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: ENST00000359206
Querying Taster for transcript #2: ENST00000265723
Querying Taster for transcript #3: ENST00000453593
Querying Taster for transcript #4: ENST00000358400
Querying Taster for transcript #5: ENST00000545634
MT speed 0 s - this script 4.527363 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABCB4	disease_causing	0.999999999897263	simple_aae		affected		P1161S	single base exchange	rs121918442		show file
ABCB4	disease_causing	0.999999999897263	simple_aae		affected		P1168S	single base exchange	rs121918442		show file
ABCB4	disease_causing	0.999999999897263	simple_aae		affected		P1114S	single base exchange	rs121918442		show file
ABCB4	disease_causing	0.999999999897263	simple_aae		affected		P1114S	single base exchange	rs121918442		show file
ABCB4	disease_causing	0.999999999897263	simple_aae		affected		P1161S	single base exchange	rs121918442		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999897263 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM013507)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87035609G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCB4

Ensembl transcript ID

ENST00000359206

Genbank transcript ID

N/A

UniProt peptide

P21439

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3481C>T
cDNA.3513C>T
g.74143C>T

AA changes

P1161S Score: 74 explain score(s)

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

1161

frameshift

known variant

Reference ID: rs121918442

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

known disease mutation at this position, please check HGMD for details (HGMD ID CM013507)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013507)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013507)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.172	1
	6.172	1
(flanking)	-0.452	0.752

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	74134	wt: 0.6410 / mu: 0.6690 (marginal change - not scored)	wt: CCAACATACATCCTTTCATCGAGACGTTACCCCACGTAAGT mu: CCAACATACATCCTTTCATCGAGACGTTATCCCACGTAAGT	atcg\|AGAC
Acc increased	74152	wt: 0.48 / mu: 0.60	wt: TCGAGACGTTACCCCACGTAAGTTAAAGAGTAGCTGAAATC mu: TCGAGACGTTATCCCACGTAAGTTAAAGAGTAGCTGAAATC	gtaa\|GTTA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1161

mutated

not conserved

1161

Ptroglodytes

all identical

ENSPTRG00000024082

1168

Mmulatta

all identical

ENSMMUG00000010788

1150

Fcatus

no alignment

ENSFCAG00000003276

n/a

Mmusculus

all identical

ENSMUSG00000042476

1158

Ggallus

all identical

ENSGALG00000023271

1136

Trubripes

not conserved

ENSTRUG00000005770

1192

Drerio

all identical

ENSDARG00000010936

1160

Dmelanogaster

all identical

FBgn0010241

1197

Celegans

all identical

C34G6.4

1155

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
995	1286	TOPO_DOM	Cytoplasmic (By similarity).	lost
1034	1279	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3840 / 3840

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

1280 / 1280

position of stopcodon in wt / mu cDNA

3872 / 3872

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

33 / 33

chromosome

strand

-1

last intron/exon boundary

3666

theoretical NMD boundary in CDS

3583

length of CDS

3840

coding sequence (CDS) position

3481

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

3513

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

74143

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

87035609

original gDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACGTAAGTTAAAGAGTA

altered gDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACGTAAGTTAAAGAGTA

original cDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACAAATATGAAACAAGA

altered cDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACAAATATGAAACAAGA

wildtype AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ
LLERFYDPLA GTVLLDGQEA KKLNVQWLRA QLGIVSQEPI LFDCSIAENI AYGDNSRVVS
QDEIVSAAKA ANIHPFIETL PHKYETRVGD KGTQLSGGQK QRIAIARALI RQPQILLLDE
ATSALDTESE KVVQEALDKA REGRTCIVIA HRLSTIQNAD LIVVFQNGRV KEHGTHQQLL
AQKGIYFSMV SVQAGTQNL*

mutated AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ
LLERFYDPLA GTVLLDGQEA KKLNVQWLRA QLGIVSQEPI LFDCSIAENI AYGDNSRVVS
QDEIVSAAKA ANIHPFIETL SHKYETRVGD KGTQLSGGQK QRIAIARALI RQPQILLLDE
ATSALDTESE KVVQEALDKA REGRTCIVIA HRLSTIQNAD LIVVFQNGRV KEHGTHQQLL
AQKGIYFSMV SVQAGTQNL*

speed

0.64 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

disease causing

Model: simple_aae, prob: 0.999999999897263 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM013507)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87035609G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCB4

Ensembl transcript ID

ENST00000265723

Genbank transcript ID

NM_000443

UniProt peptide

P21439

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3502C>T
cDNA.3614C>T
g.74143C>T

AA changes

P1168S Score: 74 explain score(s)

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

1168

frameshift

known variant

Reference ID: rs121918442

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.172	1
	6.172	1
(flanking)	-0.452	0.752

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	74134	wt: 0.6410 / mu: 0.6690 (marginal change - not scored)	wt: CCAACATACATCCTTTCATCGAGACGTTACCCCACGTAAGT mu: CCAACATACATCCTTTCATCGAGACGTTATCCCACGTAAGT	atcg\|AGAC
Acc increased	74152	wt: 0.48 / mu: 0.60	wt: TCGAGACGTTACCCCACGTAAGTTAAAGAGTAGCTGAAATC mu: TCGAGACGTTATCCCACGTAAGTTAAAGAGTAGCTGAAATC	gtaa\|GTTA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1168

mutated

not conserved

1168

Ptroglodytes

all identical

ENSPTRG00000024082

1168

Mmulatta

all identical

ENSMMUG00000010788

1150

Fcatus

no alignment

ENSFCAG00000003276

n/a

Mmusculus

all identical

ENSMUSG00000042476

1158

Ggallus

all identical

ENSGALG00000023271

1136

Trubripes

not conserved

ENSTRUG00000005770

1192

Drerio

all identical

ENSDARG00000010936

1160

Dmelanogaster

all identical

FBgn0010241

1197

Celegans

all identical

C34G6.4

1155

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
995	1286	TOPO_DOM	Cytoplasmic (By similarity).	lost
1034	1279	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3861 / 3861

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

1287 / 1287

position of stopcodon in wt / mu cDNA

3973 / 3973

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

113 / 113

chromosome

strand

-1

last intron/exon boundary

3767

theoretical NMD boundary in CDS

3604

length of CDS

3861

coding sequence (CDS) position

3502

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

3614

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

74143

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

87035609

original gDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACGTAAGTTAAAGAGTA

altered gDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACGTAAGTTAAAGAGTA

original cDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACAAATATGAAACAAGA

altered cDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACAAATATGAAACAAGA

wildtype AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ
LLERFYDPLA GTVFVDFGFQ LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG
DNSRVVSQDE IVSAAKAANI HPFIETLPHK YETRVGDKGT QLSGGQKQRI AIARALIRQP
QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV VFQNGRVKEH
GTHQQLLAQK GIYFSMVSVQ AGTQNL*

mutated AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ
LLERFYDPLA GTVFVDFGFQ LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG
DNSRVVSQDE IVSAAKAANI HPFIETLSHK YETRVGDKGT QLSGGQKQRI AIARALIRQP
QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV VFQNGRVKEH
GTHQQLLAQK GIYFSMVSVQ AGTQNL*

speed

0.83 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999897263 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM013507)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87035609G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCB4

Ensembl transcript ID

ENST00000453593

Genbank transcript ID

N/A

UniProt peptide

P21439

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3340C>T
cDNA.3340C>T
g.74143C>T

AA changes

P1114S Score: 74 explain score(s)

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

1114

frameshift

known variant

Reference ID: rs121918442

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.172	1
	6.172	1
(flanking)	-0.452	0.752

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	74134	wt: 0.6410 / mu: 0.6690 (marginal change - not scored)	wt: CCAACATACATCCTTTCATCGAGACGTTACCCCACGTAAGT mu: CCAACATACATCCTTTCATCGAGACGTTATCCCACGTAAGT	atcg\|AGAC
Acc increased	74152	wt: 0.48 / mu: 0.60	wt: TCGAGACGTTACCCCACGTAAGTTAAAGAGTAGCTGAAATC mu: TCGAGACGTTATCCCACGTAAGTTAAAGAGTAGCTGAAATC	gtaa\|GTTA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1114

mutated

not conserved

1114

Ptroglodytes

all identical

ENSPTRG00000024082

1168

Mmulatta

all identical

ENSMMUG00000010788

1150

Fcatus

no alignment

ENSFCAG00000003276

n/a

Mmusculus

all identical

ENSMUSG00000042476

1158

Ggallus

all identical

ENSGALG00000023271

1136

Trubripes

not conserved

ENSTRUG00000005770

1192

Drerio

all identical

ENSDARG00000010936

1160

Dmelanogaster

all identical

FBgn0010241

1197

Celegans

all identical

C34G6.4

1155

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
995	1286	TOPO_DOM	Cytoplasmic (By similarity).	lost
1034	1279	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3699 / 3699

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

1233 / 1233

position of stopcodon in wt / mu cDNA

3699 / 3699

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

3493

theoretical NMD boundary in CDS

3442

length of CDS

3699

coding sequence (CDS) position

3340

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

3340

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

74143

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

87035609

original gDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACGTAAGTTAAAGAGTA

altered gDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACGTAAGTTAAAGAGTA

original cDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACAAATATGAAACAAGA

altered cDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACAAATATGAAACAAGA

wildtype AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRVF SAIVFGAVAL GHASSFAPDY AKAKLSAAHL
FMLFERQPLI DSYSEEGLKP DKFEGNITFN EVVFNYPTRA NVPVLQGLSL EVKKGQTLAL
VGSSGCGKST VVQLLERFYD PLAGTVLLDG QEAKKLNVQW LRAQLGIVSQ EPILFDCSIA
ENIAYGDNSR VVSQDEIVSA AKAANIHPFI ETLPHKYETR VGDKGTQLSG GQKQRIAIAR
ALIRQPQILL LDEATSALDT ESEKVVQEAL DKAREGRTCI VIAHRLSTIQ NADLIVVFQN
GRVKEHGTHQ QLLAQKGIYF SMVSVQAGTQ NL*

mutated AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRVF SAIVFGAVAL GHASSFAPDY AKAKLSAAHL
FMLFERQPLI DSYSEEGLKP DKFEGNITFN EVVFNYPTRA NVPVLQGLSL EVKKGQTLAL
VGSSGCGKST VVQLLERFYD PLAGTVLLDG QEAKKLNVQW LRAQLGIVSQ EPILFDCSIA
ENIAYGDNSR VVSQDEIVSA AKAANIHPFI ETLSHKYETR VGDKGTQLSG GQKQRIAIAR
ALIRQPQILL LDEATSALDT ESEKVVQEAL DKAREGRTCI VIAHRLSTIQ NADLIVVFQN
GRVKEHGTHQ QLLAQKGIYF SMVSVQAGTQ NL*

speed

0.79 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999897263 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM013507)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87035609G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCB4

Ensembl transcript ID

ENST00000358400

Genbank transcript ID

NM_018850

UniProt peptide

P21439

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3340C>T
cDNA.3416C>T
g.74143C>T

AA changes

P1114S Score: 74 explain score(s)

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

1114

frameshift

known variant

Reference ID: rs121918442

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.172	1
	6.172	1
(flanking)	-0.452	0.752

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	74134	wt: 0.6410 / mu: 0.6690 (marginal change - not scored)	wt: CCAACATACATCCTTTCATCGAGACGTTACCCCACGTAAGT mu: CCAACATACATCCTTTCATCGAGACGTTATCCCACGTAAGT	atcg\|AGAC
Acc increased	74152	wt: 0.48 / mu: 0.60	wt: TCGAGACGTTACCCCACGTAAGTTAAAGAGTAGCTGAAATC mu: TCGAGACGTTATCCCACGTAAGTTAAAGAGTAGCTGAAATC	gtaa\|GTTA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1114

mutated

not conserved

1114

Ptroglodytes

all identical

ENSPTRG00000024082

1168

Mmulatta

all identical

ENSMMUG00000010788

1150

Fcatus

no alignment

ENSFCAG00000003276

n/a

Mmusculus

all identical

ENSMUSG00000042476

1158

Ggallus

all identical

ENSGALG00000023271

1136

Trubripes

not conserved

ENSTRUG00000005770

1192

Drerio

all identical

ENSDARG00000010936

1160

Dmelanogaster

all identical

FBgn0010241

1197

Celegans

all identical

C34G6.4

1155

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
995	1286	TOPO_DOM	Cytoplasmic (By similarity).	lost
1034	1279	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3699 / 3699

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

1233 / 1233

position of stopcodon in wt / mu cDNA

3775 / 3775

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

77 / 77

chromosome

strand

-1

last intron/exon boundary

3569

theoretical NMD boundary in CDS

3442

length of CDS

3699

coding sequence (CDS) position

3340

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

3416

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

74143

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

87035609

original gDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACGTAAGTTAAAGAGTA

altered gDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACGTAAGTTAAAGAGTA

original cDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACAAATATGAAACAAGA

altered cDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACAAATATGAAACAAGA

wildtype AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRVF SAIVFGAVAL GHASSFAPDY AKAKLSAAHL
FMLFERQPLI DSYSEEGLKP DKFEGNITFN EVVFNYPTRA NVPVLQGLSL EVKKGQTLAL
VGSSGCGKST VVQLLERFYD PLAGTVLLDG QEAKKLNVQW LRAQLGIVSQ EPILFDCSIA
ENIAYGDNSR VVSQDEIVSA AKAANIHPFI ETLPHKYETR VGDKGTQLSG GQKQRIAIAR
ALIRQPQILL LDEATSALDT ESEKVVQEAL DKAREGRTCI VIAHRLSTIQ NADLIVVFQN
GRVKEHGTHQ QLLAQKGIYF SMVSVQAGTQ NL*

mutated AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRVF SAIVFGAVAL GHASSFAPDY AKAKLSAAHL
FMLFERQPLI DSYSEEGLKP DKFEGNITFN EVVFNYPTRA NVPVLQGLSL EVKKGQTLAL
VGSSGCGKST VVQLLERFYD PLAGTVLLDG QEAKKLNVQW LRAQLGIVSQ EPILFDCSIA
ENIAYGDNSR VVSQDEIVSA AKAANIHPFI ETLSHKYETR VGDKGTQLSG GQKQRIAIAR
ALIRQPQILL LDEATSALDT ESEKVVQEAL DKAREGRTCI VIAHRLSTIQ NADLIVVFQN
GRVKEHGTHQ QLLAQKGIYF SMVSVQAGTQ NL*

speed

0.40 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999897263 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM013507)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87035609G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCB4

Ensembl transcript ID

ENST00000545634

Genbank transcript ID

N/A

UniProt peptide

P21439

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3481C>T
cDNA.3481C>T
g.74143C>T

AA changes

P1161S Score: 74 explain score(s)

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

1161

frameshift

known variant

Reference ID: rs121918442

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	4	4

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.172	1
	6.172	1
(flanking)	-0.452	0.752

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	74134	wt: 0.6410 / mu: 0.6690 (marginal change - not scored)	wt: CCAACATACATCCTTTCATCGAGACGTTACCCCACGTAAGT mu: CCAACATACATCCTTTCATCGAGACGTTATCCCACGTAAGT	atcg\|AGAC
Acc increased	74152	wt: 0.48 / mu: 0.60	wt: TCGAGACGTTACCCCACGTAAGTTAAAGAGTAGCTGAAATC mu: TCGAGACGTTATCCCACGTAAGTTAAAGAGTAGCTGAAATC	gtaa\|GTTA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1161

mutated

not conserved

1161

Ptroglodytes

all identical

ENSPTRG00000024082

1168

Mmulatta

all identical

ENSMMUG00000010788

1150

Fcatus

no alignment

ENSFCAG00000003276

n/a

Mmusculus

all identical

ENSMUSG00000042476

1158

Ggallus

all identical

ENSGALG00000023271

1136

Trubripes

not conserved

ENSTRUG00000005770

1192

Drerio

all identical

ENSDARG00000010936

1160

Dmelanogaster

all identical

FBgn0010241

1197

Celegans

all identical

C34G6.4

1155

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
995	1286	TOPO_DOM	Cytoplasmic (By similarity).	lost
1034	1279	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3840 / 3840

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

1280 / 1280

position of stopcodon in wt / mu cDNA

3840 / 3840

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

3634

theoretical NMD boundary in CDS

3583

length of CDS

3840

coding sequence (CDS) position

3481

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

3481

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

74143

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

87035609

original gDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACGTAAGTTAAAGAGTA

altered gDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACGTAAGTTAAAGAGTA

original cDNA sequence snippet

ATCCTTTCATCGAGACGTTACCCCACAAATATGAAACAAGA

altered cDNA sequence snippet

ATCCTTTCATCGAGACGTTATCCCACAAATATGAAACAAGA

wildtype AA sequence

mutated AA sequence

MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ
LLERFYDPLA GTVLLDGQEA KKLNVQWLRA QLGIVSQEPI LFDCSIAENI AYGDNSRVVS
QDEIVSAAKA ANIHPFIETL SHKYETRVGD KGTQLSGGQK QRIAIARALI RQPQILLLDE
ATSALDTESE KVVQEALDKA REGRTCIVIA HRLSTIQNAD LIVVFQNGRV KEHGTHQQLL
AQKGIYFSMV SVQAGTQNL*

speed

0.81 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems