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 1.21 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