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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000373450
Querying Taster for transcript #2: ENST00000344644
Querying Taster for transcript #3: ENST00000373445
Querying Taster for transcript #4: ENST00000354728
Querying Taster for transcript #5: ENST00000373426
Querying Taster for transcript #6: ENST00000373424
Querying Taster for transcript #7: ENST00000305139
MT speed 0 s - this script 7.075876 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
UGT1A6	polymorphism_automatic	6.09512440519211e-14	simple_aae				T181A	single base exchange	rs2070959		show file
UGT1A10	polymorphism_automatic	1.56225772984797e-07	without_aae					single base exchange	rs2070959		show file
UGT1A8	polymorphism_automatic	1.56225772984797e-07	without_aae					single base exchange	rs2070959		show file
UGT1A10	polymorphism_automatic	1.56225772984797e-07	without_aae					single base exchange	rs2070959		show file
UGT1A6	polymorphism_automatic	1.56225772984797e-07	without_aae					single base exchange	rs2070959		show file
UGT1A7	polymorphism_automatic	1.56225772984797e-07	without_aae					single base exchange	rs2070959		show file
UGT1A9	polymorphism_automatic	1.56225772984797e-07	without_aae					single base exchange	rs2070959		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999939 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM057770)
known disease mutation at this position (HGMD CP995124)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:234602191A>GN/A show variant in all transcripts IGV

HGNC symbol

UGT1A6

Ensembl transcript ID

ENST00000305139

Genbank transcript ID

NM_001072

UniProt peptide

P19224

alteration type

single base exchange

alteration region

CDS

DNA changes

c.541A>G
cDNA.680A>G
g.1939A>G

AA changes

T181A Score: 58 explain score(s)

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

181

frameshift

known variant

Reference ID: rs2070959

database	homozygous (G/G)	heterozygous	allele carriers
1000G	204	982	1186
ExAC	6438	19891	26329

known disease mutation at this position, please check HGMD for details (HGMD ID CP995124)

known disease mutation at this position, please check HGMD for details (HGMD ID CP995124)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057770)

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.451	0
	-1.596	0
(flanking)	-1.074	0

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	1933	wt: 0.5537 / mu: 0.5705 (marginal change - not scored)	wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC	ctgg\|AGCA
Acc marginally increased	1932	wt: 0.7669 / mu: 0.8018 (marginal change - not scored)	wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG	cctg\|GAGC
Acc marginally increased	1929	wt: 0.4062 / mu: 0.4329 (marginal change - not scored)	wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG	ttcc\|CTGG
Acc marginally increased	1931	wt: 0.9079 / mu: 0.9324 (marginal change - not scored)	wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA	ccct\|GGAG

distance from splice site

321

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

181

mutated

not conserved

181

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000090145

181

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

position of stopcodon in wt / mu cDNA

1738 / 1738

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

140 / 140

chromosome

strand

last intron/exon boundary

1441

theoretical NMD boundary in CDS

1251

length of CDS

1599

coding sequence (CDS) position

541

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

680

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

1939

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

234602191

original gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

original cDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered cDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

wildtype AA sequence

MACLLRSFQR ISAGVFFLAL WGMVVGDKLL VVPQDGSHWL SMKDIVEVLS DRGHEIVVVV
PEVNLLLKES KYYTRKIYPV PYDQEELKNR YQSFGNNHFA ERSFLTAPQT EYRNNMIVIG
LYFINCQSLL QDRDTLNFFK ESKFDALFTD PALPCGVILA EYLGLPSVYL FRGFPCSLEH
TFSRSPDPVS YIPRCYTKFS DHMTFSQRVA NFLVNLLEPY LFYCLFSKYE ELASAVLKRD
VDIITLYQKV SVWLLRYDFV LEYPRPVMPN MVFIGGINCK KRKDLSQEFE AYINASGEHG
IVVFSLGSMV SEIPEKKAMA IADALGKIPQ TVLWRYTGTR PSNLANNTIL VKWLPQNDLL
GHPMTRAFIT HAGSHGVYES ICNGVPMVMM PLFGDQMDNA KRMETKGAGV TLNVLEMTSE
DLENALKAVI NDKSYKENIM RLSSLHKDRP VEPLDLAVFW VEFVMRHKGA PHLRPAAHDL
TWYQYHSLDV IGFLLAVVLT VAFITFKCCA YGYRKCLGKK GRVKKAHKSK TH*

mutated AA sequence

MACLLRSFQR ISAGVFFLAL WGMVVGDKLL VVPQDGSHWL SMKDIVEVLS DRGHEIVVVV
PEVNLLLKES KYYTRKIYPV PYDQEELKNR YQSFGNNHFA ERSFLTAPQT EYRNNMIVIG
LYFINCQSLL QDRDTLNFFK ESKFDALFTD PALPCGVILA EYLGLPSVYL FRGFPCSLEH
AFSRSPDPVS YIPRCYTKFS DHMTFSQRVA NFLVNLLEPY LFYCLFSKYE ELASAVLKRD
VDIITLYQKV SVWLLRYDFV LEYPRPVMPN MVFIGGINCK KRKDLSQEFE AYINASGEHG
IVVFSLGSMV SEIPEKKAMA IADALGKIPQ TVLWRYTGTR PSNLANNTIL VKWLPQNDLL
GHPMTRAFIT HAGSHGVYES ICNGVPMVMM PLFGDQMDNA KRMETKGAGV TLNVLEMTSE
DLENALKAVI NDKSYKENIM RLSSLHKDRP VEPLDLAVFW VEFVMRHKGA PHLRPAAHDL
TWYQYHSLDV IGFLLAVVLT VAFITFKCCA YGYRKCLGKK GRVKKAHKSK TH*

speed

1.09 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: without_aae, prob: 0.999999843774227 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM057770)
known disease mutation at this position (HGMD CP995124)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:234602191A>GN/A show variant in all transcripts IGV

HGNC symbol

UGT1A10

Ensembl transcript ID

ENST00000373445

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.57092A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2070959

database	homozygous (G/G)	heterozygous	allele carriers
1000G	204	982	1186
ExAC	6438	19891	26329

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.451	0
	-1.596	0
(flanking)	-1.074	0

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	57084	wt: 0.9079 / mu: 0.9324 (marginal change - not scored)	wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA	ccct\|GGAG
Acc marginally increased	57086	wt: 0.5537 / mu: 0.5705 (marginal change - not scored)	wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC	ctgg\|AGCA
Acc marginally increased	57082	wt: 0.4062 / mu: 0.4329 (marginal change - not scored)	wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG	ttcc\|CTGG
Acc marginally increased	57085	wt: 0.7669 / mu: 0.8018 (marginal change - not scored)	wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG	cctg\|GAGC

distance from splice site

56168

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

22 / 22

chromosome

strand

last intron/exon boundary

1317

theoretical NMD boundary in CDS

1245

length of CDS

1326

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)

57092

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

234602191

original gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MARAGWTSPV PLCVCLLLTC GFAEAGKLLV VPMDGSHWFT MQSVVEKLIL RGHEVVVVMP
EVSWQLERSL NCTVKTYSTS YTLEDQNREF MVFAHAQWKA QAQSIFSLLM SSSSGFLDLF
FSHCRSLFND RKLVEYLKES SFDAVFLDPF DTCGLIVAKY FSLPSVVFTR GIFCHHLEEG
AQCPAPLSYV PNDLLGFSDA MTFKERVWNH IVHLEDHLFC QYLFRNALEI ASEILQTPVT
AYDLYSHTSI WLLRTDFVLD YPKPVMPNMI FIGGINCHQG KPLPMEFEAY INASGEHGIV
VFSLGSMVSE IPEKKAMAIA DALGKIPQTV LWRYTGTRPS NLANNTILVK WLPQNDLLGH
PMTRAFITHA GSHGVYESIC NGVPMVMMPL FGDQMDNAKR METKGAGVTL NVLEMTSEDL
ENALKAVIND KRKKQQSGRQ M*

mutated AA sequence

N/A

speed

0.93 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999843774227 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM057770)
known disease mutation at this position (HGMD CP995124)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:234602191A>GN/A show variant in all transcripts IGV

HGNC symbol

UGT1A8

Ensembl transcript ID

ENST00000373450

Genbank transcript ID

NM_019076

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.75901A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2070959

database	homozygous (G/G)	heterozygous	allele carriers
1000G	204	982	1186
ExAC	6438	19891	26329

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.451	0
	-1.596	0
(flanking)	-1.074	0

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	75891	wt: 0.4062 / mu: 0.4329 (marginal change - not scored)	wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG	ttcc\|CTGG
Acc marginally increased	75895	wt: 0.5537 / mu: 0.5705 (marginal change - not scored)	wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC	ctgg\|AGCA
Acc marginally increased	75894	wt: 0.7669 / mu: 0.8018 (marginal change - not scored)	wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG	cctg\|GAGC
Acc marginally increased	75893	wt: 0.9079 / mu: 0.9324 (marginal change - not scored)	wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA	ccct\|GGAG

distance from splice site

73489

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

64 / 64

chromosome

strand

last intron/exon boundary

1359

theoretical NMD boundary in CDS

1245

length of CDS

1593

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)

75901

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

234602191

original gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MARTGWTSPI PLCVSLLLTC GFAEAGKLLV VPMDGSHWFT MQSVVEKLIL RGHEVVVVMP
EVSWQLGKSL NCTVKTYSTS YTLEDLDREF MDFADAQWKA QVRSLFSLFL SSSNGFFNLF
FSHCRSLFND RKLVEYLKES SFDAVFLDPF DACGLIVAKY FSLPSVVFAR GIACHYLEEG
AQCPAPLSYV PRILLGFSDA MTFKERVRNH IMHLEEHLFC QYFSKNALEI ASEILQTPVT
AYDLYSHTSI WLLRTDFVLD YPKPVMPNMI FIGGINCHQG KPLPMEFEAY INASGEHGIV
VFSLGSMVSE IPEKKAMAIA DALGKIPQTV LWRYTGTRPS NLANNTILVK WLPQNDLLGH
PMTRAFITHA GSHGVYESIC NGVPMVMMPL FGDQMDNAKR METKGAGVTL NVLEMTSEDL
ENALKAVIND KSYKENIMRL SSLHKDRPVE PLDLAVFWVE FVMRHKGAPH LRPAAHDLTW
YQYHSLDVIG FLLAVVLTVA FITFKCCAYG YRKCLGKKGR VKKAHKSKTH *

mutated AA sequence

N/A

speed

0.71 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999843774227 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM057770)
known disease mutation at this position (HGMD CP995124)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:234602191A>GN/A show variant in all transcripts IGV

HGNC symbol

UGT1A10

Ensembl transcript ID

ENST00000344644

Genbank transcript ID

NM_019075

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.57092A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2070959

database	homozygous (G/G)	heterozygous	allele carriers
1000G	204	982	1186
ExAC	6438	19891	26329

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.451	0
	-1.596	0
(flanking)	-1.074	0

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	57084	wt: 0.9079 / mu: 0.9324 (marginal change - not scored)	wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA	ccct\|GGAG
Acc marginally increased	57086	wt: 0.5537 / mu: 0.5705 (marginal change - not scored)	wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC	ctgg\|AGCA
Acc marginally increased	57082	wt: 0.4062 / mu: 0.4329 (marginal change - not scored)	wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG	ttcc\|CTGG
Acc marginally increased	57085	wt: 0.7669 / mu: 0.8018 (marginal change - not scored)	wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG	cctg\|GAGC

distance from splice site

56168

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

70 / 70

chromosome

strand

last intron/exon boundary

1365

theoretical NMD boundary in CDS

1245

length of CDS

1593

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)

57092

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

234602191

original gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.94 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999843774227 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM057770)
known disease mutation at this position (HGMD CP995124)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:234602191A>GN/A show variant in all transcripts IGV

HGNC symbol

UGT1A6

Ensembl transcript ID

ENST00000373424

Genbank transcript ID

NM_205862

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.1939A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2070959

database	homozygous (G/G)	heterozygous	allele carriers
1000G	204	982	1186
ExAC	6438	19891	26329

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.451	0
	-1.596	0
(flanking)	-1.074	0

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	1933	wt: 0.5537 / mu: 0.5705 (marginal change - not scored)	wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC	ctgg\|AGCA
Acc marginally increased	1932	wt: 0.7669 / mu: 0.8018 (marginal change - not scored)	wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG	cctg\|GAGC
Acc marginally increased	1929	wt: 0.4062 / mu: 0.4329 (marginal change - not scored)	wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG	ttcc\|CTGG
Acc marginally increased	1931	wt: 0.9079 / mu: 0.9324 (marginal change - not scored)	wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA	ccct\|GGAG

distance from splice site

254

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

222 / 222

chromosome

strand

last intron/exon boundary

722

theoretical NMD boundary in CDS

450

length of CDS

798

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)

1939

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

234602191

original gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MPNMVFIGGI NCKKRKDLSQ EFEAYINASG EHGIVVFSLG SMVSEIPEKK AMAIADALGK
IPQTVLWRYT GTRPSNLANN TILVKWLPQN DLLGHPMTRA FITHAGSHGV YESICNGVPM
VMMPLFGDQM DNAKRMETKG AGVTLNVLEM TSEDLENALK AVINDKSYKE NIMRLSSLHK
DRPVEPLDLA VFWVEFVMRH KGAPHLRPAA HDLTWYQYHS LDVIGFLLAV VLTVAFITFK
CCAYGYRKCL GKKGRVKKAH KSKTH*

mutated AA sequence

N/A

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999843774227 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM057770)
known disease mutation at this position (HGMD CP995124)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:234602191A>GN/A show variant in all transcripts IGV

HGNC symbol

UGT1A7

Ensembl transcript ID

ENST00000373426

Genbank transcript ID

NM_019077

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.11608A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2070959

database	homozygous (G/G)	heterozygous	allele carriers
1000G	204	982	1186
ExAC	6438	19891	26329

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.451	0
	-1.596	0
(flanking)	-1.074	0

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	11601	wt: 0.7669 / mu: 0.8018 (marginal change - not scored)	wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG	cctg\|GAGC
Acc marginally increased	11602	wt: 0.5537 / mu: 0.5705 (marginal change - not scored)	wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC	ctgg\|AGCA
Acc marginally increased	11598	wt: 0.4062 / mu: 0.4329 (marginal change - not scored)	wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG	ttcc\|CTGG
Acc marginally increased	11600	wt: 0.9079 / mu: 0.9324 (marginal change - not scored)	wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA	ccct\|GGAG

distance from splice site

10753

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

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

last intron/exon boundary

1296

theoretical NMD boundary in CDS

1245

length of CDS

1593

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)

11608

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

234602191

original gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MARAGWTGLL PLYVCLLLTC GFAKAGKLLV VPMDGSHWFT MQSVVEKLIL RGHEVVVVMP
EVSWQLGRSL NCTVKTYSTS YTLEDQDREF MVFADARWTA PLRSAFSLLT SSSNGIFDLF
FSNCRSLFND RKLVEYLKES CFDAVFLDPF DACGLIVAKY FSLPSVVFAR GIFCHYLEEG
AQCPAPLSYV PRLLLGFSDA MTFKERVWNH IMHLEEHLFC PYFFKNVLEI ASEILQTPVT
AYDLYSHTSI WLLRTDFVLE YPKPVMPNMI FIGGINCHQG KPVPMEFEAY INASGEHGIV
VFSLGSMVSE IPEKKAMAIA DALGKIPQTV LWRYTGTRPS NLANNTILVK WLPQNDLLGH
PMTRAFITHA GSHGVYESIC NGVPMVMMPL FGDQMDNAKR METKGAGVTL NVLEMTSEDL
ENALKAVIND KSYKENIMRL SSLHKDRPVE PLDLAVFWVE FVMRHKGAPH LRPAAHDLTW
YQYHSLDVIG FLLAVVLTVA FITFKCCAYG YRKCLGKKGR VKKAHKSKTH *

mutated AA sequence

N/A

speed

0.67 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999843774227 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM057770)
known disease mutation at this position (HGMD CP995124)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:234602191A>GN/A show variant in all transcripts IGV

HGNC symbol

UGT1A9

Ensembl transcript ID

ENST00000354728

Genbank transcript ID

NM_021027

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.21693A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2070959

database	homozygous (G/G)	heterozygous	allele carriers
1000G	204	982	1186
ExAC	6438	19891	26329

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.451	0
	-1.596	0
(flanking)	-1.074	0

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	21683	wt: 0.4062 / mu: 0.4329 (marginal change - not scored)	wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG	ttcc\|CTGG
Acc marginally increased	21685	wt: 0.9079 / mu: 0.9324 (marginal change - not scored)	wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA	ccct\|GGAG
Acc marginally increased	21687	wt: 0.5537 / mu: 0.5705 (marginal change - not scored)	wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC	ctgg\|AGCA
Acc marginally increased	21686	wt: 0.7669 / mu: 0.8018 (marginal change - not scored)	wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG	cctg\|GAGC

distance from splice site

20756

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

83 / 83

chromosome

strand

last intron/exon boundary

1378

theoretical NMD boundary in CDS

1245

length of CDS

1593

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)

21693

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

234602191

original gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC

altered gDNA sequence snippet

TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MACTGWTSPL PLCVCLLLTC GFAEAGKLLV VPMDGSHWFT MRSVVEKLIL RGHEVVVVMP
EVSWQLGRSL NCTVKTYSTS YTLEDLDREF KAFAHAQWKA QVRSIYSLLM GSYNDIFDLF
FSNCRSLFKD KKLVEYLKES SFDAVFLDPF DNCGLIVAKY FSLPSVVFAR GILCHYLEEG
AQCPAPLSYV PRILLGFSDA MTFKERVRNH IMHLEEHLLC HRFFKNALEI ASEILQTPVT
EYDLYSHTSI WLLRTDFVLD YPKPVMPNMI FIGGINCHQG KPLPMEFEAY INASGEHGIV
VFSLGSMVSE IPEKKAMAIA DALGKIPQTV LWRYTGTRPS NLANNTILVK WLPQNDLLGH
PMTRAFITHA GSHGVYESIC NGVPMVMMPL FGDQMDNAKR METKGAGVTL NVLEMTSEDL
ENALKAVIND KSYKENIMRL SSLHKDRPVE PLDLAVFWVE FVMRHKGAPH LRPAAHDLTW
YQYHSLDVIG FLLAVVLTVA FITFKCCAYG YRKCLGKKGR VKKAHKSKTH *

mutated AA sequence

N/A

speed

0.89 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

mutation t@sting

Prediction

polymorphism

Problems