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 4.716855 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BTD	disease_causing_automatic	0.999970059429052	simple_aae		affected	0	Q458H	single base exchange	rs80338685		show file
BTD	disease_causing_automatic	0.999970059429052	simple_aae		affected	0	Q456H	single base exchange	rs80338685		show file
BTD	disease_causing_automatic	0.999970059429052	simple_aae		affected	0	Q458H	single base exchange	rs80338685		show file
BTD	disease_causing_automatic	0.999970059429052	simple_aae		affected	0	Q436H	single base exchange	rs80338685		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999970059429052 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM970190)
known disease mutation: rs1902 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15686731A>CN/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.1374A>C
cDNA.1462A>C
g.43884A>C

AA changes

Q458H Score: 24 explain score(s)

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

458

frameshift

known variant

Reference ID: rs80338685

database	homozygous (C/C)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	49	49

known disease mutation: rs1902 (pathogenic for Intellectual disability|Biotinidase deficiency|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970190)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970190)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970190)

regulatory features

H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.876	1
	0.494	0.995
(flanking)	3.408	0.994

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	43884	wt: 0.7932 / mu: 0.7965 (marginal change - not scored)	wt: CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG mu: CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG	ccaa\|GTGT
Donor marginally increased	43883	wt: 0.5745 / mu: 0.6287 (marginal change - not scored)	wt: CATCCAAGTGTGTGC mu: CATCCACGTGTGTGC	TCCA\|agtg
Acc gained	43890	0.50	mu: ACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGGGG	gtgt\|GCCC
Acc gained	43886	0.53	mu: TGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTG	acgt\|GTGT
Acc gained	43888	0.56	mu: GCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGG	gtgt\|GTGC

distance from splice site

359

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

458

mutated

not conserved

458

Ptroglodytes

all identical

ENSPTRG00000014668

456

Mmulatta

all identical

ENSMMUG00000020762

352

Fcatus

all identical

ENSFCAG00000011306

441

Mmusculus

all identical

ENSMUSG00000021900

442

Ggallus

all identical

ENSGALG00000011216

430

Trubripes

all identical

ENSTRUG00000014869

398

Drerio

all conserved

ENSDARG00000006926

431

Dmelanogaster

all conserved

FBgn0040069

403

NVD

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

425

protein features

start (aa)	end (aa)	feature	details
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

1374

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

1462

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

43884

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

15686731

original gDNA sequence snippet

CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG

altered gDNA sequence snippet

CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG

original cDNA sequence snippet

CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG

altered cDNA sequence snippet

CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG

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 LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIHVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*

speed

1.21 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: 0.999970059429052 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM970190)
known disease mutation: rs1902 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15686731A>CN/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.1368A>C
cDNA.1477A>C
g.43884A>C

AA changes

Q456H Score: 24 explain score(s)

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

456

frameshift

known variant

Reference ID: rs80338685

database	homozygous (C/C)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	49	49

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.876	1
	0.494	0.995
(flanking)	3.408	0.994

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	43884	wt: 0.7932 / mu: 0.7965 (marginal change - not scored)	wt: CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG mu: CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG	ccaa\|GTGT
Donor marginally increased	43883	wt: 0.5745 / mu: 0.6287 (marginal change - not scored)	wt: CATCCAAGTGTGTGC mu: CATCCACGTGTGTGC	TCCA\|agtg
Acc gained	43890	0.50	mu: ACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGGGG	gtgt\|GCCC
Acc gained	43886	0.53	mu: TGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTG	acgt\|GTGT
Acc gained	43888	0.56	mu: GCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGG	gtgt\|GTGC

distance from splice site

599

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

456

mutated

not conserved

456

Ptroglodytes

all identical

ENSPTRG00000014668

456

Mmulatta

all identical

ENSMMUG00000020762

352

Fcatus

all identical

ENSFCAG00000011306

441

Mmusculus

all identical

ENSMUSG00000021900

442

Ggallus

all identical

ENSGALG00000011216

430

Trubripes

all identical

ENSTRUG00000014869

398

Drerio

all conserved

ENSDARG00000006926

431

Dmelanogaster

all conserved

FBgn0040069

403

NVD

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

425

protein features

start (aa)	end (aa)	feature	details
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

1368

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

1477

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

43884

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

15686731

original gDNA sequence snippet

CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG

altered gDNA sequence snippet

CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG

original cDNA sequence snippet

CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG

altered cDNA sequence snippet

CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG

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 FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIHVCAL VRCGGLGFDT CGQEITEATG
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY
ERD*

speed

1.29 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999970059429052 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM970190)
known disease mutation: rs1902 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15686731A>CN/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.1374A>C
cDNA.1606A>C
g.43884A>C

AA changes

Q458H Score: 24 explain score(s)

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

458

frameshift

known variant

Reference ID: rs80338685

database	homozygous (C/C)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	49	49

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.876	1
	0.494	0.995
(flanking)	3.408	0.994

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	43884	wt: 0.7932 / mu: 0.7965 (marginal change - not scored)	wt: CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG mu: CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG	ccaa\|GTGT
Donor marginally increased	43883	wt: 0.5745 / mu: 0.6287 (marginal change - not scored)	wt: CATCCAAGTGTGTGC mu: CATCCACGTGTGTGC	TCCA\|agtg
Acc gained	43890	0.50	mu: ACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGGGG	gtgt\|GCCC
Acc gained	43886	0.53	mu: TGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTG	acgt\|GTGT
Acc gained	43888	0.56	mu: GCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGG	gtgt\|GTGC

distance from splice site

492

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

458

mutated

not conserved

458

Ptroglodytes

all identical

ENSPTRG00000014668

456

Mmulatta

all identical

ENSMMUG00000020762

352

Fcatus

all identical

ENSFCAG00000011306

441

Mmusculus

all identical

ENSMUSG00000021900

442

Ggallus

all identical

ENSGALG00000011216

430

Trubripes

all identical

ENSTRUG00000014869

398

Drerio

all conserved

ENSDARG00000006926

431

Dmelanogaster

all conserved

FBgn0040069

403

NVD

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

425

protein features

start (aa)	end (aa)	feature	details
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

1374

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

1606

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

43884

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

15686731

original gDNA sequence snippet

CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG

altered gDNA sequence snippet

CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG

original cDNA sequence snippet

CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG

altered cDNA sequence snippet

CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG

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 LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIHVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*

speed

0.14 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999970059429052 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM970190)
known disease mutation: rs1902 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:15686731A>CN/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.1308A>C
cDNA.1666A>C
g.43884A>C

AA changes

Q436H Score: 24 explain score(s)

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

436

frameshift

known variant

Reference ID: rs80338685

database	homozygous (C/C)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	49	49

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.876	1
	0.494	0.995
(flanking)	3.408	0.994

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	43884	wt: 0.7932 / mu: 0.7965 (marginal change - not scored)	wt: CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG mu: CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG	ccaa\|GTGT
Donor marginally increased	43883	wt: 0.5745 / mu: 0.6287 (marginal change - not scored)	wt: CATCCAAGTGTGTGC mu: CATCCACGTGTGTGC	TCCA\|agtg
Acc gained	43890	0.50	mu: ACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGGGG	gtgt\|GCCC
Acc gained	43886	0.53	mu: TGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTG	acgt\|GTGT
Acc gained	43888	0.56	mu: GCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGG	gtgt\|GTGC

distance from splice site

473

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

436

mutated

not conserved

436

Ptroglodytes

all identical

ENSPTRG00000014668

456

Mmulatta

all identical

ENSMMUG00000020762

352

Fcatus

all identical

ENSFCAG00000011306

441

Mmusculus

all identical

ENSMUSG00000021900

442

Ggallus

all identical

ENSGALG00000011216

430

Trubripes

all identical

ENSTRUG00000014869

398

Drerio

all conserved

ENSDARG00000006926

431

Dmelanogaster

all conserved

FBgn0040069

403

NVD

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000008991

425

protein features

start (aa)	end (aa)	feature	details
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

1308

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

1666

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

43884

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

15686731

original gDNA sequence snippet

CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG

altered gDNA sequence snippet

CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG

original cDNA sequence snippet

CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG

altered cDNA sequence snippet

CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG

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 FDPAIRVLRD
YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN VHHPVLGMTG SGIHTPLESF
WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK FLKILSGDPY CEKDAQEVHC
DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL
GVFDGLHTVH GTYYIHVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD*

speed

1.23 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