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 1.26 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