mutation t@sting

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

known variant

Reference ID: rs3811740

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1390	937	2327
ExAC	30280	-27793	2487

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.365	0.309
	-0.677	0.106
(flanking)	1.466	0.291

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	5199	wt: 0.32 / mu: 0.97	wt: TGAAATGCCATCTTT mu: TGAAATGCCAACTTT	AAAT\|gcca

distance from splice site

357

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

232

mutated

all conserved

232

Ptroglodytes

all conserved

ENSPTRG00000016434

232

Mmulatta

all conserved

ENSMMUG00000003320

232

Fcatus

all conserved

ENSFCAG00000000135

199

Mmusculus

all conserved

ENSMUSG00000025758

232

Ggallus

all conserved

ENSGALG00000010195

232

Trubripes

no alignment

ENSTRUG00000007503

n/a

Drerio

not conserved

ENSDARG00000004576

232

Dmelanogaster

all conserved

FBgn0026371

234

Celegans

not conserved

F59E12.2

230

Xtropicalis

not conserved

ENSXETG00000022522

232

protein features

start (aa)	end (aa)	feature	details
12	265	DOMAIN	Protein kinase.	lost
236	245	HELIX		might get lost (downstream of altered splice site)
250	252	HELIX		might get lost (downstream of altered splice site)
256	259	HELIX		might get lost (downstream of altered splice site)
263	265	TURN		might get lost (downstream of altered splice site)
333	333	CONFLICT	D -> N (in Ref. 3; BAH13823).	might get lost (downstream of altered splice site)
377	377	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
378	378	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
387	387	CONFLICT	S -> R (in Ref. 2; BAB69958).	might get lost (downstream of altered splice site)
401	401	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
420	420	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
421	421	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
499	499	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
591	591	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
592	592	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
665	665	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
671	671	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
692	692	CONFLICT	F -> S (in Ref. 3; BAH13823).	might get lost (downstream of altered splice site)
696	696	CONFLICT	V -> L (in Ref. 2; BAB69958).	might get lost (downstream of altered splice site)
768	768	CONFLICT	Y -> F (in Ref. 1; CAA73575).	might get lost (downstream of altered splice site)
817	817	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
842	842	CONFLICT	A -> D (in Ref. 2; BAB69958).	might get lost (downstream of altered splice site)
892	956	DOMAIN	POLO 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

strand

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

0.85 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