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 4.910389 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BTD	disease_causing_automatic	0.957433947308538	simple_aae		affected	0	D254G	single base exchange	rs28934601		show file
BTD	disease_causing_automatic	0.957433947308538	simple_aae		affected	0	D252G	single base exchange	rs28934601		show file
BTD	disease_causing_automatic	0.957433947308538	simple_aae		affected	0	D254G	single base exchange	rs28934601		show file
BTD	disease_causing_automatic	0.957433947308538	simple_aae		affected	0	D232G	single base exchange	rs28934601		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.957433947308538 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993555)
known disease mutation: rs1901 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15686118A>GN/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.761A>G
cDNA.849A>G
g.43271A>G

AA changes

D254G Score: 94 explain score(s)

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

254

frameshift

known variant

Reference ID: rs28934601

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known disease mutation: rs1901 (pathogenic for Biotinidase deficiency|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993555)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993555)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993555)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.928
	1.322	0.935
(flanking)	0.04	0.928

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	43277	wt: 0.6540 / mu: 0.6668 (marginal change - not scored)	wt: TATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACT mu: TATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACT	ctgc\|CATC
Acc marginally increased	43279	wt: 0.7415 / mu: 0.7826 (marginal change - not scored)	wt: TATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTAC mu: TATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTAC	gcca\|TCAG
Acc increased	43270	wt: 0.42 / mu: 0.74	wt: GCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTC mu: GCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTC	tttg\|ACCC
Acc marginally increased	43269	wt: 0.7711 / mu: 0.8178 (marginal change - not scored)	wt: TGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCT mu: TGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCT	cttt\|GACC
Acc marginally increased	43266	wt: 0.7146 / mu: 0.7205 (marginal change - not scored)	wt: ACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGT mu: ACATGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGT	gttc\|TTTG
Acc marginally increased	43282	wt: 0.9233 / mu: 0.9318 (marginal change - not scored)	wt: TGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAG mu: TGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTACAAG	atca\|GAGT
Acc marginally increased	43276	wt: 0.4155 / mu: 0.4335 (marginal change - not scored)	wt: ATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGAC mu: ATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGAC	cctg\|CCAT

distance from splice site

296

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

254

mutated

not conserved

254

Ptroglodytes

all identical

ENSPTRG00000014668

252

Mmulatta

all identical

ENSMMUG00000020762

148

Fcatus

all identical

ENSFCAG00000011306

237

Mmusculus

all identical

ENSMUSG00000021900

238

Ggallus

all conserved

ENSGALG00000011216

222

Trubripes

all conserved

ENSTRUG00000014869

221

Drerio

all identical

ENSDARG00000006926

228

Dmelanogaster

not conserved

FBgn0040069

211

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000008991

225

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
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

761

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

849

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

43271

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

15686118

original gDNA sequence snippet

CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA

altered gDNA sequence snippet

CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA

original cDNA sequence snippet

CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA

altered cDNA sequence snippet

CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA

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 RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFGPAIRVL 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

0.93 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: 0.957433947308538 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993555)
known disease mutation: rs1901 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15686118A>GN/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.755A>G
cDNA.864A>G
g.43271A>G

AA changes

D252G Score: 94 explain score(s)

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

252

frameshift

known variant

Reference ID: rs28934601

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.928
	1.322	0.935
(flanking)	0.04	0.928

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	43277	wt: 0.6540 / mu: 0.6668 (marginal change - not scored)	wt: TATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACT mu: TATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACT	ctgc\|CATC
Acc marginally increased	43279	wt: 0.7415 / mu: 0.7826 (marginal change - not scored)	wt: TATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTAC mu: TATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTAC	gcca\|TCAG
Acc increased	43270	wt: 0.42 / mu: 0.74	wt: GCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTC mu: GCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTC	tttg\|ACCC
Acc marginally increased	43269	wt: 0.7711 / mu: 0.8178 (marginal change - not scored)	wt: TGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCT mu: TGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCT	cttt\|GACC
Acc marginally increased	43266	wt: 0.7146 / mu: 0.7205 (marginal change - not scored)	wt: ACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGT mu: ACATGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGT	gttc\|TTTG
Acc marginally increased	43282	wt: 0.9233 / mu: 0.9318 (marginal change - not scored)	wt: TGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAG mu: TGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTACAAG	atca\|GAGT
Acc marginally increased	43276	wt: 0.4155 / mu: 0.4335 (marginal change - not scored)	wt: ATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGAC mu: ATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGAC	cctg\|CCAT

distance from splice site

296

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

252

mutated

not conserved

252

Ptroglodytes

all identical

ENSPTRG00000014668

252

Mmulatta

all identical

ENSMMUG00000020762

148

Fcatus

all identical

ENSFCAG00000011306

237

Mmusculus

all identical

ENSMUSG00000021900

238

Ggallus

all conserved

ENSGALG00000011216

222

Trubripes

all conserved

ENSTRUG00000014869

221

Drerio

all identical

ENSDARG00000006926

228

Dmelanogaster

not conserved

FBgn0040069

211

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000008991

225

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
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

755

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

864

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

43271

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

15686118

original gDNA sequence snippet

CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA

altered gDNA sequence snippet

CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA

original cDNA sequence snippet

CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA

altered cDNA sequence snippet

CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA

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 LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
GIFTCFDILF FGPAIRVLRD 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

0.95 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.957433947308538 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993555)
known disease mutation: rs1901 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15686118A>GN/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.761A>G
cDNA.993A>G
g.43271A>G

AA changes

D254G Score: 94 explain score(s)

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

254

frameshift

known variant

Reference ID: rs28934601

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.928
	1.322	0.935
(flanking)	0.04	0.928

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	43277	wt: 0.6540 / mu: 0.6668 (marginal change - not scored)	wt: TATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACT mu: TATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACT	ctgc\|CATC
Acc marginally increased	43279	wt: 0.7415 / mu: 0.7826 (marginal change - not scored)	wt: TATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTAC mu: TATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTAC	gcca\|TCAG
Acc increased	43270	wt: 0.42 / mu: 0.74	wt: GCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTC mu: GCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTC	tttg\|ACCC
Acc marginally increased	43269	wt: 0.7711 / mu: 0.8178 (marginal change - not scored)	wt: TGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCT mu: TGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCT	cttt\|GACC
Acc marginally increased	43266	wt: 0.7146 / mu: 0.7205 (marginal change - not scored)	wt: ACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGT mu: ACATGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGT	gttc\|TTTG
Acc marginally increased	43282	wt: 0.9233 / mu: 0.9318 (marginal change - not scored)	wt: TGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAG mu: TGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTACAAG	atca\|GAGT
Acc marginally increased	43276	wt: 0.4155 / mu: 0.4335 (marginal change - not scored)	wt: ATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGAC mu: ATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGAC	cctg\|CCAT

distance from splice site

296

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

254

mutated

not conserved

254

Ptroglodytes

all identical

ENSPTRG00000014668

252

Mmulatta

all identical

ENSMMUG00000020762

148

Fcatus

all identical

ENSFCAG00000011306

237

Mmusculus

all identical

ENSMUSG00000021900

238

Ggallus

all conserved

ENSGALG00000011216

222

Trubripes

all conserved

ENSTRUG00000014869

221

Drerio

all identical

ENSDARG00000006926

228

Dmelanogaster

not conserved

FBgn0040069

211

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000008991

225

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
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

761

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

993

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

43271

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

15686118

original gDNA sequence snippet

CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA

altered gDNA sequence snippet

CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA

original cDNA sequence snippet

CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA

altered cDNA sequence snippet

CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA

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 RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFGPAIRVL 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

0.90 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.957433947308538 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM993555)
known disease mutation: rs1901 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15686118A>GN/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.695A>G
cDNA.1053A>G
g.43271A>G

AA changes

D232G Score: 94 explain score(s)

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

232

frameshift

known variant

Reference ID: rs28934601

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.928
	1.322	0.935
(flanking)	0.04	0.928

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	43277	wt: 0.6540 / mu: 0.6668 (marginal change - not scored)	wt: TATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACT mu: TATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACT	ctgc\|CATC
Acc marginally increased	43279	wt: 0.7415 / mu: 0.7826 (marginal change - not scored)	wt: TATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTAC mu: TATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTAC	gcca\|TCAG
Acc increased	43270	wt: 0.42 / mu: 0.74	wt: GCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTC mu: GCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTC	tttg\|ACCC
Acc marginally increased	43269	wt: 0.7711 / mu: 0.8178 (marginal change - not scored)	wt: TGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCT mu: TGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCT	cttt\|GACC
Acc marginally increased	43266	wt: 0.7146 / mu: 0.7205 (marginal change - not scored)	wt: ACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGT mu: ACATGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGT	gttc\|TTTG
Acc marginally increased	43282	wt: 0.9233 / mu: 0.9318 (marginal change - not scored)	wt: TGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAG mu: TGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTACAAG	atca\|GAGT
Acc marginally increased	43276	wt: 0.4155 / mu: 0.4335 (marginal change - not scored)	wt: ATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGAC mu: ATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGAC	cctg\|CCAT

distance from splice site

296

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

232

mutated

not conserved

232

Ptroglodytes

all identical

ENSPTRG00000014668

252

Mmulatta

all identical

ENSMMUG00000020762

148

Fcatus

all identical

ENSFCAG00000011306

237

Mmusculus

all identical

ENSMUSG00000021900

238

Ggallus

all conserved

ENSGALG00000011216

222

Trubripes

all conserved

ENSTRUG00000014869

221

Drerio

all identical

ENSDARG00000006926

228

Dmelanogaster

not conserved

FBgn0040069

211

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000008991

225

protein features

start (aa)	end (aa)	feature	details
57	363	DOMAIN	CN hydrolase.	lost
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

695

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

1053

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

43271

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

15686118

original gDNA sequence snippet

CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA

altered gDNA sequence snippet

CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA

original cDNA sequence snippet

CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA

altered cDNA sequence snippet

CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA

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 LNPLALISRQ
EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW
NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF
SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF FGPAIRVLRD
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

0.90 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