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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000556859
Querying Taster for transcript #2: ENST00000395151
Querying Taster for transcript #3: ENST00000395153
Querying Taster for transcript #4: ENST00000335867
Querying Taster for transcript #5: ENST00000541264
MT speed 0 s - this script 4.956096 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DACT1	polymorphism_automatic	4.06019662335666e-11	simple_aae		affected		G416S	single base exchange	rs698025		show file
DACT1	polymorphism_automatic	4.06019662335666e-11	simple_aae		affected		G416S	single base exchange	rs698025		show file
DACT1	polymorphism_automatic	4.06019662335666e-11	simple_aae		affected		G660S	single base exchange	rs698025		show file
DACT1	polymorphism_automatic	4.06019662335666e-11	simple_aae		affected		G697S	single base exchange	rs698025		show file
DACT1	polymorphism_automatic	4.06019662335666e-11	simple_aae		affected		G416S	single base exchange	rs698025		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999959398 (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)

chr14:59113430G>AN/A show variant in all transcripts IGV

HGNC symbol

DACT1

Ensembl transcript ID

ENST00000556859

Genbank transcript ID

N/A

UniProt peptide

Q9NYF0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1246G>A
cDNA.1751G>A
g.12746G>A

AA changes

G416S Score: 56 explain score(s)

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

416

frameshift

known variant

Reference ID: rs698025

database	homozygous (A/A)	heterozygous	allele carriers
1000G	214	925	1139
ExAC	3470	19913	23383

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.154	0.102
	0.498	0.004
(flanking)	-0.196	0

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	12751	wt: 0.50 / mu: 0.56	wt: GGTCGCCGGGAGAAT mu: AGTCGCCGGGAGAAT	TCGC\|cggg
Donor gained	12741	0.88	mu: GGCCCGGCGCAGTCG	CCCG\|gcgc

distance from splice site

489

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

416

mutated

not conserved

416

Ptroglodytes

all identical

ENSPTRG00000006397

697

Mmulatta

all identical

ENSMMUG00000001090

698

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000044548

675

Ggallus

not conserved

ENSGALG00000012023

684

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000039675

685

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000011962

686

protein features

start (aa)	end (aa)	feature	details
610	623	MOTIF	Bipartite nuclear localization signal (Probable).	might get lost (downstream of altered splice site)
622	623	MUTAGEN	KK->AA: Partial nuclear accumulation upon LMB treatment.	might get lost (downstream of altered splice site)
826	836	MOTIF	PDZ-binding (By similarity).	might get lost (downstream of altered splice site)
827	827	MOD_RES	Phosphoserine; by PKA.	might get lost (downstream of altered splice site)
827	827	MUTAGEN	S->A: Abolishes interaction with YWHAB; when associated with A-237.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

2173 / 2173

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

506 / 506

chromosome

strand

last intron/exon boundary

408

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1668

coding sequence (CDS) position

1246

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

1751

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

12746

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

59113430

original gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

original cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

wildtype AA sequence

MFLLCLTGNP LREEDRLGNH ASDICGGSEL DAVKTDSSLP SPSSLWSASH PSSSKKMDGY
ILSLVQKKTH PVRTNKPRTS VNADPTKGLL RNGSVCVRAP GGVSQGNSVN LKNSKQACLP
SGGIPSLNNG TFSPPKQWSK ESKAEQAESK RVPLPEGCPS GAASDLQSKH LPKTAKPASQ
EHARCSAIGT GESPKESAQL SGASPKESPS RGPAPPQENK VVQPLKKMSQ KNSLQGVPPA
TPPLLSTAFP VEERPALDFK SEGSSQSLEE AHLVKAQFIP GQQPSVRLHR GHRNMGVVKN
SSLKHRGPAL QGLENGLPTV REKTRAGSKK CRFPDDLDTN KKLKKASSKG RKSGGGPEAG
VPGRPAGGGH RAGSRAHGHG REAVVAKPKH KRTDYRRWKS SAEISYEEAL RRARRGRREN
VGLYPAPVPL PYASPYAYVA SDSEYSAECE SLFHSTVVDT SEDEQSNYTT NCFGDSESSV
SEGEFVGEST TTSDSEESGG LIWSQFVQTL PIQTVTAPDL HNHPAKTFVK IKASHNLKKK
ILRFRSGSLK LMTTV*

mutated AA sequence

MFLLCLTGNP LREEDRLGNH ASDICGGSEL DAVKTDSSLP SPSSLWSASH PSSSKKMDGY
ILSLVQKKTH PVRTNKPRTS VNADPTKGLL RNGSVCVRAP GGVSQGNSVN LKNSKQACLP
SGGIPSLNNG TFSPPKQWSK ESKAEQAESK RVPLPEGCPS GAASDLQSKH LPKTAKPASQ
EHARCSAIGT GESPKESAQL SGASPKESPS RGPAPPQENK VVQPLKKMSQ KNSLQGVPPA
TPPLLSTAFP VEERPALDFK SEGSSQSLEE AHLVKAQFIP GQQPSVRLHR GHRNMGVVKN
SSLKHRGPAL QGLENGLPTV REKTRAGSKK CRFPDDLDTN KKLKKASSKG RKSGGGPEAG
VPGRPAGGGH RAGSRAHGHG REAVVAKPKH KRTDYRRWKS SAEISYEEAL RRARRSRREN
VGLYPAPVPL PYASPYAYVA SDSEYSAECE SLFHSTVVDT SEDEQSNYTT NCFGDSESSV
SEGEFVGEST TTSDSEESGG LIWSQFVQTL PIQTVTAPDL HNHPAKTFVK IKASHNLKKK
ILRFRSGSLK LMTTV*

speed

1.07 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: 0.999999999959398 (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)

chr14:59113430G>AN/A show variant in all transcripts IGV

HGNC symbol

DACT1

Ensembl transcript ID

ENST00000395151

Genbank transcript ID

N/A

UniProt peptide

Q9NYF0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1246G>A
cDNA.1714G>A
g.12746G>A

AA changes

G416S Score: 56 explain score(s)

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

416

frameshift

known variant

Reference ID: rs698025

database	homozygous (A/A)	heterozygous	allele carriers
1000G	214	925	1139
ExAC	3470	19913	23383

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.154	0.102
	0.498	0.004
(flanking)	-0.196	0

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	12751	wt: 0.50 / mu: 0.56	wt: GGTCGCCGGGAGAAT mu: AGTCGCCGGGAGAAT	TCGC\|cggg
Donor gained	12741	0.88	mu: GGCCCGGCGCAGTCG	CCCG\|gcgc

distance from splice site

1479

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

416

mutated

not conserved

416

Ptroglodytes

all identical

ENSPTRG00000006397

697

Mmulatta

all identical

ENSMMUG00000001090

698

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000044548

675

Ggallus

not conserved

ENSGALG00000012023

684

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000039675

685

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000011962

686

protein features

start (aa)	end (aa)	feature	details
610	623	MOTIF	Bipartite nuclear localization signal (Probable).	might get lost (downstream of altered splice site)
622	623	MUTAGEN	KK->AA: Partial nuclear accumulation upon LMB treatment.	might get lost (downstream of altered splice site)
826	836	MOTIF	PDZ-binding (By similarity).	might get lost (downstream of altered splice site)
827	827	MOD_RES	Phosphoserine; by PKA.	might get lost (downstream of altered splice site)
827	827	MUTAGEN	S->A: Abolishes interaction with YWHAB; when associated with A-237.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

2136 / 2136

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

469 / 469

chromosome

strand

last intron/exon boundary

236

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1668

coding sequence (CDS) position

1246

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

1714

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

12746

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

59113430

original gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

original cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

wildtype AA sequence

mutated AA sequence

MFLLCLTGNP LREEDRLGNH ASDICGGSEL DAVKTDSSLP SPSSLWSASH PSSSKKMDGY
ILSLVQKKTH PVRTNKPRTS VNADPTKGLL RNGSVCVRAP GGVSQGNSVN LKNSKQACLP
SGGIPSLNNG TFSPPKQWSK ESKAEQAESK RVPLPEGCPS GAASDLQSKH LPKTAKPASQ
EHARCSAIGT GESPKESAQL SGASPKESPS RGPAPPQENK VVQPLKKMSQ KNSLQGVPPA
TPPLLSTAFP VEERPALDFK SEGSSQSLEE AHLVKAQFIP GQQPSVRLHR GHRNMGVVKN
SSLKHRGPAL QGLENGLPTV REKTRAGSKK CRFPDDLDTN KKLKKASSKG RKSGGGPEAG
VPGRPAGGGH RAGSRAHGHG REAVVAKPKH KRTDYRRWKS SAEISYEEAL RRARRSRREN
VGLYPAPVPL PYASPYAYVA SDSEYSAECE SLFHSTVVDT SEDEQSNYTT NCFGDSESSV
SEGEFVGEST TTSDSEESGG LIWSQFVQTL PIQTVTAPDL HNHPAKTFVK IKASHNLKKK
ILRFRSGSLK LMTTV*

speed

0.77 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999959398 (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)

chr14:59113430G>AN/A show variant in all transcripts IGV

HGNC symbol

DACT1

Ensembl transcript ID

ENST00000395153

Genbank transcript ID

NM_001079520

UniProt peptide

Q9NYF0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1978G>A
cDNA.2125G>A
g.12746G>A

AA changes

G660S Score: 56 explain score(s)

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

660

frameshift

known variant

Reference ID: rs698025

database	homozygous (A/A)	heterozygous	allele carriers
1000G	214	925	1139
ExAC	3470	19913	23383

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.154	0.102
	0.498	0.004
(flanking)	-0.196	0

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	12751	wt: 0.50 / mu: 0.56	wt: GGTCGCCGGGAGAAT mu: AGTCGCCGGGAGAAT	TCGC\|cggg
Donor gained	12741	0.88	mu: GGCCCGGCGCAGTCG	CCCG\|gcgc

distance from splice site

1344

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

660

mutated

not conserved

660

Ptroglodytes

all identical

ENSPTRG00000006397

697

Mmulatta

all identical

ENSMMUG00000001090

698

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000044548

676

Ggallus

not conserved

ENSGALG00000012023

684

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000039675

684

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000011962

686

protein features

start (aa)	end (aa)	feature	details
826	836	MOTIF	PDZ-binding (By similarity).	might get lost (downstream of altered splice site)
827	827	MOD_RES	Phosphoserine; by PKA.	might get lost (downstream of altered splice site)
827	827	MUTAGEN	S->A: Abolishes interaction with YWHAB; when associated with A-237.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2400 / 2400

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

800 / 800

position of stopcodon in wt / mu cDNA

2547 / 2547

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

148 / 148

chromosome

strand

last intron/exon boundary

782

theoretical NMD boundary in CDS

584

length of CDS

2400

coding sequence (CDS) position

1978

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

2125

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

12746

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

59113430

original gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

original cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

wildtype AA sequence

MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADVNPKYQCD LVSKNGNDVY RYPSPLHAVA
VQSPMFLLCL TGNPLREEDR LGNHASDICG GSELDAVKTD SSLPSPSSLW SASHPSSSKK
MDGYILSLVQ KKTHPVRTNK PRTSVNADPT KGLLRNGSVC VRAPGGVSQG NSVNLKNSKQ
ACLPSGGIPS LNNGTFSPPK QWSKESKAEQ AESKRVPLPE GCPSGAASDL QSKHLPKTAK
PASQEHARCS AIGTGESPKE SAQLSGASPK ESPSRGPAPP QENKVVQPLK KMSQKNSLQG
VPPATPPLLS TAFPVEERPA LDFKSEGSSQ SLEEAHLVKA QFIPGQQPSV RLHRGHRNMG
VVKNSSLKHR GPALQGLENG LPTVREKTRA GSKKCRFPDD LDTNKKLKKA SSKGRKSGGG
PEAGVPGRPA GGGHRAGSRA HGHGREAVVA KPKHKRTDYR RWKSSAEISY EEALRRARRG
RRENVGLYPA PVPLPYASPY AYVASDSEYS AECESLFHST VVDTSEDEQS NYTTNCFGDS
ESSVSEGEFV GESTTTSDSE ESGGLIWSQF VQTLPIQTVT APDLHNHPAK TFVKIKASHN
LKKKILRFRS GSLKLMTTV*

mutated AA sequence

MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADVNPKYQCD LVSKNGNDVY RYPSPLHAVA
VQSPMFLLCL TGNPLREEDR LGNHASDICG GSELDAVKTD SSLPSPSSLW SASHPSSSKK
MDGYILSLVQ KKTHPVRTNK PRTSVNADPT KGLLRNGSVC VRAPGGVSQG NSVNLKNSKQ
ACLPSGGIPS LNNGTFSPPK QWSKESKAEQ AESKRVPLPE GCPSGAASDL QSKHLPKTAK
PASQEHARCS AIGTGESPKE SAQLSGASPK ESPSRGPAPP QENKVVQPLK KMSQKNSLQG
VPPATPPLLS TAFPVEERPA LDFKSEGSSQ SLEEAHLVKA QFIPGQQPSV RLHRGHRNMG
VVKNSSLKHR GPALQGLENG LPTVREKTRA GSKKCRFPDD LDTNKKLKKA SSKGRKSGGG
PEAGVPGRPA GGGHRAGSRA HGHGREAVVA KPKHKRTDYR RWKSSAEISY EEALRRARRS
RRENVGLYPA PVPLPYASPY AYVASDSEYS AECESLFHST VVDTSEDEQS NYTTNCFGDS
ESSVSEGEFV GESTTTSDSE ESGGLIWSQF VQTLPIQTVT APDLHNHPAK TFVKIKASHN
LKKKILRFRS GSLKLMTTV*

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999959398 (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)

chr14:59113430G>AN/A show variant in all transcripts IGV

HGNC symbol

DACT1

Ensembl transcript ID

ENST00000335867

Genbank transcript ID

NM_016651

UniProt peptide

Q9NYF0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2089G>A
cDNA.2113G>A
g.12746G>A

AA changes

G697S Score: 56 explain score(s)

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

697

frameshift

known variant

Reference ID: rs698025

database	homozygous (A/A)	heterozygous	allele carriers
1000G	214	925	1139
ExAC	3470	19913	23383

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.154	0.102
	0.498	0.004
(flanking)	-0.196	0

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	12751	wt: 0.50 / mu: 0.56	wt: GGTCGCCGGGAGAAT mu: AGTCGCCGGGAGAAT	TCGC\|cggg
Donor gained	12741	0.88	mu: GGCCCGGCGCAGTCG	CCCG\|gcgc

distance from splice site

459

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

697

mutated

not conserved

697

Ptroglodytes

all identical

ENSPTRG00000006397

697

Mmulatta

all identical

ENSMMUG00000001090

698

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000044548

676

Ggallus

not conserved

ENSGALG00000012023

684

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000039675

684

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000011962

686

protein features

start (aa)	end (aa)	feature	details
826	836	MOTIF	PDZ-binding (By similarity).	might get lost (downstream of altered splice site)
827	827	MOD_RES	Phosphoserine; by PKA.	might get lost (downstream of altered splice site)
827	827	MUTAGEN	S->A: Abolishes interaction with YWHAB; when associated with A-237.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2511 / 2511

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

837 / 837

position of stopcodon in wt / mu cDNA

2535 / 2535

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

25 / 25

chromosome

strand

last intron/exon boundary

659

theoretical NMD boundary in CDS

584

length of CDS

2511

coding sequence (CDS) position

2089

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

2113

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

12746

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

59113430

original gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

original cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

wildtype AA sequence

MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADLIGLLEYK EGHCEDQASG AVCRSLSTPQ
FNSLDVIADV NPKYQCDLVS KNGNDVYRYP SPLHAVAVQS PMFLLCLTGN PLREEDRLGN
HASDICGGSE LDAVKTDSSL PSPSSLWSAS HPSSSKKMDG YILSLVQKKT HPVRTNKPRT
SVNADPTKGL LRNGSVCVRA PGGVSQGNSV NLKNSKQACL PSGGIPSLNN GTFSPPKQWS
KESKAEQAES KRVPLPEGCP SGAASDLQSK HLPKTAKPAS QEHARCSAIG TGESPKESAQ
LSGASPKESP SRGPAPPQEN KVVQPLKKMS QKNSLQGVPP ATPPLLSTAF PVEERPALDF
KSEGSSQSLE EAHLVKAQFI PGQQPSVRLH RGHRNMGVVK NSSLKHRGPA LQGLENGLPT
VREKTRAGSK KCRFPDDLDT NKKLKKASSK GRKSGGGPEA GVPGRPAGGG HRAGSRAHGH
GREAVVAKPK HKRTDYRRWK SSAEISYEEA LRRARRGRRE NVGLYPAPVP LPYASPYAYV
ASDSEYSAEC ESLFHSTVVD TSEDEQSNYT TNCFGDSESS VSEGEFVGES TTTSDSEESG
GLIWSQFVQT LPIQTVTAPD LHNHPAKTFV KIKASHNLKK KILRFRSGSL KLMTTV*

mutated AA sequence

MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADLIGLLEYK EGHCEDQASG AVCRSLSTPQ
FNSLDVIADV NPKYQCDLVS KNGNDVYRYP SPLHAVAVQS PMFLLCLTGN PLREEDRLGN
HASDICGGSE LDAVKTDSSL PSPSSLWSAS HPSSSKKMDG YILSLVQKKT HPVRTNKPRT
SVNADPTKGL LRNGSVCVRA PGGVSQGNSV NLKNSKQACL PSGGIPSLNN GTFSPPKQWS
KESKAEQAES KRVPLPEGCP SGAASDLQSK HLPKTAKPAS QEHARCSAIG TGESPKESAQ
LSGASPKESP SRGPAPPQEN KVVQPLKKMS QKNSLQGVPP ATPPLLSTAF PVEERPALDF
KSEGSSQSLE EAHLVKAQFI PGQQPSVRLH RGHRNMGVVK NSSLKHRGPA LQGLENGLPT
VREKTRAGSK KCRFPDDLDT NKKLKKASSK GRKSGGGPEA GVPGRPAGGG HRAGSRAHGH
GREAVVAKPK HKRTDYRRWK SSAEISYEEA LRRARRSRRE NVGLYPAPVP LPYASPYAYV
ASDSEYSAEC ESLFHSTVVD TSEDEQSNYT TNCFGDSESS VSEGEFVGES TTTSDSEESG
GLIWSQFVQT LPIQTVTAPD LHNHPAKTFV KIKASHNLKK KILRFRSGSL KLMTTV*

speed

1.07 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999959398 (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)

chr14:59113430G>AN/A show variant in all transcripts IGV

HGNC symbol

DACT1

Ensembl transcript ID

ENST00000541264

Genbank transcript ID

N/A

UniProt peptide

Q9NYF0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1246G>A
cDNA.2059G>A
g.12746G>A

AA changes

G416S Score: 56 explain score(s)

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

416

frameshift

known variant

Reference ID: rs698025

database	homozygous (A/A)	heterozygous	allele carriers
1000G	214	925	1139
ExAC	3470	19913	23383

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.154	0.102
	0.498	0.004
(flanking)	-0.196	0

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	12751	wt: 0.50 / mu: 0.56	wt: GGTCGCCGGGAGAAT mu: AGTCGCCGGGAGAAT	TCGC\|cggg
Donor gained	12741	0.88	mu: GGCCCGGCGCAGTCG	CCCG\|gcgc

distance from splice site

552

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

416

mutated

not conserved

416

Ptroglodytes

all identical

ENSPTRG00000006397

697

Mmulatta

all identical

ENSMMUG00000001090

698

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000044548

675

Ggallus

not conserved

ENSGALG00000012023

684

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000039675

685

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000011962

686

protein features

start (aa)	end (aa)	feature	details
610	623	MOTIF	Bipartite nuclear localization signal (Probable).	might get lost (downstream of altered splice site)
622	623	MUTAGEN	KK->AA: Partial nuclear accumulation upon LMB treatment.	might get lost (downstream of altered splice site)
826	836	MOTIF	PDZ-binding (By similarity).	might get lost (downstream of altered splice site)
827	827	MOD_RES	Phosphoserine; by PKA.	might get lost (downstream of altered splice site)
827	827	MUTAGEN	S->A: Abolishes interaction with YWHAB; when associated with A-237.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

2481 / 2481

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

814 / 814

chromosome

strand

last intron/exon boundary

716

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1668

coding sequence (CDS) position

1246

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

2059

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

12746

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

59113430

original gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered gDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

original cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG

altered cDNA sequence snippet

CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG

wildtype AA sequence

mutated AA sequence

MFLLCLTGNP LREEDRLGNH ASDICGGSEL DAVKTDSSLP SPSSLWSASH PSSSKKMDGY
ILSLVQKKTH PVRTNKPRTS VNADPTKGLL RNGSVCVRAP GGVSQGNSVN LKNSKQACLP
SGGIPSLNNG TFSPPKQWSK ESKAEQAESK RVPLPEGCPS GAASDLQSKH LPKTAKPASQ
EHARCSAIGT GESPKESAQL SGASPKESPS RGPAPPQENK VVQPLKKMSQ KNSLQGVPPA
TPPLLSTAFP VEERPALDFK SEGSSQSLEE AHLVKAQFIP GQQPSVRLHR GHRNMGVVKN
SSLKHRGPAL QGLENGLPTV REKTRAGSKK CRFPDDLDTN KKLKKASSKG RKSGGGPEAG
VPGRPAGGGH RAGSRAHGHG REAVVAKPKH KRTDYRRWKS SAEISYEEAL RRARRSRREN
VGLYPAPVPL PYASPYAYVA SDSEYSAECE SLFHSTVVDT SEDEQSNYTT NCFGDSESSV
SEGEFVGEST TTSDSEESGG LIWSQFVQTL PIQTVTAPDL HNHPAKTFVK IKASHNLKKK
ILRFRSGSLK LMTTV*

speed

1.07 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

Problems