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 4.735092 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABCB4	disease_causing_automatic	0.999999999688531	simple_aae			0	Y403H	single base exchange	rs121918443		show file
ABCB4	disease_causing_automatic	0.999999999688531	simple_aae			0	Y403H	single base exchange	rs121918443		show file
ABCB4	disease_causing_automatic	0.999999999688531	simple_aae			0	Y403H	single base exchange	rs121918443		show file
ABCB4	disease_causing_automatic	0.999999999688531	simple_aae			0	Y403H	single base exchange	rs121918443		show file
ABCB4	disease_causing_automatic	0.999999999688531	simple_aae			0	Y403H	single base exchange	rs121918443		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999688531 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM075960)
known disease mutation: rs13695 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87073002A>GN/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.1207T>C
cDNA.1239T>C
g.36750T>C

AA changes

Y403H Score: 83 explain score(s)

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

403

frameshift

known variant

Reference ID: rs121918443
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13695 (pathogenic for Progressive familial intrahepatic cholestasis 3) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM075960)

known disease mutation at this position, please check HGMD for details (HGMD ID CM075960)
known disease mutation at this position, please check HGMD for details (HGMD ID CM075960)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.014	1
	5.014	1
(flanking)	0.135	0.988

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	36750	wt: 0.9121 / mu: 0.9206 (marginal change - not scored)	wt: TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC mu: TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC	tctt\|ACCC
Acc marginally increased	36751	wt: 0.9507 / mu: 0.9534 (marginal change - not scored)	wt: CAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCA mu: CAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCA	ctta\|CCCT
Acc marginally increased	36757	wt: 0.9156 / mu: 0.9176 (marginal change - not scored)	wt: TGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCAAGGTAC mu: TGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCAAGGTAC	cttc\|TCGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

403

mutated

all conserved

403

Ptroglodytes

all identical

ENSPTRG00000024082

403

Mmulatta

all identical

ENSMMUG00000010788

403

Fcatus

all identical

ENSFCAG00000003276

358

Mmusculus

all identical

ENSMUSG00000042476

400

Ggallus

all identical

ENSGALG00000023271

376

KAQ

Trubripes

all identical

ENSTRUG00000005770

435

Drerio

all identical

ENSDARG00000010936

406

Dmelanogaster

all identical

FBgn0010241

440

Celegans

all identical

C34G6.4

408

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
355	711	TOPO_DOM	Cytoplasmic (By similarity).	lost
394	630	DOMAIN	ABC transporter 1.	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

1207

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

1239

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

36750

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

87073002

original gDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered gDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

original cDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered cDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

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 FSHPSRANVK 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*

speed

0.86 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: 0.999999999688531 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM075960)
known disease mutation: rs13695 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87073002A>GN/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.1207T>C
cDNA.1319T>C
g.36750T>C

AA changes

Y403H Score: 83 explain score(s)

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

403

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.014	1
	5.014	1
(flanking)	0.135	0.988

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	36750	wt: 0.9121 / mu: 0.9206 (marginal change - not scored)	wt: TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC mu: TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC	tctt\|ACCC
Acc marginally increased	36751	wt: 0.9507 / mu: 0.9534 (marginal change - not scored)	wt: CAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCA mu: CAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCA	ctta\|CCCT
Acc marginally increased	36757	wt: 0.9156 / mu: 0.9176 (marginal change - not scored)	wt: TGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCAAGGTAC mu: TGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCAAGGTAC	cttc\|TCGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

403

mutated

all conserved

403

Ptroglodytes

all identical

ENSPTRG00000024082

403

Mmulatta

all identical

ENSMMUG00000010788

403

Fcatus

all identical

ENSFCAG00000003276

358

Mmusculus

all identical

ENSMUSG00000042476

400

Ggallus

all identical

ENSGALG00000023271

376

KAQ

Trubripes

all identical

ENSTRUG00000005770

435

Drerio

all identical

ENSDARG00000010936

406

Dmelanogaster

all identical

FBgn0010241

440

Celegans

all identical

C34G6.4

408

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
355	711	TOPO_DOM	Cytoplasmic (By similarity).	lost
394	630	DOMAIN	ABC transporter 1.	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

1207

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

1319

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

36750

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

87073002

original gDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered gDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

original cDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered cDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

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 FSHPSRANVK 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*

speed

0.91 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999688531 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM075960)
known disease mutation: rs13695 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87073002A>GN/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.1207T>C
cDNA.1207T>C
g.36750T>C

AA changes

Y403H Score: 83 explain score(s)

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

403

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.014	1
	5.014	1
(flanking)	0.135	0.988

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	36750	wt: 0.9121 / mu: 0.9206 (marginal change - not scored)	wt: TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC mu: TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC	tctt\|ACCC
Acc marginally increased	36751	wt: 0.9507 / mu: 0.9534 (marginal change - not scored)	wt: CAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCA mu: CAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCA	ctta\|CCCT
Acc marginally increased	36757	wt: 0.9156 / mu: 0.9176 (marginal change - not scored)	wt: TGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCAAGGTAC mu: TGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCAAGGTAC	cttc\|TCGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

403

mutated

all conserved

403

Ptroglodytes

all identical

ENSPTRG00000024082

403

Mmulatta

all identical

ENSMMUG00000010788

403

Fcatus

all identical

ENSFCAG00000003276

358

Mmusculus

all identical

ENSMUSG00000042476

400

Ggallus

all identical

ENSGALG00000023271

376

KAQ

Trubripes

all identical

ENSTRUG00000005770

435

Drerio

all identical

ENSDARG00000010936

406

Dmelanogaster

all identical

FBgn0010241

440

Celegans

all identical

C34G6.4

408

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
355	711	TOPO_DOM	Cytoplasmic (By similarity).	lost
394	630	DOMAIN	ABC transporter 1.	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

1207

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

1207

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

36750

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

87073002

original gDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered gDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

original cDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered cDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

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 FSHPSRANVK 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*

speed

0.85 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999688531 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM075960)
known disease mutation: rs13695 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87073002A>GN/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.1207T>C
cDNA.1283T>C
g.36750T>C

AA changes

Y403H Score: 83 explain score(s)

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

403

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.014	1
	5.014	1
(flanking)	0.135	0.988

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	36750	wt: 0.9121 / mu: 0.9206 (marginal change - not scored)	wt: TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC mu: TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC	tctt\|ACCC
Acc marginally increased	36751	wt: 0.9507 / mu: 0.9534 (marginal change - not scored)	wt: CAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCA mu: CAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCA	ctta\|CCCT
Acc marginally increased	36757	wt: 0.9156 / mu: 0.9176 (marginal change - not scored)	wt: TGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCAAGGTAC mu: TGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCAAGGTAC	cttc\|TCGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

403

mutated

all conserved

403

Ptroglodytes

all identical

ENSPTRG00000024082

403

Mmulatta

all identical

ENSMMUG00000010788

403

Fcatus

all identical

ENSFCAG00000003276

358

Mmusculus

all identical

ENSMUSG00000042476

400

Ggallus

all identical

ENSGALG00000023271

376

KAQ

Trubripes

all identical

ENSTRUG00000005770

435

Drerio

all identical

ENSDARG00000010936

406

Dmelanogaster

all identical

FBgn0010241

440

Celegans

all identical

C34G6.4

408

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
355	711	TOPO_DOM	Cytoplasmic (By similarity).	lost
394	630	DOMAIN	ABC transporter 1.	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

1207

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

1283

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

36750

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

87073002

original gDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered gDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

original cDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered cDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

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 FSHPSRANVK 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*

speed

1.02 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999688531 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM075960)
known disease mutation: rs13695 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:87073002A>GN/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.1207T>C
cDNA.1207T>C
g.36750T>C

AA changes

Y403H Score: 83 explain score(s)

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

403

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.014	1
	5.014	1
(flanking)	0.135	0.988

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	36750	wt: 0.9121 / mu: 0.9206 (marginal change - not scored)	wt: TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC mu: TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC	tctt\|ACCC
Acc marginally increased	36751	wt: 0.9507 / mu: 0.9534 (marginal change - not scored)	wt: CAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCA mu: CAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCA	ctta\|CCCT
Acc marginally increased	36757	wt: 0.9156 / mu: 0.9176 (marginal change - not scored)	wt: TGTTCACTTTTCTTACCCTTCTCGAGCTAACGTCAAGGTAC mu: TGTTCACTTTTCTCACCCTTCTCGAGCTAACGTCAAGGTAC	cttc\|TCGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

403

mutated

all conserved

403

Ptroglodytes

all identical

ENSPTRG00000024082

403

Mmulatta

all identical

ENSMMUG00000010788

403

Fcatus

all identical

ENSFCAG00000003276

358

Mmusculus

all identical

ENSMUSG00000042476

400

Ggallus

all identical

ENSGALG00000023271

376

KAQ

Trubripes

all identical

ENSTRUG00000005770

435

Drerio

all identical

ENSDARG00000010936

406

Dmelanogaster

all identical

FBgn0010241

440

Celegans

all identical

C34G6.4

408

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
355	711	TOPO_DOM	Cytoplasmic (By similarity).	lost
394	630	DOMAIN	ABC transporter 1.	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

1207

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

1207

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

36750

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

87073002

original gDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered gDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

original cDNA sequence snippet

TCAATGATGTTCACTTTTCTTACCCTTCTCGAGCTAACGTC

altered cDNA sequence snippet

TCAATGATGTTCACTTTTCTCACCCTTCTCGAGCTAACGTC

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 FSHPSRANVK 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*

speed

0.84 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