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: ENST00000542838
Querying Taster for transcript #2: ENST00000228264
Querying Taster for transcript #3: ENST00000545668
Querying Taster for transcript #4: ENST00000350437
Querying Taster for transcript #5: ENST00000407793
Querying Taster for transcript #6: ENST00000251758
MT speed 4.67 s - this script 5.330834 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DDX11	polymorphism_automatic	1.05837342800896e-06	simple_aae		affected		Q567E	single base exchange	rs2075322		show file
DDX11	polymorphism_automatic	1.05837342800896e-06	simple_aae		affected		Q541E	single base exchange	rs2075322		show file
DDX11	polymorphism_automatic	1.05837342800896e-06	simple_aae		affected		Q567E	single base exchange	rs2075322		show file
DDX11	polymorphism_automatic	1.05837342800896e-06	simple_aae		affected		Q567E	single base exchange	rs2075322		show file
DDX11	polymorphism_automatic	1.05837342800896e-06	simple_aae		affected		Q567E	single base exchange	rs2075322		show file
DDX11	polymorphism_automatic	0.999999999999992	without_aae		affected			single base exchange	rs2075322		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998941626572 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31249861C>GN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000542838

Genbank transcript ID

NM_030653

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1699C>G
cDNA.1950C>G
g.23083C>G

AA changes

Q567E Score: 29 explain score(s)

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

567

frameshift

known variant

Reference ID: rs2075322

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1095	1021	2116
ExAC	17935	-3103	14832

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.659	0.655
	1.548	0.97
(flanking)	3.2	0.999

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 increased	23079	wt: 0.35 / mu: 0.45	wt: CCAGCTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGC mu: CCAGCTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGC	gcac\|ATCC
Donor marginally increased	23080	wt: 0.9915 / mu: 0.9935 (marginal change - not scored)	wt: TGCACATCCAAGGCT mu: TGCACATCGAAGGCT	CACA\|tcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

567

mutated

all conserved

567

Ptroglodytes

all conserved

ENSPTRG00000004804

567

Mmulatta

all conserved

ENSMMUG00000022864

567

Fcatus

all conserved

ENSFCAG00000016277

569

Mmusculus

all conserved

ENSMUSG00000035842

542

Ggallus

all conserved

ENSGALG00000012969

570

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000011072

552

PIM

Dmelanogaster

not conserved

FBgn0026876

529

VEEVAP

Celegans

all conserved

M03C11.2

511

Xtropicalis

all conserved

ENSXETG00000003629

550

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2721 / 2721

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

907 / 907

position of stopcodon in wt / mu cDNA

2972 / 2972

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

252 / 252

chromosome

strand

last intron/exon boundary

2943

theoretical NMD boundary in CDS

2641

length of CDS

2721

coding sequence (CDS) position

1699

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

1950

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

23083

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

31249861

original gDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered gDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

original cDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered cDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

wildtype AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK ALVENLCMKA
VNQSIGRAIR HQKDFASVVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP AIAAVQKFHR
EKSASS*

mutated AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIEGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK ALVENLCMKA
VNQSIGRAIR HQKDFASVVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP AIAAVQKFHR
EKSASS*

speed

0.45 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: 0.999998941626572 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31249861C>GN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000228264

Genbank transcript ID

NM_001257145

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1621C>G
cDNA.1740C>G
g.23083C>G

AA changes

Q541E Score: 29 explain score(s)

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

541

frameshift

known variant

Reference ID: rs2075322

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1095	1021	2116
ExAC	17935	-3103	14832

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.659	0.655
	1.548	0.97
(flanking)	3.2	0.999

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 increased	23079	wt: 0.35 / mu: 0.45	wt: CCAGCTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGC mu: CCAGCTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGC	gcac\|ATCC
Donor marginally increased	23080	wt: 0.9915 / mu: 0.9935 (marginal change - not scored)	wt: TGCACATCCAAGGCT mu: TGCACATCGAAGGCT	CACA\|tcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

541

mutated

all conserved

541

Ptroglodytes

all conserved

ENSPTRG00000004804

567

Mmulatta

all conserved

ENSMMUG00000022864

567

Fcatus

all conserved

ENSFCAG00000016277

569

Mmusculus

all conserved

ENSMUSG00000035842

539

Ggallus

all conserved

ENSGALG00000012969

572

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000011072

548

PIM

Dmelanogaster

not conserved

FBgn0026876

536

VEEVAP

Celegans

all conserved

M03C11.2

510

Xtropicalis

all conserved

ENSXETG00000003629

553

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2643 / 2643

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

881 / 881

position of stopcodon in wt / mu cDNA

2762 / 2762

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

120 / 120

chromosome

strand

last intron/exon boundary

2733

theoretical NMD boundary in CDS

2563

length of CDS

2643

coding sequence (CDS) position

1621

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

1740

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

23083

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

31249861

original gDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered gDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

original cDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered cDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

wildtype AA sequence

MAELYRVLEA GKIGIFESPT GTGKSLSLIC GALSWLRDFE QKKREEEARL LETGTGPLHD
EKDESLCLSS SCEGAAGTPR PAGEPAWVTQ FVQKKEERDL VDRLKAEQAR RKQREERLQQ
LQHRVQLKYA AKRLRQEEEE RENLLRLSRE MLETGPEAER LEQLESGEEE LVLAEYESDE
EKKVASRVDE DEDDLEEEHI TKIYYCSRTH SQLAQFVHEV KKSPFGKDVR LVSLGSRQNL
CVNEDVKSLG SVQLINDRCV DMQRSRHEKK KGAEEEKPKR RRQEKQAACP FYNHEQMGLL
RDEALAEVKD MEQLLALGKE ARACPYYGSR LAIPAAQLVV LPYQMLLHAA TRQAAGIRLQ
DQVVIIDEAH NLIDTITGMH SVEVSGSQLC QAHSQLLQYV ERYGKRLKAK NLMYLKQILY
LLEKFVAVLG GNIKQNPNTQ SLSQTGTELK TINDFLFQSQ IDNINLFKVQ RYCEKSMISR
KLFGFTERYG AVFSSREQPK LAGFQQFLQS LQPRTTEALA APADESQAST LRPASPLMHI
QGFLAALTTA NQDGRVILSR QGSLSQSTLK FLLLNPAVHF AQVVKECRAV VIAGGTMQPV
SDFRQQLLAC AGVEAERVVE FSCGHVIPPD NILPLVICSG ISNQPLEFTF QKRELPQMMD
EVGRILCNLC GVVPGGVVCF FPSYEYLRQV HAHWEKGGLL GRLAARKKIF QEPKSAHQVE
QVLLAYSRCI QACGQERGQV TGALLLSVVG GKMSEGINFS DNLGRCVVMV GMPFPNIRSA
ELQEKMAYLD QTLPRAPGQA PPGKALVENL CMKAVNQSIG RAIRHQKDFA SVVLLDQRYA
RPPVLAKLPA WIRARVEVKA TFGPAIAAVQ KFHREKSASS *

mutated AA sequence

MAELYRVLEA GKIGIFESPT GTGKSLSLIC GALSWLRDFE QKKREEEARL LETGTGPLHD
EKDESLCLSS SCEGAAGTPR PAGEPAWVTQ FVQKKEERDL VDRLKAEQAR RKQREERLQQ
LQHRVQLKYA AKRLRQEEEE RENLLRLSRE MLETGPEAER LEQLESGEEE LVLAEYESDE
EKKVASRVDE DEDDLEEEHI TKIYYCSRTH SQLAQFVHEV KKSPFGKDVR LVSLGSRQNL
CVNEDVKSLG SVQLINDRCV DMQRSRHEKK KGAEEEKPKR RRQEKQAACP FYNHEQMGLL
RDEALAEVKD MEQLLALGKE ARACPYYGSR LAIPAAQLVV LPYQMLLHAA TRQAAGIRLQ
DQVVIIDEAH NLIDTITGMH SVEVSGSQLC QAHSQLLQYV ERYGKRLKAK NLMYLKQILY
LLEKFVAVLG GNIKQNPNTQ SLSQTGTELK TINDFLFQSQ IDNINLFKVQ RYCEKSMISR
KLFGFTERYG AVFSSREQPK LAGFQQFLQS LQPRTTEALA APADESQAST LRPASPLMHI
EGFLAALTTA NQDGRVILSR QGSLSQSTLK FLLLNPAVHF AQVVKECRAV VIAGGTMQPV
SDFRQQLLAC AGVEAERVVE FSCGHVIPPD NILPLVICSG ISNQPLEFTF QKRELPQMMD
EVGRILCNLC GVVPGGVVCF FPSYEYLRQV HAHWEKGGLL GRLAARKKIF QEPKSAHQVE
QVLLAYSRCI QACGQERGQV TGALLLSVVG GKMSEGINFS DNLGRCVVMV GMPFPNIRSA
ELQEKMAYLD QTLPRAPGQA PPGKALVENL CMKAVNQSIG RAIRHQKDFA SVVLLDQRYA
RPPVLAKLPA WIRARVEVKA TFGPAIAAVQ KFHREKSASS *

speed

1.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998941626572 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31249861C>GN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000545668

Genbank transcript ID

NM_001257144

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1699C>G
cDNA.1779C>G
g.23083C>G

AA changes

Q567E Score: 29 explain score(s)

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

567

frameshift

known variant

Reference ID: rs2075322

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1095	1021	2116
ExAC	17935	-3103	14832

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.659	0.655
	1.548	0.97
(flanking)	3.2	0.999

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 increased	23079	wt: 0.35 / mu: 0.45	wt: CCAGCTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGC mu: CCAGCTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGC	gcac\|ATCC
Donor marginally increased	23080	wt: 0.9915 / mu: 0.9935 (marginal change - not scored)	wt: TGCACATCCAAGGCT mu: TGCACATCGAAGGCT	CACA\|tcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

567

mutated

all conserved

567

Ptroglodytes

all conserved

ENSPTRG00000004804

567

Mmulatta

all conserved

ENSMMUG00000022864

567

Fcatus

all conserved

ENSFCAG00000016277

569

Mmusculus

all conserved

ENSMUSG00000035842

542

Ggallus

all conserved

ENSGALG00000012969

570

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000011072

552

PIM

Dmelanogaster

not conserved

FBgn0026876

529

VEEVAP

Celegans

all conserved

M03C11.2

511

Xtropicalis

all conserved

ENSXETG00000003629

550

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2913 / 2913

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

971 / 971

position of stopcodon in wt / mu cDNA

2993 / 2993

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

81 / 81

chromosome

strand

last intron/exon boundary

2767

theoretical NMD boundary in CDS

2636

length of CDS

2913

coding sequence (CDS) position

1699

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

1779

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

23083

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

31249861

original gDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered gDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

original cDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered cDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

wildtype AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *

mutated AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIEGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *

speed

0.54 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998941626572 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31249861C>GN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000350437

Genbank transcript ID

NM_004399

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1699C>G
cDNA.1897C>G
g.23083C>G

AA changes

Q567E Score: 29 explain score(s)

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

567

frameshift

known variant

Reference ID: rs2075322

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1095	1021	2116
ExAC	17935	-3103	14832

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.659	0.655
	1.548	0.97
(flanking)	3.2	0.999

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 increased	23079	wt: 0.35 / mu: 0.45	wt: CCAGCTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGC mu: CCAGCTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGC	gcac\|ATCC
Donor marginally increased	23080	wt: 0.9915 / mu: 0.9935 (marginal change - not scored)	wt: TGCACATCCAAGGCT mu: TGCACATCGAAGGCT	CACA\|tcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

567

mutated

all conserved

567

Ptroglodytes

all conserved

ENSPTRG00000004804

567

Mmulatta

all conserved

ENSMMUG00000022864

567

Fcatus

all conserved

ENSFCAG00000016277

569

Mmusculus

all conserved

ENSMUSG00000035842

542

Ggallus

all conserved

ENSGALG00000012969

570

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000011072

552

PIM

Dmelanogaster

not conserved

FBgn0026876

529

VEEVAP

Celegans

all conserved

M03C11.2

511

Xtropicalis

all conserved

ENSXETG00000003629

550

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2571 / 2571

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

857 / 857

position of stopcodon in wt / mu cDNA

2769 / 2769

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

199 / 199

chromosome

strand

last intron/exon boundary

2740

theoretical NMD boundary in CDS

2491

length of CDS

2571

coding sequence (CDS) position

1699

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

1897

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

23083

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

31249861

original gDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered gDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

original cDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered cDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

wildtype AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL
LLSVVGGKMS EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK
ALVENLCMKA VNQSIGRAIR HQKDFASVVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP
AIAAVQKFHR EKSASS*

mutated AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIEGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL
LLSVVGGKMS EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLP RAPGQAPPGK
ALVENLCMKA VNQSIGRAIR HQKDFASVVL LDQRYARPPV LAKLPAWIRA RVEVKATFGP
AIAAVQKFHR EKSASS*

speed

0.53 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998941626572 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31249861C>GN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000407793

Genbank transcript ID

NM_152438

UniProt peptide

Q96FC9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1699C>G
cDNA.1950C>G
g.23083C>G

AA changes

Q567E Score: 29 explain score(s)

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

567

frameshift

known variant

Reference ID: rs2075322

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1095	1021	2116
ExAC	17935	-3103	14832

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.659	0.655
	1.548	0.97
(flanking)	3.2	0.999

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 increased	23079	wt: 0.35 / mu: 0.45	wt: CCAGCTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGC mu: CCAGCTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGC	gcac\|ATCC
Donor marginally increased	23080	wt: 0.9915 / mu: 0.9935 (marginal change - not scored)	wt: TGCACATCCAAGGCT mu: TGCACATCGAAGGCT	CACA\|tcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

567

mutated

all conserved

567

Ptroglodytes

all conserved

ENSPTRG00000004804

567

Mmulatta

all conserved

ENSMMUG00000022864

567

Fcatus

all conserved

ENSFCAG00000016277

569

Mmusculus

all conserved

ENSMUSG00000035842

542

Ggallus

all conserved

ENSGALG00000012969

570

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000011072

552

PIM

Dmelanogaster

not conserved

FBgn0026876

529

VEEVAP

Celegans

all conserved

M03C11.2

511

Xtropicalis

all conserved

ENSXETG00000003629

550

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2913 / 2913

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

971 / 971

position of stopcodon in wt / mu cDNA

3164 / 3164

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

252 / 252

chromosome

strand

last intron/exon boundary

2938

theoretical NMD boundary in CDS

2636

length of CDS

2913

coding sequence (CDS) position

1699

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

1950

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

23083

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

31249861

original gDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered gDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

original cDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered cDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

wildtype AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIQGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *

mutated AA sequence

MANETQKVGA IHFPFPFTPY SIQEDFMAEL YRVLEAGKIG IFESPTGTGK SLSLICGALS
WLRDFEQKKR EEEARLLETG TGPLHDEKDE SLCLSSSCEG AAGTPRPAGE PAWVTQFVQK
KEERDLVDRL KAEQARRKQR EERLQQLQHR VQLKYAAKRL RQEEEERENL LRLSREMLET
GPEAERLEQL ESGEEELVLA EYESDEEKKV ASRVDEDEDD LEEEHITKIY YCSRTHSQLA
QFVHEVKKSP FGKDVRLVSL GSRQNLCVNE DVKSLGSVQL INDRCVDMQR SRHEKKKGAE
EEKPKRRRQE KQAACPFYNH EQMGLLRDEA LAEVKDMEQL LALGKEARAC PYYGSRLAIP
AAQLVVLPYQ MLLHAATRQA AGIRLQDQVV IIDEAHNLID TITGMHSVEV SGSQLCQAHS
QLLQYVERYG KRLKAKNLMY LKQILYLLEK FVAVLGGNIK QNPNTQSLSQ TGTELKTIND
FLFQSQIDNI NLFKVQRYCE KSMISRKLFG FTERYGAVFS SREQPKLAGF QQFLQSLQPR
TTEALAAPAD ESQASTLRPA SPLMHIEGFL AALTTANQDG RVILSRQGSL SQSTLKFLLL
NPAVHFAQVV KECRAVVIAG GTMQPVSDFR QQLLACAGVE AERVVEFSCG HVIPPDNILP
LVICSGISNQ PLEFTFQKRE LPQMMDEVGR ILCNLCGVVP GGVVCFFPSY EYLRQVHAHW
EKGGLLGRLA ARKKIFQEPK SAHQVEQVLL AYSRCIQACG QERGQVTGAL LLSVVGGKMS
EGINFSDNLG RCVVMVGMPF PNIRSAELQE KMAYLDQTLS PRPGTPREGS GGEPVHEGRQ
PVHRQGHQAP EGFCQRSAPG PAICPAPCPG QAAGLDPSPC GGQSYLWPRH CCCAEVSPGE
VGLFLMGNHT TAWRRALPLS CPLETVFVVG VVCGDPVTKV KPRRRVWSPE CCQDPGTGVS
SRRRKWGNPE *

speed

1.40 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 8.12104166225671e-15 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:31249861C>GN/A show variant in all transcripts IGV

HGNC symbol

DDX11

Ensembl transcript ID

ENST00000251758

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.2138C>G
g.23083C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2075322

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1095	1021	2116
ExAC	17935	-3103	14832

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.659	0.655
	1.548	0.97
(flanking)	3.2	0.999

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

splice sites

splice site change occurs after stopcodon (at aa 627)

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	23079	wt: 0.35 / mu: 0.45	wt: CCAGCTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGC mu: CCAGCTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGC	gcac\|ATCC
Donor marginally increased	23080	wt: 0.9915 / mu: 0.9935 (marginal change - not scored)	wt: TGCACATCCAAGGCT mu: TGCACATCGAAGGCT	CACA\|tcca

distance from splice site

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

252 / 252

chromosome

strand

last intron/exon boundary

3131

theoretical NMD boundary in CDS

2829

length of CDS

867

coding sequence (CDS) position

N/A

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

2138

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

23083

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

31249861

original gDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered gDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

original cDNA sequence snippet

CTTCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTC

altered cDNA sequence snippet

CTTCTCCACTGATGCACATCGAAGGCTTCCTGGCAGCTCTC

wildtype AA sequence

mutated AA sequence

N/A

speed

0.41 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