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: ENST00000377577
Querying Taster for transcript #2: ENST00000294401
Querying Taster for transcript #3: ENST00000349363
Querying Taster for transcript #4: ENST00000542246
Querying Taster for transcript #5: ENST00000377573
MT speed 0 s - this script 5.586417 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DNAJC11	polymorphism_automatic	0.994414917275341	simple_aae		affected		T290S	single base exchange	rs200454		show file
DNAJC11	polymorphism_automatic	0.994414917275341	simple_aae		affected		T290S	single base exchange	rs200454		show file
DNAJC11	polymorphism_automatic	0.994414917275341	simple_aae		affected		T252S	single base exchange	rs200454		show file
DNAJC11	polymorphism_automatic	0.994414917275341	simple_aae		affected		T200S	single base exchange	rs200454		show file
DNAJC11	polymorphism_automatic	1	without_aae		affected			single base exchange	rs200454		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00558508272465931 (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)

chr1:6705874G>CN/A show variant in all transcripts IGV

HGNC symbol

DNAJC11

Ensembl transcript ID

ENST00000377577

Genbank transcript ID

NM_018198

UniProt peptide

Q9NVH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.869C>G
cDNA.993C>G
g.56111C>G

AA changes

T290S Score: 58 explain score(s)

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

290

frameshift

known variant

Reference ID: rs200454

database	homozygous (C/C)	heterozygous	allele carriers
1000G	107	593	700
ExAC	3779	19012	22791

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.761	1
	1.832	1
(flanking)	2.863	1

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	56105	wt: 0.21 / mu: 0.94	wt: AGACACTAAAACCAG mu: AGACACTAAAAGCAG	ACAC\|taaa
Donor gained	56110	0.72	mu: CTAAAAGCAGCCACT	AAAA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

290

mutated

all conserved

290

Ptroglodytes

all identical

ENSPTRG00000000094

290

Mmulatta

all identical

ENSMMUG00000004686

266

Fcatus

all identical

ENSFCAG00000000663

266

Mmusculus

all identical

ENSMUSG00000039768

290

Ggallus

all identical

ENSGALG00000000627

292

Trubripes

all conserved

ENSTRUG00000013526

290

Drerio

no homologue

Dmelanogaster

all identical

FBgn0033918

281

Celegans

not conserved

F11G11.7

292

LTLS

Xtropicalis

not conserved

ENSXETG00000011143

290

protein features

start (aa)	end (aa)	feature	details
309	309	CONFLICT	S -> I (in Ref. 1; BAA91780).	might get lost (downstream of altered splice site)
417	457	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1680 / 1680

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

560 / 560

position of stopcodon in wt / mu cDNA

1804 / 1804

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

125 / 125

chromosome

strand

-1

last intron/exon boundary

1779

theoretical NMD boundary in CDS

1604

length of CDS

1680

coding sequence (CDS) position

869

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

993

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

56111

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

6705874

original gDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered gDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

original cDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered cDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

wildtype AA sequence

MATALSEEEL DNEDYYSLLN VRREASSEEL KAAYRRLCML YHPDKHRDPE LKSQAERLFN
LVHQAYEVLS DPQTRAIYDI YGKRGLEMEG WEVVERRRTP AEIREEFERL QREREERRLQ
QRTNPKGTIS VGVDATDLFD RYDEEYEDVS GSSFPQIEIN KMHISQSIEA PLTATDTAIL
SGSLSTQNGN GGGSINFALR RVTSAKGWGE LEFGAGDLQG PLFGLKLFRN LTPRCFVTTN
CALQFSSRGI RPGLTTVLAR NLDKNTVGYL QWRWGIQSAM NTSIVRDTKT SHFTVALQLG
IPHSFALISY QHKFQDDDQT RVKGSLKAGF FGTVVEYGAE RKISRHSVLG AAVSVGVPQG
VSLKVKLNRA SQTYFFPIHL TDQLLPSAMF YATVGPLVVY FAMHRLIIKP YLRAQKEKEL
EKQRESAATD VLQKKQEAES AVRLMQESVR RIIEAEESRM GLIIVNAWYG KFVNDKSRKS
EKVKVIDVTV PLQCLVKDSK LILTEASKAG LPGFYDPCVG EEKNLKVLYQ FRGVLHQVMV
LDSEALRIPK QSHRIDTDG*

mutated AA sequence

MATALSEEEL DNEDYYSLLN VRREASSEEL KAAYRRLCML YHPDKHRDPE LKSQAERLFN
LVHQAYEVLS DPQTRAIYDI YGKRGLEMEG WEVVERRRTP AEIREEFERL QREREERRLQ
QRTNPKGTIS VGVDATDLFD RYDEEYEDVS GSSFPQIEIN KMHISQSIEA PLTATDTAIL
SGSLSTQNGN GGGSINFALR RVTSAKGWGE LEFGAGDLQG PLFGLKLFRN LTPRCFVTTN
CALQFSSRGI RPGLTTVLAR NLDKNTVGYL QWRWGIQSAM NTSIVRDTKS SHFTVALQLG
IPHSFALISY QHKFQDDDQT RVKGSLKAGF FGTVVEYGAE RKISRHSVLG AAVSVGVPQG
VSLKVKLNRA SQTYFFPIHL TDQLLPSAMF YATVGPLVVY FAMHRLIIKP YLRAQKEKEL
EKQRESAATD VLQKKQEAES AVRLMQESVR RIIEAEESRM GLIIVNAWYG KFVNDKSRKS
EKVKVIDVTV PLQCLVKDSK LILTEASKAG LPGFYDPCVG EEKNLKVLYQ FRGVLHQVMV
LDSEALRIPK QSHRIDTDG*

speed

1.28 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: 0.00558508272465931 (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)

chr1:6705874G>CN/A show variant in all transcripts IGV

HGNC symbol

DNAJC11

Ensembl transcript ID

ENST00000294401

Genbank transcript ID

N/A

UniProt peptide

Q9NVH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.869C>G
cDNA.993C>G
g.56111C>G

AA changes

T290S Score: 58 explain score(s)

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

290

frameshift

known variant

Reference ID: rs200454

database	homozygous (C/C)	heterozygous	allele carriers
1000G	107	593	700
ExAC	3779	19012	22791

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.761	1
	1.832	1
(flanking)	2.863	1

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	56105	wt: 0.21 / mu: 0.94	wt: AGACACTAAAACCAG mu: AGACACTAAAAGCAG	ACAC\|taaa
Donor gained	56110	0.72	mu: CTAAAAGCAGCCACT	AAAA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

290

mutated

all conserved

290

Ptroglodytes

all identical

ENSPTRG00000000094

290

Mmulatta

all identical

ENSMMUG00000004686

266

Fcatus

all identical

ENSFCAG00000000663

266

Mmusculus

all identical

ENSMUSG00000039768

290

Ggallus

all identical

ENSGALG00000000627

292

Trubripes

all conserved

ENSTRUG00000013526

290

Drerio

no homologue

Dmelanogaster

all identical

FBgn0033918

281

Celegans

not conserved

F11G11.7

292

LTLS

Xtropicalis

not conserved

ENSXETG00000011143

290

protein features

start (aa)	end (aa)	feature	details
309	309	CONFLICT	S -> I (in Ref. 1; BAA91780).	might get lost (downstream of altered splice site)
417	457	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1524 / 1524

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

508 / 508

position of stopcodon in wt / mu cDNA

1648 / 1648

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

125 / 125

chromosome

strand

-1

last intron/exon boundary

1623

theoretical NMD boundary in CDS

1448

length of CDS

1524

coding sequence (CDS) position

869

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

993

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

56111

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

6705874

original gDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered gDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

original cDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered cDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

wildtype AA sequence

MATALSEEEL DNEDYYSLLN VRREASSEEL KAAYRRLCML YHPDKHRDPE LKSQAERLFN
LVHQAYEVLS DPQTRAIYDI YGKRGLEMEG WEVVERRRTP AEIREEFERL QREREERRLQ
QRTNPKGTIS VGVDATDLFD RYDEEYEDVS GSSFPQIEIN KMHISQSIEA PLTATDTAIL
SGSLSTQNGN GGGSINFALR RVTSAKGWGE LEFGAGDLQG PLFGLKLFRN LTPRCFVTTN
CALQFSSRGI RPGLTTVLAR NLDKNTVGYL QWRWGIQSAM NTSIVRDTKT SHFTVALQLG
IPHSFALISY QHKFQDDDQT RVKGSLKAGF FGTVVEYGAE RKISRHSVLG AAVSVGVPQG
VSLKVKELEK QRESAATDVL QKKQEAESAV RLMQESVRRI IEAEESRMGL IIVNAWYGKF
VNDKSRKSEK VKVIDVTVPL QCLVKDSKLI LTEASKAGLP GFYDPCVGEE KNLKVLYQFR
GVLHQVMVLD SEALRIPKQS HRIDTDG*

mutated AA sequence

MATALSEEEL DNEDYYSLLN VRREASSEEL KAAYRRLCML YHPDKHRDPE LKSQAERLFN
LVHQAYEVLS DPQTRAIYDI YGKRGLEMEG WEVVERRRTP AEIREEFERL QREREERRLQ
QRTNPKGTIS VGVDATDLFD RYDEEYEDVS GSSFPQIEIN KMHISQSIEA PLTATDTAIL
SGSLSTQNGN GGGSINFALR RVTSAKGWGE LEFGAGDLQG PLFGLKLFRN LTPRCFVTTN
CALQFSSRGI RPGLTTVLAR NLDKNTVGYL QWRWGIQSAM NTSIVRDTKS SHFTVALQLG
IPHSFALISY QHKFQDDDQT RVKGSLKAGF FGTVVEYGAE RKISRHSVLG AAVSVGVPQG
VSLKVKELEK QRESAATDVL QKKQEAESAV RLMQESVRRI IEAEESRMGL IIVNAWYGKF
VNDKSRKSEK VKVIDVTVPL QCLVKDSKLI LTEASKAGLP GFYDPCVGEE KNLKVLYQFR
GVLHQVMVLD SEALRIPKQS HRIDTDG*

speed

1.32 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00558508272465931 (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)

chr1:6705874G>CN/A show variant in all transcripts IGV

HGNC symbol

DNAJC11

Ensembl transcript ID

ENST00000542246

Genbank transcript ID

N/A

UniProt peptide

Q9NVH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.755C>G
cDNA.861C>G
g.56111C>G

AA changes

T252S Score: 58 explain score(s)

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

252

frameshift

known variant

Reference ID: rs200454

database	homozygous (C/C)	heterozygous	allele carriers
1000G	107	593	700
ExAC	3779	19012	22791

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.761	1
	1.832	1
(flanking)	2.863	1

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	56105	wt: 0.21 / mu: 0.94	wt: AGACACTAAAACCAG mu: AGACACTAAAAGCAG	ACAC\|taaa
Donor gained	56110	0.72	mu: CTAAAAGCAGCCACT	AAAA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

252

mutated

all conserved

252

Ptroglodytes

all identical

ENSPTRG00000000094

290

Mmulatta

all identical

ENSMMUG00000004686

266

Fcatus

all identical

ENSFCAG00000000663

266

Mmusculus

all identical

ENSMUSG00000039768

290

Ggallus

all identical

ENSGALG00000000627

292

Trubripes

all conserved

ENSTRUG00000013526

290

Drerio

no homologue

Dmelanogaster

all identical

FBgn0033918

281

Celegans

not conserved

F11G11.7

294

LTLS

Xtropicalis

not conserved

ENSXETG00000011143

290

protein features

start (aa)	end (aa)	feature	details
309	309	CONFLICT	S -> I (in Ref. 1; BAA91780).	might get lost (downstream of altered splice site)
417	457	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1566 / 1566

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

522 / 522

position of stopcodon in wt / mu cDNA

1672 / 1672

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

107 / 107

chromosome

strand

-1

last intron/exon boundary

1647

theoretical NMD boundary in CDS

1490

length of CDS

1566

coding sequence (CDS) position

755

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

861

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

56111

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

6705874

original gDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered gDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

original cDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered cDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

wildtype AA sequence

MLYHPDKHRD PELKSQAERL FNLVHQAYEV LSDPQTRAIY DIYGKRGLEM EGWEVVERRR
TPAEIREEFE RLQREREERR LQQRTNPKGT ISVGVDATDL FDRYDEEYED VSGSSFPQIE
INKMHISQSI EAPLTATDTA ILSGSLSTQN GNGGGSINFA LRRVTSAKGW GELEFGAGDL
QGPLFGLKLF RNLTPRCFVT TNCALQFSSR GIRPGLTTVL ARNLDKNTVG YLQWRWGIQS
AMNTSIVRDT KTSHFTVALQ LGIPHSFALI SYQHKFQDDD QTRVKGSLKA GFFGTVVEYG
AERKISRHSV LGAAVSVGVP QGVSLKVKLN RASQTYFFPI HLTDQLLPSA MFYATVGPLV
VYFAMHRLII KPYLRAQKEK ELEKQRESAA TDVLQKKQEA ESAVRLMQES VRRIIEAEES
RMGLIIVNAW YGKFVNDKSR KSEKVKVIDV TVPLQCLVKD SKLILTEASK AGLPGFYDPC
VGEEKNLKVL YQFRGVLHQV MVLDSEALRI PKQSHRIDTD G*

mutated AA sequence

MLYHPDKHRD PELKSQAERL FNLVHQAYEV LSDPQTRAIY DIYGKRGLEM EGWEVVERRR
TPAEIREEFE RLQREREERR LQQRTNPKGT ISVGVDATDL FDRYDEEYED VSGSSFPQIE
INKMHISQSI EAPLTATDTA ILSGSLSTQN GNGGGSINFA LRRVTSAKGW GELEFGAGDL
QGPLFGLKLF RNLTPRCFVT TNCALQFSSR GIRPGLTTVL ARNLDKNTVG YLQWRWGIQS
AMNTSIVRDT KSSHFTVALQ LGIPHSFALI SYQHKFQDDD QTRVKGSLKA GFFGTVVEYG
AERKISRHSV LGAAVSVGVP QGVSLKVKLN RASQTYFFPI HLTDQLLPSA MFYATVGPLV
VYFAMHRLII KPYLRAQKEK ELEKQRESAA TDVLQKKQEA ESAVRLMQES VRRIIEAEES
RMGLIIVNAW YGKFVNDKSR KSEKVKVIDV TVPLQCLVKD SKLILTEASK AGLPGFYDPC
VGEEKNLKVL YQFRGVLHQV MVLDSEALRI PKQSHRIDTD G*

speed

1.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00558508272465931 (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)

chr1:6705874G>CN/A show variant in all transcripts IGV

HGNC symbol

DNAJC11

Ensembl transcript ID

ENST00000377573

Genbank transcript ID

N/A

UniProt peptide

Q9NVH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.599C>G
cDNA.798C>G
g.56111C>G

AA changes

T200S Score: 58 explain score(s)

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

200

frameshift

known variant

Reference ID: rs200454

database	homozygous (C/C)	heterozygous	allele carriers
1000G	107	593	700
ExAC	3779	19012	22791

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.761	1
	1.832	1
(flanking)	2.863	1

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	56105	wt: 0.21 / mu: 0.94	wt: AGACACTAAAACCAG mu: AGACACTAAAAGCAG	ACAC\|taaa
Donor gained	56110	0.72	mu: CTAAAAGCAGCCACT	AAAA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

200

mutated

all conserved

200

Ptroglodytes

all identical

ENSPTRG00000000094

290

Mmulatta

all identical

ENSMMUG00000004686

266

Fcatus

all identical

ENSFCAG00000000663

266

Mmusculus

all identical

ENSMUSG00000039768

290

Ggallus

all identical

ENSGALG00000000627

292

Trubripes

all conserved

ENSTRUG00000013526

290

Drerio

no homologue

Dmelanogaster

all identical

FBgn0033918

281

Celegans

not conserved

F11G11.7

294

TLSP

Xtropicalis

not conserved

ENSXETG00000011143

290

protein features

start (aa)	end (aa)	feature	details
309	309	CONFLICT	S -> I (in Ref. 1; BAA91780).	might get lost (downstream of altered splice site)
417	457	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1410 / 1410

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

470 / 470

position of stopcodon in wt / mu cDNA

1609 / 1609

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

200 / 200

chromosome

strand

-1

last intron/exon boundary

1584

theoretical NMD boundary in CDS

1334

length of CDS

1410

coding sequence (CDS) position

599

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

798

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

56111

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

6705874

original gDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered gDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

original cDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered cDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

wildtype AA sequence

MKVVERRRTP AEIREEFERL QREREERRLQ QRTNPKGTIS VGVDATDLFD RYDEEYEDVS
GSSFPQIEIN KMHISQSIEA PLTATDTAIL SGSLSTQNGN GGGSINFALR RVTSAKGWGE
LEFGAGDLQG PLFGLKLFRN LTPRCFVTTN CALQFSSRGI RPGLTTVLAR NLDKNTVGYL
QWRWGIQSAM NTSIVRDTKT SHFTVALQLG IPHSFALISY QHKFQDDDQT RVKGSLKAGF
FGTVVEYGAE RKISRHSVLG AAVSVGVPQG VSLKVKLNRA SQTYFFPIHL TDQLLPSAMF
YATVGPLVVY FAMHRLIIKP YLRAQKEKEL EKQRESAATD VLQKKQEAES AVRLMQESVR
RIIEAEESRM GLIIVNAWYG KFVNDKSRKS EKVKVIDVTV PLQCLVKDSK LILTEASKAG
LPGFYDPCVG EEKNLKVLYQ FRGVLHQVMV LDSEALRIPK QSHRIDTDG*

mutated AA sequence

MKVVERRRTP AEIREEFERL QREREERRLQ QRTNPKGTIS VGVDATDLFD RYDEEYEDVS
GSSFPQIEIN KMHISQSIEA PLTATDTAIL SGSLSTQNGN GGGSINFALR RVTSAKGWGE
LEFGAGDLQG PLFGLKLFRN LTPRCFVTTN CALQFSSRGI RPGLTTVLAR NLDKNTVGYL
QWRWGIQSAM NTSIVRDTKS SHFTVALQLG IPHSFALISY QHKFQDDDQT RVKGSLKAGF
FGTVVEYGAE RKISRHSVLG AAVSVGVPQG VSLKVKLNRA SQTYFFPIHL TDQLLPSAMF
YATVGPLVVY FAMHRLIIKP YLRAQKEKEL EKQRESAATD VLQKKQEAES AVRLMQESVR
RIIEAEESRM GLIIVNAWYG KFVNDKSRKS EKVKVIDVTV PLQCLVKDSK LILTEASKAG
LPGFYDPCVG EEKNLKVLYQ FRGVLHQVMV LDSEALRIPK QSHRIDTDG*

speed

0.89 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 2.78401105541849e-18 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr1:6705874G>CN/A show variant in all transcripts IGV

HGNC symbol

DNAJC11

Ensembl transcript ID

ENST00000349363

Genbank transcript ID

N/A

UniProt peptide

Q9NVH1

alteration type

single base exchange

alteration region

intron

DNA changes

g.56111C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs200454

database	homozygous (C/C)	heterozygous	allele carriers
1000G	107	593	700
ExAC	3779	19012	22791

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.761	1
	1.832	1
(flanking)	2.863	1

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	56105	wt: 0.21 / mu: 0.94	wt: AGACACTAAAACCAG mu: AGACACTAAAAGCAG	ACAC\|taaa
Donor gained	56110	0.72	mu: CTAAAAGCAGCCACT	AAAA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
309	309	CONFLICT	S -> I (in Ref. 1; BAA91780).	might get lost (downstream of altered splice site)
417	457	COILED	Potential.	might get lost (downstream of altered splice site)

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

43 / 43

chromosome

strand

-1

last intron/exon boundary

741

theoretical NMD boundary in CDS

648

length of CDS

957

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)

56111

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

6705874

original gDNA sequence snippet

CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC

altered gDNA sequence snippet

CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

1.02 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