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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000361396
Querying Taster for transcript #2: ENST00000376829
Querying Taster for transcript #3: ENST00000347108
Querying Taster for transcript #4: ENST00000361156
MT speed 0 s - this script 2.674058 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DZIP1	polymorphism_automatic	0.000128771169202957	simple_aae				P736S	single base exchange	rs11070136		show file
DZIP1	polymorphism_automatic	0.000128771169202957	simple_aae				P717S	single base exchange	rs11070136		show file
DZIP1	polymorphism_automatic	0.000128771169202957	simple_aae				P736S	single base exchange	rs11070136		show file
DZIP1	polymorphism_automatic	0.000128771169202957	simple_aae				P717S	single base exchange	rs11070136		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999871228830797 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:96239805G>AN/A show variant in all transcripts IGV

HGNC symbol

DZIP1

Ensembl transcript ID

ENST00000376829

Genbank transcript ID

N/A

UniProt peptide

Q86YF9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2206C>T
cDNA.3058C>T
g.57153C>T

AA changes

P736S Score: 74 explain score(s)

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

736

frameshift

known variant

Reference ID: rs11070136

database	homozygous (A/A)	heterozygous	allele carriers
1000G	191	964	1155
ExAC	5818	21131	26949

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.297	0.874
	0.378	0.836
(flanking)	0.42	0.818

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
Acc marginally increased	57157	wt: 0.6438 / mu: 0.7059 (marginal change - not scored)	wt: GGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTGTTAC mu: GGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTGTTAC	ccaa\|GCCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

736

mutated

not conserved

736

Ptroglodytes

all identical

ENSPTRG00000005974

735

Mmulatta

all identical

ENSMMUG00000005839

735

Fcatus

not conserved

ENSFCAG00000002928

736

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000016895

682

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000000943

749

EINLSQLHKH

THSN

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031622

458

QWV

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2604 / 2604

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

868 / 868

position of stopcodon in wt / mu cDNA

3456 / 3456

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

853 / 853

chromosome

strand

-1

last intron/exon boundary

3377

theoretical NMD boundary in CDS

2474

length of CDS

2604

coding sequence (CDS) position

2206

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

3058

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

57153

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

96239805

original gDNA sequence snippet

TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTG

altered gDNA sequence snippet

TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTG

original cDNA sequence snippet

TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGAGTCGCC

altered cDNA sequence snippet

TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGAGTCGCC

wildtype AA sequence

MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKGNPLAW QAFESQPAAP AVPMNAPALH
TLETKSSLPM VHEQAFSSHI LEPIEELSEE EKGRENEQKL NNNKMHLRKA LKSNSSLTKG
LRTMVEQNLM EKLETLGINA DIRGISSDQL HRVLKSVESE RHKQEREIPN FHQIREFLEH
QVSCKIEEKA LLSSDQCSVS QMDTLSTGEV PKMIQLPSKN RQLIRQKAVS TDRTSVPKIK
KNVMEDPFPR KSSTITTPPF SSEEEQEDDD LIRAYASPGP LPVPPPQNKG SFGKNTVKSD
ADGTEGSEIE DTDDSPKPAG VAVKTPTEKV EKMFPHRKNV NKPVGGTNVP EMFIKKEELQ
ELKCADVEDE DWDISSLEEE ISLGKKSGKE QKEPPPAKNE PHFAHVLNAW GAFNPKGPKG
EGLQENESST LKSSLVTVTD WSDTSDV*

mutated AA sequence

MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKGNPLAW QAFESQPAAP AVPMNAPALH
TLETKSSLPM VHEQAFSSHI LEPIEELSEE EKGRENEQKL NNNKMHLRKA LKSNSSLTKG
LRTMVEQNLM EKLETLGINA DIRGISSDQL HRVLKSVESE RHKQEREIPN FHQIREFLEH
QVSCKIEEKA LLSSDQCSVS QMDTLSTGEV PKMIQLPSKN RQLIRQKAVS TDRTSVPKIK
KNVMEDPFPR KSSTITTPPF SSEEEQEDDD LIRAYASPGP LPVPPPQNKG SFGKNTVKSD
ADGTEGSEIE DTDDSSKPAG VAVKTPTEKV EKMFPHRKNV NKPVGGTNVP EMFIKKEELQ
ELKCADVEDE DWDISSLEEE ISLGKKSGKE QKEPPPAKNE PHFAHVLNAW GAFNPKGPKG
EGLQENESST LKSSLVTVTD WSDTSDV*

speed

0.30 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: 0.999871228830797 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:96239805G>AN/A show variant in all transcripts IGV

HGNC symbol

DZIP1

Ensembl transcript ID

ENST00000361396

Genbank transcript ID

N/A

UniProt peptide

Q86YF9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2149C>T
cDNA.2988C>T
g.57153C>T

AA changes

P717S Score: 74 explain score(s)

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

717

frameshift

known variant

Reference ID: rs11070136

database	homozygous (A/A)	heterozygous	allele carriers
1000G	191	964	1155
ExAC	5818	21131	26949

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.297	0.874
	0.378	0.836
(flanking)	0.42	0.818

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
Acc marginally increased	57157	wt: 0.6438 / mu: 0.7059 (marginal change - not scored)	wt: GGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTGTTAC mu: GGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTGTTAC	ccaa\|GCCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

717

mutated

not conserved

717

Ptroglodytes

all identical

ENSPTRG00000005974

735

Mmulatta

all identical

ENSMMUG00000005839

735

Fcatus

not conserved

ENSFCAG00000002928

736

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000016895

682

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000000943

756

THSN

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031622

458

QWV

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2547 / 2547

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

849 / 849

position of stopcodon in wt / mu cDNA

3386 / 3386

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

840 / 840

chromosome

strand

-1

last intron/exon boundary

3307

theoretical NMD boundary in CDS

2417

length of CDS

2547

coding sequence (CDS) position

2149

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

2988

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

57153

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

96239805

original gDNA sequence snippet

TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTG

altered gDNA sequence snippet

TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTG

original cDNA sequence snippet

TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGAGTCGCC

altered cDNA sequence snippet

TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGAGTCGCC

wildtype AA sequence

MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKVNAPAL HTLETKSSLP MVHEQAFSSH
ILEPIEELSE EEKGRENEQK LNNNKMHLRK ALKSNSSLTK GLRTMVEQNL MEKLETLGIN
ADIRGISSDQ LHRVLKSVES ERHKQEREIP NFHQIREFLE HQVSCKIEEK ALLSSDQCSV
SQMDTLSTGE VPKMIQLPSK NRQLIRQKAV STDRTSVPKI KKNVMEDPFP RKSSTITTPP
FSSEEEQEDD DLIRAYASPG PLPVPPPQNK GSFGKNTVKS DADGTEGSEI EDTDDSPKPA
GVAVKTPTEK VEKMFPHRKN VNKPVGGTNV PEMFIKKEEL QELKCADVED EDWDISSLEE
EISLGKKSGK EQKEPPPAKN EPHFAHVLNA WGAFNPKGPK GEGLQENESS TLKSSLVTVT
DWSDTSDV*

mutated AA sequence

MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKVNAPAL HTLETKSSLP MVHEQAFSSH
ILEPIEELSE EEKGRENEQK LNNNKMHLRK ALKSNSSLTK GLRTMVEQNL MEKLETLGIN
ADIRGISSDQ LHRVLKSVES ERHKQEREIP NFHQIREFLE HQVSCKIEEK ALLSSDQCSV
SQMDTLSTGE VPKMIQLPSK NRQLIRQKAV STDRTSVPKI KKNVMEDPFP RKSSTITTPP
FSSEEEQEDD DLIRAYASPG PLPVPPPQNK GSFGKNTVKS DADGTEGSEI EDTDDSSKPA
GVAVKTPTEK VEKMFPHRKN VNKPVGGTNV PEMFIKKEEL QELKCADVED EDWDISSLEE
EISLGKKSGK EQKEPPPAKN EPHFAHVLNA WGAFNPKGPK GEGLQENESS TLKSSLVTVT
DWSDTSDV*

speed

0.25 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999871228830797 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:96239805G>AN/A show variant in all transcripts IGV

HGNC symbol

DZIP1

Ensembl transcript ID

ENST00000347108

Genbank transcript ID

NM_198968

UniProt peptide

Q86YF9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2206C>T
cDNA.2639C>T
g.57153C>T

AA changes

P736S Score: 74 explain score(s)

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

736

frameshift

known variant

Reference ID: rs11070136

database	homozygous (A/A)	heterozygous	allele carriers
1000G	191	964	1155
ExAC	5818	21131	26949

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.297	0.874
	0.378	0.836
(flanking)	0.42	0.818

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
Acc marginally increased	57157	wt: 0.6438 / mu: 0.7059 (marginal change - not scored)	wt: GGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTGTTAC mu: GGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTGTTAC	ccaa\|GCCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

736

mutated

not conserved

736

Ptroglodytes

all identical

ENSPTRG00000005974

735

Mmulatta

all identical

ENSMMUG00000005839

735

Fcatus

not conserved

ENSFCAG00000002928

736

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000016895

682

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000000943

749

EINLSQLHKH

THSN

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031622

458

QWV

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2604 / 2604

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

868 / 868

position of stopcodon in wt / mu cDNA

3037 / 3037

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

434 / 434

chromosome

strand

-1

last intron/exon boundary

2958

theoretical NMD boundary in CDS

2474

length of CDS

2604

coding sequence (CDS) position

2206

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

2639

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

57153

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

96239805

original gDNA sequence snippet

TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTG

altered gDNA sequence snippet

TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTG

original cDNA sequence snippet

TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGAGTCGCC

altered cDNA sequence snippet

TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGAGTCGCC

wildtype AA sequence

mutated AA sequence

MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKGNPLAW QAFESQPAAP AVPMNAPALH
TLETKSSLPM VHEQAFSSHI LEPIEELSEE EKGRENEQKL NNNKMHLRKA LKSNSSLTKG
LRTMVEQNLM EKLETLGINA DIRGISSDQL HRVLKSVESE RHKQEREIPN FHQIREFLEH
QVSCKIEEKA LLSSDQCSVS QMDTLSTGEV PKMIQLPSKN RQLIRQKAVS TDRTSVPKIK
KNVMEDPFPR KSSTITTPPF SSEEEQEDDD LIRAYASPGP LPVPPPQNKG SFGKNTVKSD
ADGTEGSEIE DTDDSSKPAG VAVKTPTEKV EKMFPHRKNV NKPVGGTNVP EMFIKKEELQ
ELKCADVEDE DWDISSLEEE ISLGKKSGKE QKEPPPAKNE PHFAHVLNAW GAFNPKGPKG
EGLQENESST LKSSLVTVTD WSDTSDV*

speed

0.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999871228830797 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:96239805G>AN/A show variant in all transcripts IGV

HGNC symbol

DZIP1

Ensembl transcript ID

ENST00000361156

Genbank transcript ID

NM_014934

UniProt peptide

Q86YF9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2149C>T
cDNA.2582C>T
g.57153C>T

AA changes

P717S Score: 74 explain score(s)

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

717

frameshift

known variant

Reference ID: rs11070136

database	homozygous (A/A)	heterozygous	allele carriers
1000G	191	964	1155
ExAC	5818	21131	26949

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.297	0.874
	0.378	0.836
(flanking)	0.42	0.818

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
Acc marginally increased	57157	wt: 0.6438 / mu: 0.7059 (marginal change - not scored)	wt: GGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTGTTAC mu: GGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTGTTAC	ccaa\|GCCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

717

mutated

not conserved

717

Ptroglodytes

all identical

ENSPTRG00000005974

735

Mmulatta

all identical

ENSMMUG00000005839

735

Fcatus

not conserved

ENSFCAG00000002928

736

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000016895

682

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000000943

756

THSN

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031622

458

QWV

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2547 / 2547

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

849 / 849

position of stopcodon in wt / mu cDNA

2980 / 2980

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

434 / 434

chromosome

strand

-1

last intron/exon boundary

2901

theoretical NMD boundary in CDS

2417

length of CDS

2547

coding sequence (CDS) position

2149

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

2582

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

57153

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

96239805

original gDNA sequence snippet

TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGTGAGCTG

altered gDNA sequence snippet

TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGTGAGCTG

original cDNA sequence snippet

TCGAGGACACTGATGATTCTCCCAAGCCCGCAGGAGTCGCC

altered cDNA sequence snippet

TCGAGGACACTGATGATTCTTCCAAGCCCGCAGGAGTCGCC

wildtype AA sequence

MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKVNAPAL HTLETKSSLP MVHEQAFSSH
ILEPIEELSE EEKGRENEQK LNNNKMHLRK ALKSNSSLTK GLRTMVEQNL MEKLETLGIN
ADIRGISSDQ LHRVLKSVES ERHKQEREIP NFHQIREFLE HQVSCKIEEK ALLSSDQCSV
SQMDTLSTGE VPKMIQLPSK NRQLIRQKAV STDRTSVPKI KKNVMEDPFP RKSSTITTPP
FSSEEEQEDD DLIRAYASPG PLPVPPPQNK GSFGKNTVKS DADGTEGSEI EDTDDSPKPA
GVAVKTPTEK VEKMFPHRKN VNKPVGGTNV PEMFIKKEEL QELKCADVED EDWDISSLEE
EISLGKKSGK EQKEPPPAKN EPHFAHVLNA WGAFNPKGPK GEGLQENESS TLKSSLVTVT
DWSDTSDV*

mutated AA sequence

MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKVNAPAL HTLETKSSLP MVHEQAFSSH
ILEPIEELSE EEKGRENEQK LNNNKMHLRK ALKSNSSLTK GLRTMVEQNL MEKLETLGIN
ADIRGISSDQ LHRVLKSVES ERHKQEREIP NFHQIREFLE HQVSCKIEEK ALLSSDQCSV
SQMDTLSTGE VPKMIQLPSK NRQLIRQKAV STDRTSVPKI KKNVMEDPFP RKSSTITTPP
FSSEEEQEDD DLIRAYASPG PLPVPPPQNK GSFGKNTVKS DADGTEGSEI EDTDDSSKPA
GVAVKTPTEK VEKMFPHRKN VNKPVGGTNV PEMFIKKEEL QELKCADVED EDWDISSLEE
EISLGKKSGK EQKEPPPAKN EPHFAHVLNA WGAFNPKGPK GEGLQENESS TLKSSLVTVT
DWSDTSDV*

speed

0.16 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

Problems