AGSLHKSTAL PEEKRPETAV SRLERREQLK KANTLPTSVT VEISDSAPPA PLVKEVTKRF
STPDAAPVST EPAWLALAKR KAKAWSDCPQ IIK*
mutated AA sequence MGTRAFSHDS IFIPDGGAES EQTVQAMSQD NILGKVKTLQ QQLGKNIKFG QRSPNAIPMN
KANSGEASLE EDLFLTSPME IVTQQDIVLS DAENKSSDTP SSLSPLNLPG AGSEMEEKVA
PVKPSRPKRH FSSAGTIESV NLDAIPLAIA RLDNSAAKHK LAVKPKKQRV SKKHRRLAQD
PQHEQGGLES RPCLDQNGHP GEDKPTWHEE EPNPLDSEEE RRRQEDYWRE LEAKCKRQKA
EAAEKRRLEE QRLQALERRL WEENRRQEIL EEEGEGQEPP LEAERAPREE QQRSLEAPGW
EDAERREREE RERLEAEEER RRLQAQAQAE ERRRLEEDAR LEERRRQEEE EGRCAEELKR
QEEEEAEGWE ELEQQEAEVQ GPPEALEETG EGRRGAEEED LGEEEEEGQA HLEDWRGQLS
ELLNDFEERL EDQERLKPEG QREHSEEPGI CEEQNPEAER RREQQGRSGD FQGADRPGPE
EKREEGDTEP LLKQEGPVEA AQPPVERKEA AALEQGRKVE ELRWQEVDER QTMPRPYTFQ
VSSGGKQILF PKVNLSPVTP AKDTGLTAAP QEPKAPKASP VQHALPSSLS VPHTAILVTG
AQLCGPAVNL SQIKDTACKS LLGLEEKKHA EAPAGENPPR GPGDARAGSG KAKPRQESPS
SASALAEWAS IRSRILKNAE SDPRSSERDQ LRPGDESTPR GRCDSRGNQR KTPPVNAKFS
IMPAWQKFSD GGTETSKQST EAESIRKRPM LGPSEETAPQ PPPAGVRELG KGPEKSEMHR
EPADTTEGCK FAKDLPSFLV PSLPYPPQKV VAHTEFTTSS DSETANGIAK PDPVMPGGEE
KASPFGIKLR RTNYSLRFNC DQQAEQKKKK RHSSTGDSAD AGPPAAGSAR GEKEMEGVAL
KHGPSLPQER KQAPSTRRDS AEPSSSRSVP VAHPGPPPAS SQTPAPEHDK AANKMPLAQK
PALAPKPTSQ TPPASPLSKL SRPYLVELLS RRAGRPDPEP SEPSKEDQES SDRRPPSPPG
PEERKGQKRD EEEEATERKP ASPPLPATQQ EKPSQTPEAG RKEKPMLQSR HSLDGSKLTE
KVETAQPLWI TLALQKQKGF REQQATREER KQAREAKQAE KLSKENVSVS VQPGSSSVSR
AGSLHKSTAL PEEKRPETAV SRLERREQLK KANTLPTSVT VEISDSAPPA PLVKEVTKRF
STPDAAPVST EPAWLALAKR KAKAWSDCPQ IIK*
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: 0.999999999981319 (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) chr4:57180473C>AN/A show variant in all transcripts   IGV
HGNC symbol CRACD
Ensembl transcript ID ENST00000504228
Genbank transcript ID NM_020722
UniProt peptide Q6ZU35
alteration type single base exchange
alteration region CDS
DNA changes c.805C>A
cDNA.910C>A
g.144113C>A
AA changes L269I Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS
269
frameshift no
known variant Reference ID: rs6823339
databasehomozygous (A/A)heterozygousallele carriers
1000G2589561214
ExAC164751576804
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4820.054
0.1960.042
(flanking)1.230.044
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 268
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      269RRLWEENRRQELLEEEGEGQEPPL
mutated  all conserved    269RRLWEENRRQEILEEEGEGQEPP
Ptroglodytes  all identical  ENSPTRG00000016078  269RRLWEENRRQELLEEEGEGQEPP
Mmulatta  all identical  ENSMMUG00000016358  269RRLWEENRRQELLEEEGEGQEPP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000036377  269RRLWEESLRQELLEEEEEGEEEEEVKEEGEEGEEVGLQPRAGK
Ggallus  not conserved  ENSGALG00000013771  268EQMKKEQERRD--SEKKEQQRPE
Trubripes  not conserved  ENSTRUG00000015704  237---------DECLES--------
Drerio  not conserved  ENSDARG00000011602  230RRFTQEFHEDDFSEIQEEFEKDEEV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
209529COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3702 / 3702
position (AA) of stopcodon in wt / mu AA sequence 1234 / 1234
position of stopcodon in wt / mu cDNA 3807 / 3807
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 106 / 106
chromosome 4
strand 1
last intron/exon boundary 3647
theoretical NMD boundary in CDS 3491
length of CDS 3702
coding sequence (CDS) position 805
cDNA position
(for ins/del: last normal base / first normal base)
910
gDNA position
(for ins/del: last normal base / first normal base)
144113
chromosomal position
(for ins/del: last normal base / first normal base)
57180473
original gDNA sequence snippet AAGAGAACAGAAGGCAGGAGCTCTTGGAGGAGGAGGGCGAG
altered gDNA sequence snippet AAGAGAACAGAAGGCAGGAGATCTTGGAGGAGGAGGGCGAG
original cDNA sequence snippet AAGAGAACAGAAGGCAGGAGCTCTTGGAGGAGGAGGGCGAG
altered cDNA sequence snippet AAGAGAACAGAAGGCAGGAGATCTTGGAGGAGGAGGGCGAG
wildtype AA sequence MGTRAFSHDS IFIPDGGAES EQTVQAMSQD NILGKVKTLQ QQLGKNIKFG QRSPNAIPMN
KANSGEASLE EDLFLTSPME IVTQQDIVLS DAENKSSDTP SSLSPLNLPG AGSEMEEKVA
PVKPSRPKRH FSSAGTIESV NLDAIPLAIA RLDNSAAKHK LAVKPKKQRV SKKHRRLAQD
PQHEQGGLES RPCLDQNGHP GEDKPTWHEE EPNPLDSEEE RRRQEDYWRE LEAKCKRQKA
EAAEKRRLEE QRLQALERRL WEENRRQELL EEEGEGQEPP LEAERAPREE QQRSLEAPGW
EDAERREREE RERLEAEEER RRLQAQAQAE ERRRLEEDAR LEERRRQEEE EGRCAEELKR
QEEEEAEGWE ELEQQEAEVQ GPPEALEETG EGRRGAEEED LGEEEEEGQA HLEDWRGQLS
ELLNDFEERL EDQERLKPEG QREHSEEPGI CEEQNPEAER RREQQGRSGD FQGADRPGPE
EKREEGDTEP LLKQEGPVEA AQPPVERKEA AALEQGRKVE ELRWQEVDER QTMPRPYTFQ
VSSGGKQILF PKVNLSPVTP AKDTGLTAAP QEPKAPKASP VQHALPSSLS VPHTAILVTG
AQLCGPAVNL SQIKDTACKS LLGLEEKKHA EAPAGENPPR GPGDARAGSG KAKPRQESPS
SASALAEWAS IRSRILKNAE SDPRSSERDQ LRPGDESTPR GRCDSRGNQR KTPPVNAKFS
IMPAWQKFSD GGTETSKQST EAESIRKRPM LGPSEETAPQ PPPAGVRELG KGPEKSEMHR
EPADTTEGCK FAKDLPSFLV PSLPYPPQKV VAHTEFTTSS DSETANGIAK PDPVMPGGEE
KASPFGIKLR RTNYSLRFNC DQQAEQKKKK RHSSTGDSAD AGPPAAGSAR GEKEMEGVAL
KHGPSLPQER KQAPSTRRDS AEPSSSRSVP VAHPGPPPAS SQTPAPEHDK AANKMPLAQK
PALAPKPTSQ TPPASPLSKL SRPYLVELLS RRAGRPDPEP SEPSKEDQES SDRRPPSPPG
PEERKGQKRD EEEEATERKP ASPPLPATQQ EKPSQTPEAG RKEKPMLQSR HSLDGSKLTE
KVETAQPLWI TLALQKQKGF REQQATREER KQAREAKQAE KLSKENVSVS VQPGSSSVSR
AGSLHKSTAL PEEKRPETAV SRLERREQLK KANTLPTSVT VEISDSAPPA PLVKEVTKRF
STPDAAPVST EPAWLALAKR KAKAWSDCPQ IIK*
mutated AA sequence MGTRAFSHDS IFIPDGGAES EQTVQAMSQD NILGKVKTLQ QQLGKNIKFG QRSPNAIPMN
KANSGEASLE EDLFLTSPME IVTQQDIVLS DAENKSSDTP SSLSPLNLPG AGSEMEEKVA
PVKPSRPKRH FSSAGTIESV NLDAIPLAIA RLDNSAAKHK LAVKPKKQRV SKKHRRLAQD
PQHEQGGLES RPCLDQNGHP GEDKPTWHEE EPNPLDSEEE RRRQEDYWRE LEAKCKRQKA
EAAEKRRLEE QRLQALERRL WEENRRQEIL EEEGEGQEPP LEAERAPREE QQRSLEAPGW
EDAERREREE RERLEAEEER RRLQAQAQAE ERRRLEEDAR LEERRRQEEE EGRCAEELKR
QEEEEAEGWE ELEQQEAEVQ GPPEALEETG EGRRGAEEED LGEEEEEGQA HLEDWRGQLS
ELLNDFEERL EDQERLKPEG QREHSEEPGI CEEQNPEAER RREQQGRSGD FQGADRPGPE
EKREEGDTEP LLKQEGPVEA AQPPVERKEA AALEQGRKVE ELRWQEVDER QTMPRPYTFQ
VSSGGKQILF PKVNLSPVTP AKDTGLTAAP QEPKAPKASP VQHALPSSLS VPHTAILVTG
AQLCGPAVNL SQIKDTACKS LLGLEEKKHA EAPAGENPPR GPGDARAGSG KAKPRQESPS
SASALAEWAS IRSRILKNAE SDPRSSERDQ LRPGDESTPR GRCDSRGNQR KTPPVNAKFS
IMPAWQKFSD GGTETSKQST EAESIRKRPM LGPSEETAPQ PPPAGVRELG KGPEKSEMHR
EPADTTEGCK FAKDLPSFLV PSLPYPPQKV VAHTEFTTSS DSETANGIAK PDPVMPGGEE
KASPFGIKLR RTNYSLRFNC DQQAEQKKKK RHSSTGDSAD AGPPAAGSAR GEKEMEGVAL
KHGPSLPQER KQAPSTRRDS AEPSSSRSVP VAHPGPPPAS SQTPAPEHDK AANKMPLAQK
PALAPKPTSQ TPPASPLSKL SRPYLVELLS RRAGRPDPEP SEPSKEDQES SDRRPPSPPG
PEERKGQKRD EEEEATERKP ASPPLPATQQ EKPSQTPEAG RKEKPMLQSR HSLDGSKLTE
KVETAQPLWI TLALQKQKGF REQQATREER KQAREAKQAE KLSKENVSVS VQPGSSSVSR
AGSLHKSTAL PEEKRPETAV SRLERREQLK KANTLPTSVT VEISDSAPPA PLVKEVTKRF
STPDAAPVST EPAWLALAKR KAKAWSDCPQ IIK*
speed 0.35 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: 0.999999999981319 (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) chr4:57180473C>AN/A show variant in all transcripts   IGV
HGNC symbol CRACD
Ensembl transcript ID ENST00000541073
Genbank transcript ID N/A
UniProt peptide Q6ZU35
alteration type single base exchange
alteration region CDS
DNA changes c.784C>A
cDNA.932C>A
g.144113C>A
AA changes L262I Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS
262
frameshift no
known variant Reference ID: rs6823339
databasehomozygous (A/A)heterozygousallele carriers
1000G2589561214
ExAC164751576804
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4820.054
0.1960.042
(flanking)1.230.044
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 268
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      262RRLWEENRRQELLEEEGEGQEPPL
mutated  all conserved    262RRLWEENRRQEILEEEGEGQEPP
Ptroglodytes  all identical  ENSPTRG00000016078  269RRLWEENRRQELLEEEGEGQEPP
Mmulatta  all identical  ENSMMUG00000016358  269RRLWEENRRQELLEEEGEGQEPP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000036377  269RRLWEESLRQELLEEEEEGEEEE
Ggallus  not conserved  ENSGALG00000013771  269EQMKKEQERRD--SEKKEQQRP
Trubripes  not conserved  ENSTRUG00000015704  234---------DECLES--------
Drerio  not conserved  ENSDARG00000011602  230RRFTQEFHEDDFSEIQEEFEKDEEV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
209529COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3681 / 3681
position (AA) of stopcodon in wt / mu AA sequence 1227 / 1227
position of stopcodon in wt / mu cDNA 3829 / 3829
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 149 / 149
chromosome 4
strand 1
last intron/exon boundary 3669
theoretical NMD boundary in CDS 3470
length of CDS 3681
coding sequence (CDS) position 784
cDNA position
(for ins/del: last normal base / first normal base)
932
gDNA position
(for ins/del: last normal base / first normal base)
144113
chromosomal position
(for ins/del: last normal base / first normal base)
57180473
original gDNA sequence snippet AAGAGAACAGAAGGCAGGAGCTCTTGGAGGAGGAGGGCGAG
altered gDNA sequence snippet AAGAGAACAGAAGGCAGGAGATCTTGGAGGAGGAGGGCGAG
original cDNA sequence snippet AAGAGAACAGAAGGCAGGAGCTCTTGGAGGAGGAGGGCGAG
altered cDNA sequence snippet AAGAGAACAGAAGGCAGGAGATCTTGGAGGAGGAGGGCGAG
wildtype AA sequence MGEQKVSRQF KQCHRTTSWA KSKLFSRLSS MFLQQLGKNI KFGQRSPNAI PMNKANSGEA
SLEEDLFLTS PMEIVTQQDI VLSDAENKSS DTPSSLSPLN LPGAGSEMEE KVAPVKPSRP
KRHFSSAGTI ESVNLDAIPL AIARLDNSAA KHKLAVKPKK QRVSKKHRRL AQDPQHEQGG
LESRPCLDQN GHPGEDKPTW HEEEPNPLDS EEERRRQEDY WRELEAKCKR QKAEAAEKRR
LEEQRLQALE RRLWEENRRQ ELLEEEGEGQ EPPLEAERAP REEQQRSLEA PGWEDAERRE
REERERLEAE EERRRLQAQA QAEERRRLEE DARLEERRRQ EEEEGRCAEE LKRQEEEEAE
GWEELEQQEA EVQGPPEALE ETGEGRRGAE EEDLGEEEEE GQAHLEDWRG QLSELLNDFE
ERLEDQERLK PEGQREHSEE PGICEEQNPE AERRREQQGR SGDFQGADRP GPEEKREEGD
TEPLLKQEGP VEAAQPPVER KEAAALEQGR KVEELRWQEV DERQTMPRPY TFQVSSGGKQ
ILFPKVNLSP VTPAKDTGLT AAPQEPKAPK ASPVQHALPS SLSVPHTAIL VTGAQLCGPA
VNLSQIKDTA CKSLLGLEEK KHAEAPAGEN PPRGPGDARA GSGKAKPRQE SPSSASALAE
WASIRSRILK NAESDPRSSE RDQLRPGDES TPRGRCDSRG NQRKTPPVNA KFSIMPAWQK
FSDGGTETSK QSTEAESIRK RPMLGPSEET APQPPPAGVR ELGKGPEKSE MHREPADTTE
GCKFAKDLPS FLVPSLPYPP QKVVAHTEFT TSSDSETANG IAKPDPVMPG GEEKASPFGI
KLRRTNYSLR FNCDQQAEQK KKKRHSSTGD SADAGPPAAG SARGEKEMEG VALKHGPSLP
QERKQAPSTR RDSAEPSSSR SVPVAHPGPP PASSQTPAPE HDKAANKMPL AQKPALAPKP
TSQTPPASPL SKLSRPYLVE LLSRRAGRPD PEPSEPSKED QESSDRRPPS PPGPEERKGQ
KRDEEEEATE RKPASPPLPA TQQEKPSQTP EAGRKEKPML QSRHSLDGSK LTEKVETAQP
LWITLALQKQ KGFREQQATR EERKQAREAK QAEKLSKENV SVSVQPGSSS VSRAGSLHKS
TALPEEKRPE TAVSRLERRE QLKKANTLPT SVTVEISDSA PPAPLVKEVT KRFSTPDAAP
VSTEPAWLAL AKRKAKAWSD CPQIIK*
mutated AA sequence MGEQKVSRQF KQCHRTTSWA KSKLFSRLSS MFLQQLGKNI KFGQRSPNAI PMNKANSGEA
SLEEDLFLTS PMEIVTQQDI VLSDAENKSS DTPSSLSPLN LPGAGSEMEE KVAPVKPSRP
KRHFSSAGTI ESVNLDAIPL AIARLDNSAA KHKLAVKPKK QRVSKKHRRL AQDPQHEQGG
LESRPCLDQN GHPGEDKPTW HEEEPNPLDS EEERRRQEDY WRELEAKCKR QKAEAAEKRR
LEEQRLQALE RRLWEENRRQ EILEEEGEGQ EPPLEAERAP REEQQRSLEA PGWEDAERRE
REERERLEAE EERRRLQAQA QAEERRRLEE DARLEERRRQ EEEEGRCAEE LKRQEEEEAE
GWEELEQQEA EVQGPPEALE ETGEGRRGAE EEDLGEEEEE GQAHLEDWRG QLSELLNDFE
ERLEDQERLK PEGQREHSEE PGICEEQNPE AERRREQQGR SGDFQGADRP GPEEKREEGD
TEPLLKQEGP VEAAQPPVER KEAAALEQGR KVEELRWQEV DERQTMPRPY TFQVSSGGKQ
ILFPKVNLSP VTPAKDTGLT AAPQEPKAPK ASPVQHALPS SLSVPHTAIL VTGAQLCGPA
VNLSQIKDTA CKSLLGLEEK KHAEAPAGEN PPRGPGDARA GSGKAKPRQE SPSSASALAE
WASIRSRILK NAESDPRSSE RDQLRPGDES TPRGRCDSRG NQRKTPPVNA KFSIMPAWQK
FSDGGTETSK QSTEAESIRK RPMLGPSEET APQPPPAGVR ELGKGPEKSE MHREPADTTE
GCKFAKDLPS FLVPSLPYPP QKVVAHTEFT TSSDSETANG IAKPDPVMPG GEEKASPFGI
KLRRTNYSLR FNCDQQAEQK KKKRHSSTGD SADAGPPAAG SARGEKEMEG VALKHGPSLP
QERKQAPSTR RDSAEPSSSR SVPVAHPGPP PASSQTPAPE HDKAANKMPL AQKPALAPKP
TSQTPPASPL SKLSRPYLVE LLSRRAGRPD PEPSEPSKED QESSDRRPPS PPGPEERKGQ
KRDEEEEATE RKPASPPLPA TQQEKPSQTP EAGRKEKPML QSRHSLDGSK LTEKVETAQP
LWITLALQKQ KGFREQQATR EERKQAREAK QAEKLSKENV SVSVQPGSSS VSRAGSLHKS
TALPEEKRPE TAVSRLERRE QLKKANTLPT SVTVEISDSA PPAPLVKEVT KRFSTPDAAP
VSTEPAWLAL AKRKAKAWSD CPQIIK*
speed 1.22 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