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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000270861
Querying Taster for transcript #2: ENST00000515069
Querying Taster for transcript #3: ENST00000513090
Querying Taster for transcript #4: ENST00000507249
Querying Taster for transcript #5: ENST00000514379
MT speed 0 s - this script 3.530967 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PLK4polymorphism_automatic1.2401191185063e-13simple_aaeaffectedS232Tsingle base exchangers3811740show file
PLK4polymorphism_automatic1.2401191185063e-13simple_aaeaffectedS232Tsingle base exchangers3811740show file
PLK4polymorphism_automatic1.2401191185063e-13simple_aaeaffectedS232Tsingle base exchangers3811740show file
PLK4polymorphism_automatic1.2401191185063e-13simple_aaeaffectedS191Tsingle base exchangers3811740show file
PLK4polymorphism_automatic7.58948459633757e-13simple_aaeaffectedS200Tsingle base exchangers3811740show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999876 (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) chr4:128807219T>AN/A show variant in all transcripts   IGV
HGNC symbol PLK4
Ensembl transcript ID ENST00000270861
Genbank transcript ID NM_014264
UniProt peptide O00444
alteration type single base exchange
alteration region CDS
DNA changes c.694T>A
cDNA.968T>A
g.5204T>A
AA changes S232T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 232
frameshift no
known variant Reference ID: rs3811740
databasehomozygous (A/A)heterozygousallele carriers
1000G13909372327
ExAC30280-277932487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.309
-0.6770.106
(flanking)1.4660.291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5199wt: 0.32 / mu: 0.97wt: TGAAATGCCATCTTT
mu: TGAAATGCCAACTTT		 AAAT|gcca
distance from splice site 357
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      232NKVVLADYEMPSFLSIEAKDLIHQ
mutated  all conserved    232NKVVLADYEMPTFLSIEAKD
Ptroglodytes  all conserved  ENSPTRG00000016434  232NKVVLADYEMPTFLSIEAKD
Mmulatta  all conserved  ENSMMUG00000003320  232NKVVLADYEMPTFLSIEAKD
Fcatus  all conserved  ENSFCAG00000000135  199NKVVLADYEMPTFLTREAKDLIH
Mmusculus  all conserved  ENSMUSG00000025758  232NKVVLADYEMPAFLSREAQD
Ggallus  all conserved  ENSGALG00000010195  232NKVVLADYEMPAFLSREAQD
Trubripes  no alignment  ENSTRUG00000007503  n/a
Drerio  not conserved  ENSDARG00000004576  232NKVVLGEYQMPMHISAEAQD
Dmelanogaster  all conserved  FBgn0026371  234NKVVMSEYIMPAHLSYEAQDLIN
Celegans  not conserved  F59E12.2  230G------------MSPNAAR
Xtropicalis  not conserved  ENSXETG00000022522  232NKIVLADYEMPDFVSREAKD
protein features
start (aa)end (aa)featuredetails 
12265DOMAINProtein kinase.lost
236245HELIXmight get lost (downstream of altered splice site)
250252HELIXmight get lost (downstream of altered splice site)
256259HELIXmight get lost (downstream of altered splice site)
263265TURNmight get lost (downstream of altered splice site)
333333CONFLICTD -> N (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
377377MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
378378MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
387387CONFLICTS -> R (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
401401MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
420420MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
421421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
499499MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
591591MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
592592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
665665MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
671671MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
692692CONFLICTF -> S (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
696696CONFLICTV -> L (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
768768CONFLICTY -> F (in Ref. 1; CAA73575).might get lost (downstream of altered splice site)
817817MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
842842CONFLICTA -> D (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
892956DOMAINPOLO box.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2913 / 2913
position (AA) of stopcodon in wt / mu AA sequence 971 / 971
position of stopcodon in wt / mu cDNA 3187 / 3187
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 275 / 275
chromosome 4
strand 1
last intron/exon boundary 3085
theoretical NMD boundary in CDS 2760
length of CDS 2913
coding sequence (CDS) position 694
cDNA position
(for ins/del: last normal base / first normal base)		 968
gDNA position
(for ins/del: last normal base / first normal base)		 5204
chromosomal position
(for ins/del: last normal base / first normal base)		 128807219
original gDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered gDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
original cDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered cDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
wildtype AA sequence MATCIGEKIE DFKVGNLLGK GSFAGVYRAE SIHTGLEVAI KMIDKKAMYK AGMVQRVQNE
VKIHCQLKHP SILELYNYFE DSNYVYLVLE MCHNGEMNRY LKNRVKPFSE NEARHFMHQI
ITGMLYLHSH GILHRDLTLS NLLLTRNMNI KIADFGLATQ LKMPHEKHYT LCGTPNYISP
EIATRSAHGL ESDVWSLGCM FYTLLIGRPP FDTDTVKNTL NKVVLADYEM PSFLSIEAKD
LIHQLLRRNP ADRLSLSSVL DHPFMSRNSS TKSKDLGTVE DSIDSGHATI STAITASSST
SISGSLFDKR RLLIGQPLPN KMTVFPKNKS STDFSSSGDG NSFYTQWGNQ ETSNSGRGRV
IQDAEERPHS RYLRRAYSSD RSGTSNSQSQ AKTYTMERCH SAEMLSVSKR SGGGENEERY
SPTDNNANIF NFFKEKTSSS SGSFERPDNN QALSNHLCPG KTPFPFADPT PQTETVQQWF
GNLQINAHLR KTTEYDSISP NRDFQGHPDL QKDTSKNAWT DTKVKKNSDA SDNAHSVKQQ
NTMKYMTALH SKPEIIQQEC VFGSDPLSEQ SKTRGMEPPW GYQNRTLRSI TSPLVAHRLK
PIRQKTKKAV VSILDSEEVC VELVKEYASQ EYVKEVLQIS SDGNTITIYY PNGGRGFPLA
DRPPSPTDNI SRYSFDNLPE KYWRKYQYAS RFVQLVRSKS PKITYFTRYA KCILMENSPG
ADFEVWFYDG VKIHKTEDFI QVIEKTGKSY TLKSESEVNS LKEEIKMYMD HANEGHRICL
ALESIISEEE RKTRSAPFFP IIIGRKPGST SSPKALSPPP SVDSNYPTRE RASFNRMVMH
SAASPTQAPI LNPSMVTNEG LGLTTTASGT DISSNSLKDC LPKSAQLLKS VFVKNVGWAT
QLTSGAVWVQ FNDGSQLVVQ AGVSSISYTS PNGQTTRYGE NEKLPDYIKQ KLQCLSSILL
MFSNPTPNFH *
mutated AA sequence MATCIGEKIE DFKVGNLLGK GSFAGVYRAE SIHTGLEVAI KMIDKKAMYK AGMVQRVQNE
VKIHCQLKHP SILELYNYFE DSNYVYLVLE MCHNGEMNRY LKNRVKPFSE NEARHFMHQI
ITGMLYLHSH GILHRDLTLS NLLLTRNMNI KIADFGLATQ LKMPHEKHYT LCGTPNYISP
EIATRSAHGL ESDVWSLGCM FYTLLIGRPP FDTDTVKNTL NKVVLADYEM PTFLSIEAKD
LIHQLLRRNP ADRLSLSSVL DHPFMSRNSS TKSKDLGTVE DSIDSGHATI STAITASSST
SISGSLFDKR RLLIGQPLPN KMTVFPKNKS STDFSSSGDG NSFYTQWGNQ ETSNSGRGRV
IQDAEERPHS RYLRRAYSSD RSGTSNSQSQ AKTYTMERCH SAEMLSVSKR SGGGENEERY
SPTDNNANIF NFFKEKTSSS SGSFERPDNN QALSNHLCPG KTPFPFADPT PQTETVQQWF
GNLQINAHLR KTTEYDSISP NRDFQGHPDL QKDTSKNAWT DTKVKKNSDA SDNAHSVKQQ
NTMKYMTALH SKPEIIQQEC VFGSDPLSEQ SKTRGMEPPW GYQNRTLRSI TSPLVAHRLK
PIRQKTKKAV VSILDSEEVC VELVKEYASQ EYVKEVLQIS SDGNTITIYY PNGGRGFPLA
DRPPSPTDNI SRYSFDNLPE KYWRKYQYAS RFVQLVRSKS PKITYFTRYA KCILMENSPG
ADFEVWFYDG VKIHKTEDFI QVIEKTGKSY TLKSESEVNS LKEEIKMYMD HANEGHRICL
ALESIISEEE RKTRSAPFFP IIIGRKPGST SSPKALSPPP SVDSNYPTRE RASFNRMVMH
SAASPTQAPI LNPSMVTNEG LGLTTTASGT DISSNSLKDC LPKSAQLLKS VFVKNVGWAT
QLTSGAVWVQ FNDGSQLVVQ AGVSSISYTS PNGQTTRYGE NEKLPDYIKQ KLQCLSSILL
MFSNPTPNFH *
speed 0.33 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: 0.999999999999876 (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) chr4:128807219T>AN/A show variant in all transcripts   IGV
HGNC symbol PLK4
Ensembl transcript ID ENST00000515069
Genbank transcript ID N/A
UniProt peptide O00444
alteration type single base exchange
alteration region CDS
DNA changes c.694T>A
cDNA.920T>A
g.5204T>A
AA changes S232T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 232
frameshift no
known variant Reference ID: rs3811740
databasehomozygous (A/A)heterozygousallele carriers
1000G13909372327
ExAC30280-277932487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.309
-0.6770.106
(flanking)1.4660.291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5199wt: 0.32 / mu: 0.97wt: TGAAATGCCATCTTT
mu: TGAAATGCCAACTTT		 AAAT|gcca
distance from splice site 357
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      232NKVVLADYEMPSFLSIEAKDLIHQ
mutated  all conserved    232NKVVLADYEMPTFLSIEAKD
Ptroglodytes  all conserved  ENSPTRG00000016434  232NKVVLADYEMPTFLSIEAKD
Mmulatta  all conserved  ENSMMUG00000003320  232NKVVLADYEMPTFLSIEAKD
Fcatus  all conserved  ENSFCAG00000000135  199NKVVLADYEMPTFLTREAKDLIH
Mmusculus  all conserved  ENSMUSG00000025758  232NKVVLADYEMPAFLSREAQD
Ggallus  all conserved  ENSGALG00000010195  232NKVVLADYEMPAFLSREAQD
Trubripes  no alignment  ENSTRUG00000007503  n/a
Drerio  not conserved  ENSDARG00000004576  232NKVVLGEYQMPMHISAEAQD
Dmelanogaster  all conserved  FBgn0026371  234NKVVMSEYIMPAHLSYEAQDLIN
Celegans  not conserved  F59E12.2  230G------------MSPNAAR
Xtropicalis  not conserved  ENSXETG00000022522  232NKIVLADYEMPDFVSREAKD
protein features
start (aa)end (aa)featuredetails 
12265DOMAINProtein kinase.lost
236245HELIXmight get lost (downstream of altered splice site)
250252HELIXmight get lost (downstream of altered splice site)
256259HELIXmight get lost (downstream of altered splice site)
263265TURNmight get lost (downstream of altered splice site)
333333CONFLICTD -> N (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
377377MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
378378MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
387387CONFLICTS -> R (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
401401MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
420420MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
421421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
499499MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
591591MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
592592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
665665MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
671671MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
692692CONFLICTF -> S (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
696696CONFLICTV -> L (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
768768CONFLICTY -> F (in Ref. 1; CAA73575).might get lost (downstream of altered splice site)
817817MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
842842CONFLICTA -> D (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
892956DOMAINPOLO box.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2679 / 2679
position (AA) of stopcodon in wt / mu AA sequence 893 / 893
position of stopcodon in wt / mu cDNA 2905 / 2905
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 227 / 227
chromosome 4
strand 1
last intron/exon boundary 2803
theoretical NMD boundary in CDS 2526
length of CDS 2679
coding sequence (CDS) position 694
cDNA position
(for ins/del: last normal base / first normal base)		 920
gDNA position
(for ins/del: last normal base / first normal base)		 5204
chromosomal position
(for ins/del: last normal base / first normal base)		 128807219
original gDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered gDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
original cDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered cDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
wildtype AA sequence MATCIGEKIE DFKVGNLLGK GSFAGVYRAE SIHTGLEVAI KMIDKKAMYK AGMVQRVQNE
VKIHCQLKHP SILELYNYFE DSNYVYLVLE MCHNGEMNRY LKNRVKPFSE NEARHFMHQI
ITGMLYLHSH GILHRDLTLS NLLLTRNMNI KIADFGLATQ LKMPHEKHYT LCGTPNYISP
EIATRSAHGL ESDVWSLGCM FYTLLIGRPP FDTDTVKNTL NKVVLADYEM PSFLSIEAKD
LIHQLLRRNP ADRLSLSSVL DHPFMSRNSS TKSKDLGTVE DSIDSGHATI STAITASSST
SISGSLFDKR RLLIGQPLPN KMTVFPKNKS STDFSSSGDG NSFYTQWGNQ ETSNSGRGRV
IQDAEERPHS RYLRRAYSSD RSGTSNSQSQ AKTYTMERCH SAEMLSVSKR SGGGENEERY
SPTDNNANIF NFFKEKTSSS SGSFERPDNN QALSNHLCPG KTPFPFADPT PQTETVQQWF
GNLQINDPLS EQSKTRGMEP PWGYQNRTLR SITSPLVAHR LKPIRQKTKK AVVSILDSEE
VCVELVKEYA SQEYVKEVLQ ISSDGNTITI YYPNGGRGFP LADRPPSPTD NISRYSFDNL
PEKYWRKYQY ASRFVQLVRS KSPKITYFTR YAKCILMENS PGADFEVWFY DGVKIHKTED
FIQVIEKTGK SYTLKSESEV NSLKEEIKMY MDHANEGHRI CLALESIISE EERKTRSAPF
FPIIIGRKPG STSSPKALSP PPSVDSNYPT RERASFNRMV MHSAASPTQA PILNPSMVTN
EGLGLTTTAS GTDISSNSLK DCLPKSAQLL KSVFVKNVGW ATQLTSGAVW VQFNDGSQLV
VQAGVSSISY TSPNGQTTRY GENEKLPDYI KQKLQCLSSI LLMFSNPTPN FH*
mutated AA sequence MATCIGEKIE DFKVGNLLGK GSFAGVYRAE SIHTGLEVAI KMIDKKAMYK AGMVQRVQNE
VKIHCQLKHP SILELYNYFE DSNYVYLVLE MCHNGEMNRY LKNRVKPFSE NEARHFMHQI
ITGMLYLHSH GILHRDLTLS NLLLTRNMNI KIADFGLATQ LKMPHEKHYT LCGTPNYISP
EIATRSAHGL ESDVWSLGCM FYTLLIGRPP FDTDTVKNTL NKVVLADYEM PTFLSIEAKD
LIHQLLRRNP ADRLSLSSVL DHPFMSRNSS TKSKDLGTVE DSIDSGHATI STAITASSST
SISGSLFDKR RLLIGQPLPN KMTVFPKNKS STDFSSSGDG NSFYTQWGNQ ETSNSGRGRV
IQDAEERPHS RYLRRAYSSD RSGTSNSQSQ AKTYTMERCH SAEMLSVSKR SGGGENEERY
SPTDNNANIF NFFKEKTSSS SGSFERPDNN QALSNHLCPG KTPFPFADPT PQTETVQQWF
GNLQINDPLS EQSKTRGMEP PWGYQNRTLR SITSPLVAHR LKPIRQKTKK AVVSILDSEE
VCVELVKEYA SQEYVKEVLQ ISSDGNTITI YYPNGGRGFP LADRPPSPTD NISRYSFDNL
PEKYWRKYQY ASRFVQLVRS KSPKITYFTR YAKCILMENS PGADFEVWFY DGVKIHKTED
FIQVIEKTGK SYTLKSESEV NSLKEEIKMY MDHANEGHRI CLALESIISE EERKTRSAPF
FPIIIGRKPG STSSPKALSP PPSVDSNYPT RERASFNRMV MHSAASPTQA PILNPSMVTN
EGLGLTTTAS GTDISSNSLK DCLPKSAQLL KSVFVKNVGW ATQLTSGAVW VQFNDGSQLV
VQAGVSSISY TSPNGQTTRY GENEKLPDYI KQKLQCLSSI LLMFSNPTPN FH*
speed 0.40 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: 0.999999999999876 (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) chr4:128807219T>AN/A show variant in all transcripts   IGV
HGNC symbol PLK4
Ensembl transcript ID ENST00000507249
Genbank transcript ID N/A
UniProt peptide O00444
alteration type single base exchange
alteration region CDS
DNA changes c.694T>A
cDNA.900T>A
g.5204T>A
AA changes S232T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 232
frameshift no
known variant Reference ID: rs3811740
databasehomozygous (A/A)heterozygousallele carriers
1000G13909372327
ExAC30280-277932487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.309
-0.6770.106
(flanking)1.4660.291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5199wt: 0.32 / mu: 0.97wt: TGAAATGCCATCTTT
mu: TGAAATGCCAACTTT		 AAAT|gcca
distance from splice site 357
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      232NKVVLADYEMPSFLSIEAKDLIHQ
mutated  all conserved    232NKVVLADYEMPTFLSIEAKD
Ptroglodytes  all conserved  ENSPTRG00000016434  232NKVVLADYEMPTFLSIEAKD
Mmulatta  all conserved  ENSMMUG00000003320  232NKVVLADYEMPTFLSIEAKD
Fcatus  all conserved  ENSFCAG00000000135  199NKVVLADYEMPTFLTREAKDLIH
Mmusculus  all conserved  ENSMUSG00000025758  232NKVVLADYEMPAFLSREAQD
Ggallus  all conserved  ENSGALG00000010195  232NKVVLADYEMPAFLSREAQD
Trubripes  no alignment  ENSTRUG00000007503  n/a
Drerio  not conserved  ENSDARG00000004576  232NKVVLGEYQMPMHISAEAQD
Dmelanogaster  all conserved  FBgn0026371  234NKVVMSEYIMPAHLSYEAQDLIN
Celegans  not conserved  F59E12.2  230G------------MSPNAAR
Xtropicalis  not conserved  ENSXETG00000022522  232NKIVLADYEMPDFVSREAKD
protein features
start (aa)end (aa)featuredetails 
12265DOMAINProtein kinase.lost
236245HELIXmight get lost (downstream of altered splice site)
250252HELIXmight get lost (downstream of altered splice site)
256259HELIXmight get lost (downstream of altered splice site)
263265TURNmight get lost (downstream of altered splice site)
333333CONFLICTD -> N (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
377377MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
378378MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
387387CONFLICTS -> R (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
401401MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
420420MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
421421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
499499MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
591591MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
592592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
665665MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
671671MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
692692CONFLICTF -> S (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
696696CONFLICTV -> L (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
768768CONFLICTY -> F (in Ref. 1; CAA73575).might get lost (downstream of altered splice site)
817817MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
842842CONFLICTA -> D (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
892956DOMAINPOLO box.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2730 / 2730
position (AA) of stopcodon in wt / mu AA sequence 910 / 910
position of stopcodon in wt / mu cDNA 2936 / 2936
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 207 / 207
chromosome 4
strand 1
last intron/exon boundary 2834
theoretical NMD boundary in CDS 2577
length of CDS 2730
coding sequence (CDS) position 694
cDNA position
(for ins/del: last normal base / first normal base)		 900
gDNA position
(for ins/del: last normal base / first normal base)		 5204
chromosomal position
(for ins/del: last normal base / first normal base)		 128807219
original gDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered gDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
original cDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered cDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
wildtype AA sequence MATCIGEKIE DFKVGNLLGK GSFAGVYRAE SIHTGLEVAI KMIDKKAMYK AGMVQRVQNE
VKIHCQLKHP SILELYNYFE DSNYVYLVLE MCHNGEMNRY LKNRVKPFSE NEARHFMHQI
ITGMLYLHSH GILHRDLTLS NLLLTRNMNI KIADFGLATQ LKMPHEKHYT LCGTPNYISP
EIATRSAHGL ESDVWSLGCM FYTLLIGRPP FDTDTVKNTL NKVVLADYEM PSFLSIEAKD
LIHQLLRRNP ADRLSLSSVL DHPFMSRNSS TKSKDLGTVE DSIDSGHATI STAITASSST
SISGSLFDKR RLLIGQPLPN KMTVFPKNKS STDFSSSGDG NSFYTQWGNQ ETSNSGRGRV
IQDAEERPHS RYLRRAYSSD RSGTSNSQSQ AKTYTMERCH SAEMLSVSKR SGGGENEESS
NHLCPGKTPF PFADPTPQTE TVQQWFGNLQ INAHLRKTTE YDSISPNRDF QGHPDLQKDT
SKNAWTDTKV KKNSDASDNA HSVKQQNTMK YMTALHSKPE IIQQECVFGS DPLSEQSKTR
GMEPPWGYQN RTLRSITSPL VAHRLKPIRQ KTKKAVVSIL DSEEITIYYP NGGRGFPLAD
RPPSPTDNIS RYSFDNLPEK YWRKYQYASR FVQLVRSKSP KITYFTRYAK CILMENSPGA
DFEVWFYDGV KIHKTEDFIQ VIEKTGKSYT LKSESEVNSL KEEIKMYMDH ANEGHRICLA
LESIISEEER KTRSAPFFPI IIGRKPGSTS SPKALSPPPS VDSNYPTRER ASFNRMVMHS
AASPTQAPIL NPSMVTNEGL GLTTTASGTD ISSNSLKDCL PKSAQLLKSV FVKNVGWATQ
LTSGAVWVQF NDGSQLVVQA GVSSISYTSP NGQTTRYGEN EKLPDYIKQK LQCLSSILLM
FSNPTPNFH*
mutated AA sequence MATCIGEKIE DFKVGNLLGK GSFAGVYRAE SIHTGLEVAI KMIDKKAMYK AGMVQRVQNE
VKIHCQLKHP SILELYNYFE DSNYVYLVLE MCHNGEMNRY LKNRVKPFSE NEARHFMHQI
ITGMLYLHSH GILHRDLTLS NLLLTRNMNI KIADFGLATQ LKMPHEKHYT LCGTPNYISP
EIATRSAHGL ESDVWSLGCM FYTLLIGRPP FDTDTVKNTL NKVVLADYEM PTFLSIEAKD
LIHQLLRRNP ADRLSLSSVL DHPFMSRNSS TKSKDLGTVE DSIDSGHATI STAITASSST
SISGSLFDKR RLLIGQPLPN KMTVFPKNKS STDFSSSGDG NSFYTQWGNQ ETSNSGRGRV
IQDAEERPHS RYLRRAYSSD RSGTSNSQSQ AKTYTMERCH SAEMLSVSKR SGGGENEESS
NHLCPGKTPF PFADPTPQTE TVQQWFGNLQ INAHLRKTTE YDSISPNRDF QGHPDLQKDT
SKNAWTDTKV KKNSDASDNA HSVKQQNTMK YMTALHSKPE IIQQECVFGS DPLSEQSKTR
GMEPPWGYQN RTLRSITSPL VAHRLKPIRQ KTKKAVVSIL DSEEITIYYP NGGRGFPLAD
RPPSPTDNIS RYSFDNLPEK YWRKYQYASR FVQLVRSKSP KITYFTRYAK CILMENSPGA
DFEVWFYDGV KIHKTEDFIQ VIEKTGKSYT LKSESEVNSL KEEIKMYMDH ANEGHRICLA
LESIISEEER KTRSAPFFPI IIGRKPGSTS SPKALSPPPS VDSNYPTRER ASFNRMVMHS
AASPTQAPIL NPSMVTNEGL GLTTTASGTD ISSNSLKDCL PKSAQLLKSV FVKNVGWATQ
LTSGAVWVQF NDGSQLVVQA GVSSISYTSP NGQTTRYGEN EKLPDYIKQK LQCLSSILLM
FSNPTPNFH*
speed 0.30 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: 0.999999999999876 (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) chr4:128807219T>AN/A show variant in all transcripts   IGV
HGNC symbol PLK4
Ensembl transcript ID ENST00000514379
Genbank transcript ID NM_001190801
UniProt peptide O00444
alteration type single base exchange
alteration region CDS
DNA changes c.571T>A
cDNA.803T>A
g.5204T>A
AA changes S191T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 191
frameshift no
known variant Reference ID: rs3811740
databasehomozygous (A/A)heterozygousallele carriers
1000G13909372327
ExAC30280-277932487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.309
-0.6770.106
(flanking)1.4660.291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5199wt: 0.32 / mu: 0.97wt: TGAAATGCCATCTTT
mu: TGAAATGCCAACTTT		 AAAT|gcca
distance from splice site 357
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      191NKVVLADYEMPSFLSIEAKDLIHQ
mutated  all conserved    191KVVLADYEMPTFLSIEAKDLIH
Ptroglodytes  all conserved  ENSPTRG00000016434  232KVVLADYEMPTFLSIEAKDLIH
Mmulatta  all conserved  ENSMMUG00000003320  232KVVLADYEMPTFLSIEAKDLIH
Fcatus  all conserved  ENSFCAG00000000135  199KVVLADYEMPTFLTREAKDLIH
Mmusculus  all conserved  ENSMUSG00000025758  232KVVLADYEMPAFLSREAQDLIH
Ggallus  all conserved  ENSGALG00000010195  232KVVLADYEMPAFLSREAQDLIH
Trubripes  no alignment  ENSTRUG00000007503  n/a
Drerio  not conserved  ENSDARG00000004576  232KVVLGEYQMPMHISAEAQDLIQ
Dmelanogaster  all conserved  FBgn0026371  234KVVMSEYIMPAHLSYEAQDLIN
Celegans  not conserved  F59E12.2  219---MSPNAARLVE
Xtropicalis  not conserved  ENSXETG00000022522  232KIVLADYEMPDFVSREAKDLIF
protein features
start (aa)end (aa)featuredetails 
12265DOMAINProtein kinase.lost
193206HELIXmight get lost (downstream of altered splice site)
236245HELIXmight get lost (downstream of altered splice site)
250252HELIXmight get lost (downstream of altered splice site)
256259HELIXmight get lost (downstream of altered splice site)
263265TURNmight get lost (downstream of altered splice site)
333333CONFLICTD -> N (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
377377MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
378378MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
387387CONFLICTS -> R (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
401401MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
420420MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
421421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
499499MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
591591MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
592592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
665665MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
671671MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
692692CONFLICTF -> S (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
696696CONFLICTV -> L (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
768768CONFLICTY -> F (in Ref. 1; CAA73575).might get lost (downstream of altered splice site)
817817MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
842842CONFLICTA -> D (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
892956DOMAINPOLO box.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2790 / 2790
position (AA) of stopcodon in wt / mu AA sequence 930 / 930
position of stopcodon in wt / mu cDNA 3022 / 3022
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 233 / 233
chromosome 4
strand 1
last intron/exon boundary 2920
theoretical NMD boundary in CDS 2637
length of CDS 2790
coding sequence (CDS) position 571
cDNA position
(for ins/del: last normal base / first normal base)		 803
gDNA position
(for ins/del: last normal base / first normal base)		 5204
chromosomal position
(for ins/del: last normal base / first normal base)		 128807219
original gDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered gDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
original cDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered cDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
wildtype AA sequence MIDKKAMYKA GMVQRVQNEV KIHCQLKHPS ILELYNYFED SNYVYLVLEM CHNGEMNRYL
KNRVKPFSEN EARHFMHQII TGMLYLHSHG ILHRDLTLSN LLLTRNMNIK IADFGLATQL
KMPHEKHYTL CGTPNYISPE IATRSAHGLE SDVWSLGCMF YTLLIGRPPF DTDTVKNTLN
KVVLADYEMP SFLSIEAKDL IHQLLRRNPA DRLSLSSVLD HPFMSRNSST KSKDLGTVED
SIDSGHATIS TAITASSSTS ISGSLFDKRR LLIGQPLPNK MTVFPKNKSS TDFSSSGDGN
SFYTQWGNQE TSNSGRGRVI QDAEERPHSR YLRRAYSSDR SGTSNSQSQA KTYTMERCHS
AEMLSVSKRS GGGENEERYS PTDNNANIFN FFKEKTSSSS GSFERPDNNQ ALSNHLCPGK
TPFPFADPTP QTETVQQWFG NLQINAHLRK TTEYDSISPN RDFQGHPDLQ KDTSKNAWTD
TKVKKNSDAS DNAHSVKQQN TMKYMTALHS KPEIIQQECV FGSDPLSEQS KTRGMEPPWG
YQNRTLRSIT SPLVAHRLKP IRQKTKKAVV SILDSEEVCV ELVKEYASQE YVKEVLQISS
DGNTITIYYP NGGRGFPLAD RPPSPTDNIS RYSFDNLPEK YWRKYQYASR FVQLVRSKSP
KITYFTRYAK CILMENSPGA DFEVWFYDGV KIHKTEDFIQ VIEKTGKSYT LKSESEVNSL
KEEIKMYMDH ANEGHRICLA LESIISEEER KTRSAPFFPI IIGRKPGSTS SPKALSPPPS
VDSNYPTRER ASFNRMVMHS AASPTQAPIL NPSMVTNEGL GLTTTASGTD ISSNSLKDCL
PKSAQLLKSV FVKNVGWATQ LTSGAVWVQF NDGSQLVVQA GVSSISYTSP NGQTTRYGEN
EKLPDYIKQK LQCLSSILLM FSNPTPNFH*
mutated AA sequence MIDKKAMYKA GMVQRVQNEV KIHCQLKHPS ILELYNYFED SNYVYLVLEM CHNGEMNRYL
KNRVKPFSEN EARHFMHQII TGMLYLHSHG ILHRDLTLSN LLLTRNMNIK IADFGLATQL
KMPHEKHYTL CGTPNYISPE IATRSAHGLE SDVWSLGCMF YTLLIGRPPF DTDTVKNTLN
KVVLADYEMP TFLSIEAKDL IHQLLRRNPA DRLSLSSVLD HPFMSRNSST KSKDLGTVED
SIDSGHATIS TAITASSSTS ISGSLFDKRR LLIGQPLPNK MTVFPKNKSS TDFSSSGDGN
SFYTQWGNQE TSNSGRGRVI QDAEERPHSR YLRRAYSSDR SGTSNSQSQA KTYTMERCHS
AEMLSVSKRS GGGENEERYS PTDNNANIFN FFKEKTSSSS GSFERPDNNQ ALSNHLCPGK
TPFPFADPTP QTETVQQWFG NLQINAHLRK TTEYDSISPN RDFQGHPDLQ KDTSKNAWTD
TKVKKNSDAS DNAHSVKQQN TMKYMTALHS KPEIIQQECV FGSDPLSEQS KTRGMEPPWG
YQNRTLRSIT SPLVAHRLKP IRQKTKKAVV SILDSEEVCV ELVKEYASQE YVKEVLQISS
DGNTITIYYP NGGRGFPLAD RPPSPTDNIS RYSFDNLPEK YWRKYQYASR FVQLVRSKSP
KITYFTRYAK CILMENSPGA DFEVWFYDGV KIHKTEDFIQ VIEKTGKSYT LKSESEVNSL
KEEIKMYMDH ANEGHRICLA LESIISEEER KTRSAPFFPI IIGRKPGSTS SPKALSPPPS
VDSNYPTRER ASFNRMVMHS AASPTQAPIL NPSMVTNEGL GLTTTASGTD ISSNSLKDCL
PKSAQLLKSV FVKNVGWATQ LTSGAVWVQF NDGSQLVVQA GVSSISYTSP NGQTTRYGEN
EKLPDYIKQK LQCLSSILLM FSNPTPNFH*
speed 0.30 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: 0.999999999999241 (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) chr4:128807219T>AN/A show variant in all transcripts   IGV
HGNC symbol PLK4
Ensembl transcript ID ENST00000513090
Genbank transcript ID NM_001190799
UniProt peptide O00444
alteration type single base exchange
alteration region CDS
DNA changes c.598T>A
cDNA.806T>A
g.5204T>A
AA changes S200T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 200
frameshift no
known variant Reference ID: rs3811740
databasehomozygous (A/A)heterozygousallele carriers
1000G13909372327
ExAC30280-277932487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.309
-0.6770.106
(flanking)1.4660.291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5199wt: 0.32 / mu: 0.97wt: TGAAATGCCATCTTT
mu: TGAAATGCCAACTTT		 AAAT|gcca
distance from splice site 357
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      200NKVVLADYEMPSFLSIEAKDLIHQ
mutated  all conserved    200NKVVLADYEMPTFLSIEAKDLIH
Ptroglodytes  all conserved  ENSPTRG00000016434  232NKVVLADYEMPTFLSIEAKD
Mmulatta  all conserved  ENSMMUG00000003320  232NKVVLADYEMPTFLSIEAKD
Fcatus  all conserved  ENSFCAG00000000135  199NKVVLADYEMPTFLTREAKDLIH
Mmusculus  all conserved  ENSMUSG00000025758  232NKVVLADYEMPAFLSREAQD
Ggallus  all conserved  ENSGALG00000010195  232NKVVLADYEMPAFLSREAQD
Trubripes  no alignment  ENSTRUG00000007503  n/a
Drerio  not conserved  ENSDARG00000004576  232NKVVLGEYQMPMHISAEAQD
Dmelanogaster  all conserved  FBgn0026371  234NKVVMSEYIMPAHLSYEAQDLIN
Celegans  not conserved  F59E12.2  230G------------MSPNAARLVE
Xtropicalis  not conserved  ENSXETG00000022522  232NKIVLADYEMPDFVSREAKD
protein features
start (aa)end (aa)featuredetails 
12265DOMAINProtein kinase.lost
193206HELIXlost
236245HELIXmight get lost (downstream of altered splice site)
250252HELIXmight get lost (downstream of altered splice site)
256259HELIXmight get lost (downstream of altered splice site)
263265TURNmight get lost (downstream of altered splice site)
333333CONFLICTD -> N (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
377377MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
378378MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
387387CONFLICTS -> R (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
401401MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
420420MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
421421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
499499MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
591591MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
592592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
665665MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
671671MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
692692CONFLICTF -> S (in Ref. 3; BAH13823).might get lost (downstream of altered splice site)
696696CONFLICTV -> L (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
768768CONFLICTY -> F (in Ref. 1; CAA73575).might get lost (downstream of altered splice site)
817817MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
842842CONFLICTA -> D (in Ref. 2; BAB69958).might get lost (downstream of altered splice site)
892956DOMAINPOLO box.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2817 / 2817
position (AA) of stopcodon in wt / mu AA sequence 939 / 939
position of stopcodon in wt / mu cDNA 3025 / 3025
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 209 / 209
chromosome 4
strand 1
last intron/exon boundary 2923
theoretical NMD boundary in CDS 2664
length of CDS 2817
coding sequence (CDS) position 598
cDNA position
(for ins/del: last normal base / first normal base)		 806
gDNA position
(for ins/del: last normal base / first normal base)		 5204
chromosomal position
(for ins/del: last normal base / first normal base)		 128807219
original gDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered gDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
original cDNA sequence snippet TGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCC
altered cDNA sequence snippet TGGCAGATTATGAAATGCCAACTTTTTTGTCAATAGAGGCC
wildtype AA sequence MATCIGEKIE DFKVGNLLGK GSFAGVYRAE SIHTGLEVAI KMLYNYFEDS NYVYLVLEMC
HNGEMNRYLK NRVKPFSENE ARHFMHQIIT GMLYLHSHGI LHRDLTLSNL LLTRNMNIKI
ADFGLATQLK MPHEKHYTLC GTPNYISPEI ATRSAHGLES DVWSLGCMFY TLLIGRPPFD
TDTVKNTLNK VVLADYEMPS FLSIEAKDLI HQLLRRNPAD RLSLSSVLDH PFMSRNSSTK
SKDLGTVEDS IDSGHATIST AITASSSTSI SGSLFDKRRL LIGQPLPNKM TVFPKNKSST
DFSSSGDGNS FYTQWGNQET SNSGRGRVIQ DAEERPHSRY LRRAYSSDRS GTSNSQSQAK
TYTMERCHSA EMLSVSKRSG GGENEERYSP TDNNANIFNF FKEKTSSSSG SFERPDNNQA
LSNHLCPGKT PFPFADPTPQ TETVQQWFGN LQINAHLRKT TEYDSISPNR DFQGHPDLQK
DTSKNAWTDT KVKKNSDASD NAHSVKQQNT MKYMTALHSK PEIIQQECVF GSDPLSEQSK
TRGMEPPWGY QNRTLRSITS PLVAHRLKPI RQKTKKAVVS ILDSEEVCVE LVKEYASQEY
VKEVLQISSD GNTITIYYPN GGRGFPLADR PPSPTDNISR YSFDNLPEKY WRKYQYASRF
VQLVRSKSPK ITYFTRYAKC ILMENSPGAD FEVWFYDGVK IHKTEDFIQV IEKTGKSYTL
KSESEVNSLK EEIKMYMDHA NEGHRICLAL ESIISEEERK TRSAPFFPII IGRKPGSTSS
PKALSPPPSV DSNYPTRERA SFNRMVMHSA ASPTQAPILN PSMVTNEGLG LTTTASGTDI
SSNSLKDCLP KSAQLLKSVF VKNVGWATQL TSGAVWVQFN DGSQLVVQAG VSSISYTSPN
GQTTRYGENE KLPDYIKQKL QCLSSILLMF SNPTPNFH*
mutated AA sequence MATCIGEKIE DFKVGNLLGK GSFAGVYRAE SIHTGLEVAI KMLYNYFEDS NYVYLVLEMC
HNGEMNRYLK NRVKPFSENE ARHFMHQIIT GMLYLHSHGI LHRDLTLSNL LLTRNMNIKI
ADFGLATQLK MPHEKHYTLC GTPNYISPEI ATRSAHGLES DVWSLGCMFY TLLIGRPPFD
TDTVKNTLNK VVLADYEMPT FLSIEAKDLI HQLLRRNPAD RLSLSSVLDH PFMSRNSSTK
SKDLGTVEDS IDSGHATIST AITASSSTSI SGSLFDKRRL LIGQPLPNKM TVFPKNKSST
DFSSSGDGNS FYTQWGNQET SNSGRGRVIQ DAEERPHSRY LRRAYSSDRS GTSNSQSQAK
TYTMERCHSA EMLSVSKRSG GGENEERYSP TDNNANIFNF FKEKTSSSSG SFERPDNNQA
LSNHLCPGKT PFPFADPTPQ TETVQQWFGN LQINAHLRKT TEYDSISPNR DFQGHPDLQK
DTSKNAWTDT KVKKNSDASD NAHSVKQQNT MKYMTALHSK PEIIQQECVF GSDPLSEQSK
TRGMEPPWGY QNRTLRSITS PLVAHRLKPI RQKTKKAVVS ILDSEEVCVE LVKEYASQEY
VKEVLQISSD GNTITIYYPN GGRGFPLADR PPSPTDNISR YSFDNLPEKY WRKYQYASRF
VQLVRSKSPK ITYFTRYAKC ILMENSPGAD FEVWFYDGVK IHKTEDFIQV IEKTGKSYTL
KSESEVNSLK EEIKMYMDHA NEGHRICLAL ESIISEEERK TRSAPFFPII IGRKPGSTSS
PKALSPPPSV DSNYPTRERA SFNRMVMHSA ASPTQAPILN PSMVTNEGLG LTTTASGTDI
SSNSLKDCLP KSAQLLKSVF VKNVGWATQL TSGAVWVQFN DGSQLVVQAG VSSISYTSPN
GQTTRYGENE KLPDYIKQKL QCLSSILLMF SNPTPNFH*
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

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