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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000449107
Querying Taster for transcript #2: ENST00000303498
Querying Taster for transcript #3: ENST00000437172
Querying Taster for transcript #4: ENST00000383778
MT speed 0 s - this script 5.142867 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BTD	disease_causing_automatic	0.999999998319841	simple_aae		affected	0	R81C	single base exchange	rs104893687		show file
BTD	disease_causing_automatic	0.999999998319841	simple_aae		affected	0	R79C	single base exchange	rs104893687		show file
BTD	disease_causing_automatic	0.999999998319841	simple_aae		affected	0	R81C	single base exchange	rs104893687		show file
BTD	disease_causing_automatic	0.999999998319841	simple_aae		affected	0	R59C	single base exchange	rs104893687		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999998319841 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM000661)
known disease mutation: rs1905 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15677121C>TN/A show variant in all transcripts IGV

HGNC symbol

BTD

Ensembl transcript ID

ENST00000449107

Genbank transcript ID

N/A

UniProt peptide

P43251

alteration type

single base exchange

alteration region

CDS

DNA changes

c.241C>T
cDNA.329C>T
g.34274C>T

AA changes

R81C Score: 180 explain score(s)

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

frameshift

known variant

Reference ID: rs104893687
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs1905 (pathogenic for Biotinidase deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000661)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000661)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000661)

regulatory features

H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2AK5ac, Histone, Histone 2A Lysine 5 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.012	0.096
	3.574	0.948
(flanking)	3.557	0.948

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	34272	wt: 0.47 / mu: 0.75	wt: GAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGC mu: GAACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGC	tcag\|CCGC
Acc increased	34278	wt: 0.30 / mu: 0.49	wt: TCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGA mu: TCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTCATGA	gcca\|AGAG
Acc marginally increased	34265	wt: 0.5144 / mu: 0.5376 (marginal change - not scored)	wt: TGAGTCTGAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCC mu: TGAGTCTGAACCCTCTGGCTCTCATCAGCTGCCAAGAGGCC	gctc\|TCAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000014668

Mmulatta

no alignment

ENSMMUG00000020762

n/a

Fcatus

all identical

ENSFCAG00000011306

Mmusculus

all identical

ENSMUSG00000021900

Ggallus

all identical

ENSGALG00000011216

Trubripes

all identical

ENSTRUG00000014869

Drerio

all identical

ENSDARG00000006926

Dmelanogaster

not conserved

FBgn0040069

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
112	112	ACT_SITE	Proton acceptor (Potential).	might get lost (downstream of altered splice site)
119	119	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
150	150	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
203	203	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
212	212	ACT_SITE	Potential.	might get lost (downstream of altered splice site)
245	245	ACT_SITE	Nucleophile (By similarity).	might get lost (downstream of altered splice site)
349	349	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
402	402	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
489	489	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1638 / 1638

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

546 / 546

position of stopcodon in wt / mu cDNA

1726 / 1726

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

89 / 89

chromosome

strand

last intron/exon boundary

554

theoretical NMD boundary in CDS

415

length of CDS

1638

coding sequence (CDS) position

241

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

329

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

34274

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

15677121

original gDNA sequence snippet

ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTC

altered gDNA sequence snippet

ACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTC

original cDNA sequence snippet

ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTC

altered cDNA sequence snippet

ACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTC

wildtype AA sequence

MPEGGGTSRR LLPMQSRFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*

mutated AA sequence

MPEGGGTSRR LLPMQSRFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS CQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*

speed

0.44 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: 0.999999998319841 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM000661)
known disease mutation: rs1905 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15677121C>TN/A show variant in all transcripts IGV

HGNC symbol

BTD

Ensembl transcript ID

ENST00000303498

Genbank transcript ID

NM_000060

UniProt peptide

P43251

alteration type

single base exchange

alteration region

CDS

DNA changes

c.235C>T
cDNA.344C>T
g.34274C>T

AA changes

R79C Score: 180 explain score(s)

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

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.012	0.096
	3.574	0.948
(flanking)	3.557	0.948

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	34272	wt: 0.47 / mu: 0.75	wt: GAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGC mu: GAACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGC	tcag\|CCGC
Acc increased	34278	wt: 0.30 / mu: 0.49	wt: TCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGA mu: TCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTCATGA	gcca\|AGAG
Acc marginally increased	34265	wt: 0.5144 / mu: 0.5376 (marginal change - not scored)	wt: TGAGTCTGAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCC mu: TGAGTCTGAACCCTCTGGCTCTCATCAGCTGCCAAGAGGCC	gctc\|TCAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000014668

Mmulatta

no alignment

ENSMMUG00000020762

n/a

Fcatus

all identical

ENSFCAG00000011306

Mmusculus

all identical

ENSMUSG00000021900

Ggallus

all identical

ENSGALG00000011216

Trubripes

all identical

ENSTRUG00000014869

Drerio

all identical

ENSDARG00000006926

Dmelanogaster

not conserved

FBgn0040069

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
112	112	ACT_SITE	Proton acceptor (Potential).	might get lost (downstream of altered splice site)
119	119	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
150	150	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
203	203	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
212	212	ACT_SITE	Potential.	might get lost (downstream of altered splice site)
245	245	ACT_SITE	Nucleophile (By similarity).	might get lost (downstream of altered splice site)
349	349	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
402	402	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
489	489	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1632 / 1632

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

544 / 544

position of stopcodon in wt / mu cDNA

1741 / 1741

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

110 / 110

chromosome

strand

last intron/exon boundary

569

theoretical NMD boundary in CDS

409

length of CDS

1632

coding sequence (CDS) position

235

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

344

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

34274

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

15677121

original gDNA sequence snippet

ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTC

altered gDNA sequence snippet

ACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTC

original cDNA sequence snippet

ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTC

altered cDNA sequence snippet

ACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTC

wildtype AA sequence

MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA
AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY
ERD*

mutated AA sequence

MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA
AVYEHPSILS LNPLALISCQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY
ERD*

speed

0.91 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999998319841 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM000661)
known disease mutation: rs1905 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15677121C>TN/A show variant in all transcripts IGV

HGNC symbol

BTD

Ensembl transcript ID

ENST00000437172

Genbank transcript ID

N/A

UniProt peptide

P43251

alteration type

single base exchange

alteration region

CDS

DNA changes

c.241C>T
cDNA.473C>T
g.34274C>T

AA changes

R81C Score: 180 explain score(s)

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

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.012	0.096
	3.574	0.948
(flanking)	3.557	0.948

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	34272	wt: 0.47 / mu: 0.75	wt: GAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGC mu: GAACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGC	tcag\|CCGC
Acc increased	34278	wt: 0.30 / mu: 0.49	wt: TCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGA mu: TCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTCATGA	gcca\|AGAG
Acc marginally increased	34265	wt: 0.5144 / mu: 0.5376 (marginal change - not scored)	wt: TGAGTCTGAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCC mu: TGAGTCTGAACCCTCTGGCTCTCATCAGCTGCCAAGAGGCC	gctc\|TCAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000014668

Mmulatta

no alignment

ENSMMUG00000020762

n/a

Fcatus

all identical

ENSFCAG00000011306

Mmusculus

all identical

ENSMUSG00000021900

Ggallus

all identical

ENSGALG00000011216

Trubripes

all identical

ENSTRUG00000014869

Drerio

all identical

ENSDARG00000006926

Dmelanogaster

not conserved

FBgn0040069

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
112	112	ACT_SITE	Proton acceptor (Potential).	might get lost (downstream of altered splice site)
119	119	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
150	150	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
203	203	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
212	212	ACT_SITE	Potential.	might get lost (downstream of altered splice site)
245	245	ACT_SITE	Nucleophile (By similarity).	might get lost (downstream of altered splice site)
349	349	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
402	402	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
489	489	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1638 / 1638

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

546 / 546

position of stopcodon in wt / mu cDNA

1870 / 1870

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

233 / 233

chromosome

strand

last intron/exon boundary

698

theoretical NMD boundary in CDS

415

length of CDS

1638

coding sequence (CDS) position

241

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

473

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

34274

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

15677121

original gDNA sequence snippet

ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTC

altered gDNA sequence snippet

ACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTC

original cDNA sequence snippet

ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTC

altered cDNA sequence snippet

ACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTC

wildtype AA sequence

MARKETQLII KMNHLARFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*

mutated AA sequence

MARKETQLII KMNHLARFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS CQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*

speed

1.26 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999998319841 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM000661)
known disease mutation: rs1905 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15677121C>TN/A show variant in all transcripts IGV

HGNC symbol

BTD

Ensembl transcript ID

ENST00000383778

Genbank transcript ID

N/A

UniProt peptide

P43251

alteration type

single base exchange

alteration region

CDS

DNA changes

c.175C>T
cDNA.533C>T
g.34274C>T

AA changes

R59C Score: 180 explain score(s)

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

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.012	0.096
	3.574	0.948
(flanking)	3.557	0.948

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	34272	wt: 0.47 / mu: 0.75	wt: GAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGC mu: GAACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGC	tcag\|CCGC
Acc increased	34278	wt: 0.30 / mu: 0.49	wt: TCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGA mu: TCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTCATGA	gcca\|AGAG
Acc marginally increased	34265	wt: 0.5144 / mu: 0.5376 (marginal change - not scored)	wt: TGAGTCTGAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCC mu: TGAGTCTGAACCCTCTGGCTCTCATCAGCTGCCAAGAGGCC	gctc\|TCAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000014668

Mmulatta

no alignment

ENSMMUG00000020762

n/a

Fcatus

all identical

ENSFCAG00000011306

Mmusculus

all identical

ENSMUSG00000021900

Ggallus

all identical

ENSGALG00000011216

Trubripes

all identical

ENSTRUG00000014869

Drerio

all identical

ENSDARG00000006926

Dmelanogaster

not conserved

FBgn0040069

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
112	112	ACT_SITE	Proton acceptor (Potential).	might get lost (downstream of altered splice site)
119	119	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
150	150	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
203	203	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
212	212	ACT_SITE	Potential.	might get lost (downstream of altered splice site)
245	245	ACT_SITE	Nucleophile (By similarity).	might get lost (downstream of altered splice site)
349	349	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
402	402	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
489	489	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1572 / 1572

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

524 / 524

position of stopcodon in wt / mu cDNA

1930 / 1930

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

359 / 359

chromosome

strand

last intron/exon boundary

758

theoretical NMD boundary in CDS

349

length of CDS

1572

coding sequence (CDS) position

175

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

533

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

34274

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

15677121

original gDNA sequence snippet

ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTC

altered gDNA sequence snippet

ACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTC

original cDNA sequence snippet

ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTC

altered cDNA sequence snippet

ACCCTCTGGCTCTCATCAGCTGCCAAGAGGCCTTGGAGCTC

wildtype AA sequence

MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA AVYEHPSILS LNPLALISRQ
EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW
NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF
SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF FDPAIRVLRD
YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN VHHPVLGMTG SGIHTPLESF
WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK FLKILSGDPY CEKDAQEVHC
DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL
GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD*

mutated AA sequence

MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA AVYEHPSILS LNPLALISCQ
EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW
NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF
SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF FDPAIRVLRD
YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN VHHPVLGMTG SGIHTPLESF
WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK FLKILSGDPY CEKDAQEVHC
DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL
GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD*

speed

0.92 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

Problems