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: ENST00000369760
Querying Taster for transcript #2: ENST00000320393
Querying Taster for transcript #3: ENST00000356489
Querying Taster for transcript #4: ENST00000545529
MT speed 3.4 s - this script 5.00495 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BCKDHB	disease_causing_automatic	0.999999999999995	simple_aae		affected	0	V119G	single base exchange	rs121965005		show file
BCKDHB	disease_causing_automatic	0.999999999999995	simple_aae		affected	0	V119G	single base exchange	rs121965005		show file
BCKDHB	disease_causing_automatic	0.999999999999995	simple_aae		affected	0	V119G	single base exchange	rs121965005		show file
BCKDHB	disease_causing_automatic	0.999999999999995	simple_aae		affected	0	V119G	single base exchange	rs121965005		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM045936)
known disease mutation: rs11939 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:80877407T>GN/A show variant in all transcripts IGV

HGNC symbol

BCKDHB

Ensembl transcript ID

ENST00000369760

Genbank transcript ID

N/A

UniProt peptide

P21953

alteration type

single base exchange

alteration region

CDS

DNA changes

c.356T>G
cDNA.403T>G
g.61044T>G

AA changes

V119G Score: 109 explain score(s)

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

119

frameshift

known variant

Reference ID: rs121965005
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs11939 (pathogenic for MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM045936)

known disease mutation at this position, please check HGMD for details (HGMD ID CM045936)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045936)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.605	1
	4.631	1
(flanking)	0.101	0.997

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
Donor increased	61036	wt: 0.60 / mu: 0.69	wt: GGAAAAGATAGAGTT mu: GGAAAAGATAGAGGT	AAAA\|gata
Donor gained	61038	0.90	mu: AAAAGATAGAGGTTT	AAGA\|taga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

119

mutated

not conserved

119

Ptroglodytes

all identical

ENSPTRG00000018372

119

Mmulatta

all identical

ENSMMUG00000004829

119

Fcatus

all identical

ENSFCAG00000010609

119

Mmusculus

all identical

ENSMUSG00000032263

Ggallus

all identical

ENSGALG00000015866

119

Trubripes

all identical

ENSTRUG00000002294

119

Drerio

no alignment

ENSDARG00000086611

n/a

Dmelanogaster

all identical

FBgn0039993

Celegans

all identical

F27D4.5

Xtropicalis

all identical

ENSXETG00000011773

108

protein features

start (aa)	end (aa)	feature	details
116	118	TURN		might get lost (downstream of altered splice site)
119	121	STRAND		lost
126	138	HELIX		might get lost (downstream of altered splice site)
143	146	STRAND		might get lost (downstream of altered splice site)
150	152	HELIX		might get lost (downstream of altered splice site)
154	156	HELIX		might get lost (downstream of altered splice site)
157	161	HELIX		might get lost (downstream of altered splice site)
164	166	HELIX		might get lost (downstream of altered splice site)
167	170	HELIX		might get lost (downstream of altered splice site)
171	173	TURN		might get lost (downstream of altered splice site)
180	187	STRAND		might get lost (downstream of altered splice site)
193	195	HELIX		might get lost (downstream of altered splice site)
201	205	HELIX		might get lost (downstream of altered splice site)
211	213	STRAND		might get lost (downstream of altered splice site)
218	230	HELIX		might get lost (downstream of altered splice site)
231	233	STRAND		might get lost (downstream of altered splice site)
235	240	STRAND		might get lost (downstream of altered splice site)
241	241	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
241	243	HELIX		might get lost (downstream of altered splice site)
244	246	TURN		might get lost (downstream of altered splice site)
249	254	STRAND		might get lost (downstream of altered splice site)
264	267	STRAND		might get lost (downstream of altered splice site)
270	276	STRAND		might get lost (downstream of altered splice site)
280	295	HELIX		might get lost (downstream of altered splice site)
299	303	STRAND		might get lost (downstream of altered splice site)
306	309	STRAND		might get lost (downstream of altered splice site)
312	322	HELIX		might get lost (downstream of altered splice site)
322	322	CONFLICT	T -> S (in Ref. 8; CAA36685).	might get lost (downstream of altered splice site)
325	333	STRAND		might get lost (downstream of altered splice site)
337	349	HELIX		might get lost (downstream of altered splice site)
350	352	HELIX		might get lost (downstream of altered splice site)
358	362	STRAND		might get lost (downstream of altered splice site)
372	375	HELIX		might get lost (downstream of altered splice site)
379	390	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

657 / 657

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

219 / 219

position of stopcodon in wt / mu cDNA

704 / 704

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

48 / 48

chromosome

strand

last intron/exon boundary

681

theoretical NMD boundary in CDS

583

length of CDS

657

coding sequence (CDS) position

356

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

403

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

61044

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

80877407

original gDNA sequence snippet

ATTTTAAGGAAAAGATAGAGTTTTTAATACCCCATTGTGTG

altered gDNA sequence snippet

ATTTTAAGGAAAAGATAGAGGTTTTAATACCCCATTGTGTG

original cDNA sequence snippet

CAAATATGGAAAAGATAGAGTTTTTAATACCCCATTGTGTG

altered cDNA sequence snippet

CAAATATGGAAAAGATAGAGGTTTTAATACCCCATTGTGTG

wildtype AA sequence

mutated AA sequence

speed

1.28 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: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM045936)
known disease mutation: rs11939 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:80877407T>GN/A show variant in all transcripts IGV

HGNC symbol

BCKDHB

Ensembl transcript ID

ENST00000320393

Genbank transcript ID

NM_183050

UniProt peptide

P21953

alteration type

single base exchange

alteration region

CDS

DNA changes

c.356T>G
cDNA.403T>G
g.61044T>G

AA changes

V119G Score: 109 explain score(s)

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

119

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.605	1
	4.631	1
(flanking)	0.101	0.997

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
Donor increased	61036	wt: 0.60 / mu: 0.69	wt: GGAAAAGATAGAGTT mu: GGAAAAGATAGAGGT	AAAA\|gata
Donor gained	61038	0.90	mu: AAAAGATAGAGGTTT	AAGA\|taga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

119

mutated

not conserved

119

Ptroglodytes

all identical

ENSPTRG00000018372

119

Mmulatta

all identical

ENSMMUG00000004829

119

Fcatus

all identical

ENSFCAG00000010609

119

Mmusculus

all identical

ENSMUSG00000032263

Ggallus

all identical

ENSGALG00000015866

119

Trubripes

all identical

ENSTRUG00000002294

119

Drerio

no alignment

ENSDARG00000086611

n/a

Dmelanogaster

all identical

FBgn0039993

Celegans

all identical

F27D4.5

Xtropicalis

all identical

ENSXETG00000011773

108

protein features

start (aa)	end (aa)	feature	details
116	118	TURN		might get lost (downstream of altered splice site)
119	121	STRAND		lost
126	138	HELIX		might get lost (downstream of altered splice site)
143	146	STRAND		might get lost (downstream of altered splice site)
150	152	HELIX		might get lost (downstream of altered splice site)
154	156	HELIX		might get lost (downstream of altered splice site)
157	161	HELIX		might get lost (downstream of altered splice site)
164	166	HELIX		might get lost (downstream of altered splice site)
167	170	HELIX		might get lost (downstream of altered splice site)
171	173	TURN		might get lost (downstream of altered splice site)
180	187	STRAND		might get lost (downstream of altered splice site)
193	195	HELIX		might get lost (downstream of altered splice site)
201	205	HELIX		might get lost (downstream of altered splice site)
211	213	STRAND		might get lost (downstream of altered splice site)
218	230	HELIX		might get lost (downstream of altered splice site)
231	233	STRAND		might get lost (downstream of altered splice site)
235	240	STRAND		might get lost (downstream of altered splice site)
241	241	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
241	243	HELIX		might get lost (downstream of altered splice site)
244	246	TURN		might get lost (downstream of altered splice site)
249	254	STRAND		might get lost (downstream of altered splice site)
264	267	STRAND		might get lost (downstream of altered splice site)
270	276	STRAND		might get lost (downstream of altered splice site)
280	295	HELIX		might get lost (downstream of altered splice site)
299	303	STRAND		might get lost (downstream of altered splice site)
306	309	STRAND		might get lost (downstream of altered splice site)
312	322	HELIX		might get lost (downstream of altered splice site)
322	322	CONFLICT	T -> S (in Ref. 8; CAA36685).	might get lost (downstream of altered splice site)
325	333	STRAND		might get lost (downstream of altered splice site)
337	349	HELIX		might get lost (downstream of altered splice site)
350	352	HELIX		might get lost (downstream of altered splice site)
358	362	STRAND		might get lost (downstream of altered splice site)
372	375	HELIX		might get lost (downstream of altered splice site)
379	390	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1179 / 1179

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

393 / 393

position of stopcodon in wt / mu cDNA

1226 / 1226

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

48 / 48

chromosome

strand

last intron/exon boundary

1086

theoretical NMD boundary in CDS

988

length of CDS

1179

coding sequence (CDS) position

356

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

403

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

61044

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

80877407

original gDNA sequence snippet

ATTTTAAGGAAAAGATAGAGTTTTTAATACCCCATTGTGTG

altered gDNA sequence snippet

ATTTTAAGGAAAAGATAGAGGTTTTAATACCCCATTGTGTG

original cDNA sequence snippet

CAAATATGGAAAAGATAGAGTTTTTAATACCCCATTGTGTG

altered cDNA sequence snippet

CAAATATGGAAAAGATAGAGGTTTTAATACCCCATTGTGTG

wildtype AA sequence

MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP
EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF
NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL
TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP
KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV
CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY*

mutated AA sequence

MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP
EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRGF
NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL
TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP
KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV
CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY*

speed

0.47 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM045936)
known disease mutation: rs11939 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:80877407T>GN/A show variant in all transcripts IGV

HGNC symbol

BCKDHB

Ensembl transcript ID

ENST00000356489

Genbank transcript ID

NM_000056

UniProt peptide

P21953

alteration type

single base exchange

alteration region

CDS

DNA changes

c.356T>G
cDNA.403T>G
g.61044T>G

AA changes

V119G Score: 109 explain score(s)

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

119

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.605	1
	4.631	1
(flanking)	0.101	0.997

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
Donor increased	61036	wt: 0.60 / mu: 0.69	wt: GGAAAAGATAGAGTT mu: GGAAAAGATAGAGGT	AAAA\|gata
Donor gained	61038	0.90	mu: AAAAGATAGAGGTTT	AAGA\|taga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

119

mutated

not conserved

119

Ptroglodytes

all identical

ENSPTRG00000018372

119

Mmulatta

all identical

ENSMMUG00000004829

119

Fcatus

all identical

ENSFCAG00000010609

119

Mmusculus

all identical

ENSMUSG00000032263

Ggallus

all identical

ENSGALG00000015866

119

Trubripes

all identical

ENSTRUG00000002294

119

Drerio

no alignment

ENSDARG00000086611

n/a

Dmelanogaster

all identical

FBgn0039993

Celegans

all identical

F27D4.5

Xtropicalis

all identical

ENSXETG00000011773

108

protein features

start (aa)	end (aa)	feature	details
116	118	TURN		might get lost (downstream of altered splice site)
119	121	STRAND		lost
126	138	HELIX		might get lost (downstream of altered splice site)
143	146	STRAND		might get lost (downstream of altered splice site)
150	152	HELIX		might get lost (downstream of altered splice site)
154	156	HELIX		might get lost (downstream of altered splice site)
157	161	HELIX		might get lost (downstream of altered splice site)
164	166	HELIX		might get lost (downstream of altered splice site)
167	170	HELIX		might get lost (downstream of altered splice site)
171	173	TURN		might get lost (downstream of altered splice site)
180	187	STRAND		might get lost (downstream of altered splice site)
193	195	HELIX		might get lost (downstream of altered splice site)
201	205	HELIX		might get lost (downstream of altered splice site)
211	213	STRAND		might get lost (downstream of altered splice site)
218	230	HELIX		might get lost (downstream of altered splice site)
231	233	STRAND		might get lost (downstream of altered splice site)
235	240	STRAND		might get lost (downstream of altered splice site)
241	241	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
241	243	HELIX		might get lost (downstream of altered splice site)
244	246	TURN		might get lost (downstream of altered splice site)
249	254	STRAND		might get lost (downstream of altered splice site)
264	267	STRAND		might get lost (downstream of altered splice site)
270	276	STRAND		might get lost (downstream of altered splice site)
280	295	HELIX		might get lost (downstream of altered splice site)
299	303	STRAND		might get lost (downstream of altered splice site)
306	309	STRAND		might get lost (downstream of altered splice site)
312	322	HELIX		might get lost (downstream of altered splice site)
322	322	CONFLICT	T -> S (in Ref. 8; CAA36685).	might get lost (downstream of altered splice site)
325	333	STRAND		might get lost (downstream of altered splice site)
337	349	HELIX		might get lost (downstream of altered splice site)
350	352	HELIX		might get lost (downstream of altered splice site)
358	362	STRAND		might get lost (downstream of altered splice site)
372	375	HELIX		might get lost (downstream of altered splice site)
379	390	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1179 / 1179

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

393 / 393

position of stopcodon in wt / mu cDNA

1226 / 1226

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

48 / 48

chromosome

strand

last intron/exon boundary

1235

theoretical NMD boundary in CDS

1137

length of CDS

1179

coding sequence (CDS) position

356

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

403

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

61044

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

80877407

original gDNA sequence snippet

ATTTTAAGGAAAAGATAGAGTTTTTAATACCCCATTGTGTG

altered gDNA sequence snippet

ATTTTAAGGAAAAGATAGAGGTTTTAATACCCCATTGTGTG

original cDNA sequence snippet

CAAATATGGAAAAGATAGAGTTTTTAATACCCCATTGTGTG

altered cDNA sequence snippet

CAAATATGGAAAAGATAGAGGTTTTAATACCCCATTGTGTG

wildtype AA sequence

mutated AA sequence

speed

1.27 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM045936)
known disease mutation: rs11939 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:80877407T>GN/A show variant in all transcripts IGV

HGNC symbol

BCKDHB

Ensembl transcript ID

ENST00000545529

Genbank transcript ID

N/A

UniProt peptide

P21953

alteration type

single base exchange

alteration region

CDS

DNA changes

c.356T>G
cDNA.384T>G
g.61044T>G

AA changes

V119G Score: 109 explain score(s)

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

119

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.605	1
	4.631	1
(flanking)	0.101	0.997

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
Donor increased	61036	wt: 0.60 / mu: 0.69	wt: GGAAAAGATAGAGTT mu: GGAAAAGATAGAGGT	AAAA\|gata
Donor gained	61038	0.90	mu: AAAAGATAGAGGTTT	AAGA\|taga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

119

mutated

not conserved

119

Ptroglodytes

all identical

ENSPTRG00000018372

119

Mmulatta

all identical

ENSMMUG00000004829

119

Fcatus

all identical

ENSFCAG00000010609

119

Mmusculus

all identical

ENSMUSG00000032263

Ggallus

all identical

ENSGALG00000015866

119

Trubripes

all identical

ENSTRUG00000002294

119

Drerio

no alignment

ENSDARG00000086611

n/a

Dmelanogaster

all identical

FBgn0039993

Celegans

all identical

F27D4.5

Xtropicalis

all identical

ENSXETG00000011773

108

protein features

start (aa)	end (aa)	feature	details
116	118	TURN		might get lost (downstream of altered splice site)
119	121	STRAND		lost
126	138	HELIX		might get lost (downstream of altered splice site)
143	146	STRAND		might get lost (downstream of altered splice site)
150	152	HELIX		might get lost (downstream of altered splice site)
154	156	HELIX		might get lost (downstream of altered splice site)
157	161	HELIX		might get lost (downstream of altered splice site)
164	166	HELIX		might get lost (downstream of altered splice site)
167	170	HELIX		might get lost (downstream of altered splice site)
171	173	TURN		might get lost (downstream of altered splice site)
180	187	STRAND		might get lost (downstream of altered splice site)
193	195	HELIX		might get lost (downstream of altered splice site)
201	205	HELIX		might get lost (downstream of altered splice site)
211	213	STRAND		might get lost (downstream of altered splice site)
218	230	HELIX		might get lost (downstream of altered splice site)
231	233	STRAND		might get lost (downstream of altered splice site)
235	240	STRAND		might get lost (downstream of altered splice site)
241	241	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
241	243	HELIX		might get lost (downstream of altered splice site)
244	246	TURN		might get lost (downstream of altered splice site)
249	254	STRAND		might get lost (downstream of altered splice site)
264	267	STRAND		might get lost (downstream of altered splice site)
270	276	STRAND		might get lost (downstream of altered splice site)
280	295	HELIX		might get lost (downstream of altered splice site)
299	303	STRAND		might get lost (downstream of altered splice site)
306	309	STRAND		might get lost (downstream of altered splice site)
312	322	HELIX		might get lost (downstream of altered splice site)
322	322	CONFLICT	T -> S (in Ref. 8; CAA36685).	might get lost (downstream of altered splice site)
325	333	STRAND		might get lost (downstream of altered splice site)
337	349	HELIX		might get lost (downstream of altered splice site)
350	352	HELIX		might get lost (downstream of altered splice site)
358	362	STRAND		might get lost (downstream of altered splice site)
372	375	HELIX		might get lost (downstream of altered splice site)
379	390	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

657 / 657

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

219 / 219

position of stopcodon in wt / mu cDNA

685 / 685

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

29 / 29

chromosome

strand

last intron/exon boundary

1161

theoretical NMD boundary in CDS

1082

length of CDS

657

coding sequence (CDS) position

356

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

384

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

61044

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

80877407

original gDNA sequence snippet

ATTTTAAGGAAAAGATAGAGTTTTTAATACCCCATTGTGTG

altered gDNA sequence snippet

ATTTTAAGGAAAAGATAGAGGTTTTAATACCCCATTGTGTG

original cDNA sequence snippet

CAAATATGGAAAAGATAGAGTTTTTAATACCCCATTGTGTG

altered cDNA sequence snippet

CAAATATGGAAAAGATAGAGGTTTTAATACCCCATTGTGTG

wildtype AA sequence

mutated AA sequence

speed

0.38 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