MutationTaster - study a chromosomal position

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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000592533
Querying Taster for transcript #2: ENST00000590751
Querying Taster for transcript #3: ENST00000593133
Querying Taster for transcript #4: ENST00000451802
Querying Taster for transcript #5: ENST00000358744
Querying Taster for transcript #6: ENST00000328550
MT speed 0 s - this script 4.239619 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF571	polymorphism_automatic	0.00439428910558104	simple_aae				L573H	single base exchange	rs4802029		show file
ZNF571	polymorphism_automatic	0.00439428910558104	simple_aae				L573H	single base exchange	rs4802029		show file
ZNF571	polymorphism_automatic	0.00439428910558104	simple_aae				L573H	single base exchange	rs4802029		show file
ZNF571	polymorphism_automatic	0.00439428910558104	simple_aae				L573H	single base exchange	rs4802029		show file
ZNF540	polymorphism_automatic	1	without_aae					single base exchange	rs4802029		show file
ZNF571	polymorphism_automatic	1	without_aae					single base exchange	rs4802029		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.995605710894419 (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)

chr19:38055612A>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF571

Ensembl transcript ID

ENST00000451802

Genbank transcript ID

N/A

UniProt peptide

Q7Z3V5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1718T>A
cDNA.1819T>A
g.30062T>A

AA changes

L573H Score: 99 explain score(s)

position(s) of altered AA
if AA alteration in CDS

573

frameshift

known variant

Reference ID: rs4802029

database	homozygous (T/T)	heterozygous	allele carriers
1000G	405	1034	1439
ExAC	4954	21738	26692

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.02	0.228
	4.123	0.538
(flanking)	1.703	0.507

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

447

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

573

mutated

not conserved

573

Ptroglodytes

all identical

ENSPTRG00000010913

573

Mmulatta

all identical

ENSMMUG00000011091

573

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
558	580	ZN_FING	C2H2-type 16.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1830 / 1830

position (AA) of stopcodon in wt / mu AA sequence

610 / 610

position of stopcodon in wt / mu cDNA

1931 / 1931

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

102 / 102

chromosome

strand

-1

last intron/exon boundary

238

theoretical NMD boundary in CDS

length of CDS

1830

coding sequence (CDS) position

1718

cDNA position
(for ins/del: last normal base / first normal base)

1819

gDNA position
(for ins/del: last normal base / first normal base)

30062

chromosomal position
(for ins/del: last normal base / first normal base)

38055612

original gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

original cDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered cDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

wildtype AA sequence

MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIQT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*

mutated AA sequence

speed

0.81 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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.995605710894419 (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)

chr19:38055612A>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF571

Ensembl transcript ID

ENST00000593133

Genbank transcript ID

N/A

UniProt peptide

Q7Z3V5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1718T>A
cDNA.2447T>A
g.30062T>A

AA changes

L573H Score: 99 explain score(s)

position(s) of altered AA
if AA alteration in CDS

573

frameshift

known variant

Reference ID: rs4802029

database	homozygous (T/T)	heterozygous	allele carriers
1000G	405	1034	1439
ExAC	4954	21738	26692

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.02	0.228
	4.123	0.538
(flanking)	1.703	0.507

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

458

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

573

mutated

not conserved

573

Ptroglodytes

all identical

ENSPTRG00000010913

573

Mmulatta

all identical

ENSMMUG00000011091

573

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
558	580	ZN_FING	C2H2-type 16.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1830 / 1830

position (AA) of stopcodon in wt / mu AA sequence

610 / 610

position of stopcodon in wt / mu cDNA

2559 / 2559

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

730 / 730

chromosome

strand

-1

last intron/exon boundary

866

theoretical NMD boundary in CDS

length of CDS

1830

coding sequence (CDS) position

1718

cDNA position
(for ins/del: last normal base / first normal base)

2447

gDNA position
(for ins/del: last normal base / first normal base)

30062

chromosomal position
(for ins/del: last normal base / first normal base)

38055612

original gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

original cDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered cDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

wildtype AA sequence

mutated AA sequence

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.995605710894419 (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)

chr19:38055612A>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF571

Ensembl transcript ID

ENST00000358744

Genbank transcript ID

N/A

UniProt peptide

Q7Z3V5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1718T>A
cDNA.1908T>A
g.30062T>A

AA changes

L573H Score: 99 explain score(s)

position(s) of altered AA
if AA alteration in CDS

573

frameshift

known variant

Reference ID: rs4802029

database	homozygous (T/T)	heterozygous	allele carriers
1000G	405	1034	1439
ExAC	4954	21738	26692

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.02	0.228
	4.123	0.538
(flanking)	1.703	0.507

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

142

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

573

mutated

not conserved

573

Ptroglodytes

all identical

ENSPTRG00000010913

573

Mmulatta

all identical

ENSMMUG00000011091

573

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
558	580	ZN_FING	C2H2-type 16.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1830 / 1830

position (AA) of stopcodon in wt / mu AA sequence

610 / 610

position of stopcodon in wt / mu cDNA

2020 / 2020

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

191 / 191

chromosome

strand

-1

last intron/exon boundary

327

theoretical NMD boundary in CDS

length of CDS

1830

coding sequence (CDS) position

1718

cDNA position
(for ins/del: last normal base / first normal base)

1908

gDNA position
(for ins/del: last normal base / first normal base)

30062

chromosomal position
(for ins/del: last normal base / first normal base)

38055612

original gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

original cDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered cDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

wildtype AA sequence

mutated AA sequence

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.995605710894419 (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)

chr19:38055612A>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF571

Ensembl transcript ID

ENST00000328550

Genbank transcript ID

NM_016536

UniProt peptide

Q7Z3V5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1718T>A
cDNA.1818T>A
g.30062T>A

AA changes

L573H Score: 99 explain score(s)

position(s) of altered AA
if AA alteration in CDS

573

frameshift

known variant

Reference ID: rs4802029

database	homozygous (T/T)	heterozygous	allele carriers
1000G	405	1034	1439
ExAC	4954	21738	26692

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.02	0.228
	4.123	0.538
(flanking)	1.703	0.507

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

906

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

573

mutated

not conserved

573

Ptroglodytes

all identical

ENSPTRG00000010913

573

Mmulatta

all identical

ENSMMUG00000011091

573

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
558	580	ZN_FING	C2H2-type 16.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1830 / 1830

position (AA) of stopcodon in wt / mu AA sequence

610 / 610

position of stopcodon in wt / mu cDNA

1930 / 1930

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

101 / 101

chromosome

strand

-1

last intron/exon boundary

2724

theoretical NMD boundary in CDS

2573

length of CDS

1830

coding sequence (CDS) position

1718

cDNA position
(for ins/del: last normal base / first normal base)

1818

gDNA position
(for ins/del: last normal base / first normal base)

30062

chromosomal position
(for ins/del: last normal base / first normal base)

38055612

original gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

original cDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered cDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

wildtype AA sequence

mutated AA sequence

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 3.84929289351042e-26 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:38055612A>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF540

Ensembl transcript ID

ENST00000592533

Genbank transcript ID

NM_152606

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.13305A>T

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4802029

database	homozygous (T/T)	heterozygous	allele carriers
1000G	405	1034	1439
ExAC	4954	21738	26692

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.02	0.228
	4.123	0.538
(flanking)	1.703	0.507

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 marginally increased	13296	wt: 0.9893 / mu: 0.9914 (marginal change - not scored)	wt: TTTGATGCAGAGTAA mu: TTTGATGCAGAGTAT	TGAT\|gcag

distance from splice site

13045

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

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

333 / 333

chromosome

strand

last intron/exon boundary

565

theoretical NMD boundary in CDS

182

length of CDS

1983

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

13305

chromosomal position
(for ins/del: last normal base / first normal base)

38055612

original gDNA sequence snippet

GGATCCTTTGATGCAGAGTAAGTTCTGAGCCACGACTAAAG

altered gDNA sequence snippet

GGATCCTTTGATGCAGAGTATGTTCTGAGCCACGACTAAAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAHALVTFRD VAIDFSQKEW ECLDTTQRKL YRDVMLENYN NLVSLGYSGS KPDVITLLEQ
GKEPCVVARD VTGRQCPGLL SRHKTKKLSS EKDIHEISLS KESIIEKSKT LRLKGSIFRN
EWQNKSEFEG QQGLKERSIS QKKIVSKKMS TDRKRPSFTL NQRIHNSEKS CDSHLVQHGK
IDSDVKHDCK ECGSTFNNVY QLTLHQKIHT GEKSCKCEKC GKVFSHSYQL TLHQRFHTGE
KPYECQECGK TFTLYPQLNR HQKIHTGKKP YMCKKCDKGF FSRLELTQHK RIHTGKKSYE
CKECGKVFQL IFYFKEHERI HTGKKPYECK ECGKAFSVCG QLTRHQKIHT GVKPYECKEC
GKTFRLSFYL TEHRRTHAGK KPYECKECGK SFNVRGQLNR HKTIHTGIKP FACKVCEKAF
SYSGDLRVHS RIHTGEKPYE CKECGKAFML RSVLTEHQRL HTGVKPYECK ECGKTFRVRS
QISLHKKIHT DVKPYKCVRC GKTFRFGFYL TEHQRIHTGE KPYKCKECGK AFIRRGNLKE
HLKIHSGLKP YDCKECGKSF SRRGQFTEHQ KIHTGVKPYK CKECGKAFSR SVDLRIHQRI
HTGEKPYECK QCGKAFRLNS HLTEHQRIHT GEKPYECKVC RKAFRQYSHL YQHQKTHNVI
*

mutated AA sequence

N/A

speed

0.57 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 3.84929289351042e-26 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:38055612A>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF571

Ensembl transcript ID

ENST00000590751

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.30062T>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs4802029

database	homozygous (T/T)	heterozygous	allele carriers
1000G	405	1034	1439
ExAC	4954	21738	26692

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.02	0.228
	4.123	0.538
(flanking)	1.703	0.507

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

8549

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

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

185 / 185

chromosome

strand

-1

last intron/exon boundary

321

theoretical NMD boundary in CDS

length of CDS

429

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

30062

chromosomal position
(for ins/del: last normal base / first normal base)

38055612

original gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC

altered gDNA sequence snippet

CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLEPART REEQHNLPVP
KAGSVNLAAG FGHSRSQTGC GSSKGAEKGL QNVDFYLCPG NHPDTSCRDT YQFFCPDWTC
VTLATYSGGS TRSSFHNSCF SS*

mutated AA sequence

N/A

speed

0.60 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems