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: ENST00000554998
Querying Taster for transcript #2: ENST00000402312
Querying Taster for transcript #3: ENST00000335290
Querying Taster for transcript #4: ENST00000554175
MT speed 0 s - this script 4.639361 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
WDR25	polymorphism_automatic	3.49720252756924e-14	simple_aae		affected		H149R	single base exchange	rs2273800		show file
WDR25	polymorphism_automatic	3.49720252756924e-14	simple_aae		affected		H149R	single base exchange	rs2273800		show file
WDR25	polymorphism_automatic	3.49720252756924e-14	simple_aae		affected		H149R	single base exchange	rs2273800		show file
WDR25	polymorphism_automatic	3.49720252756924e-14	simple_aae		affected		H149R	single base exchange	rs2273800		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999965 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:100847707A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR25

Ensembl transcript ID

ENST00000554998

Genbank transcript ID

N/A

UniProt peptide

Q64LD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.446A>G
cDNA.533A>G
g.4953A>G

AA changes

H149R Score: 29 explain score(s)

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

149

frameshift

known variant

Reference ID: rs2273800

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1111	1018	2129
ExAC	30756	-28745	2011

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.497	0
	-0.461	0
(flanking)	-0.55	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	4961	wt: 0.25 / mu: 0.38	wt: AGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTAGGT mu: AGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAGGT	caaa\|GTGA
Acc marginally increased	4958	wt: 0.9603 / mu: 0.9620 (marginal change - not scored)	wt: CCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTA mu: CCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTA	gctc\|AAAG
Acc marginally increased	4959	wt: 0.8134 / mu: 0.8304 (marginal change - not scored)	wt: CAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTAG mu: CAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAG	ctca\|AAGT
Acc increased	4952	wt: 0.67 / mu: 0.84	wt: ACTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAA mu: ACTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAA	ttcc\|ATGC
Acc gained	4960	0.31	mu: AAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAGG	tcaa\|AGTG

distance from splice site

377

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

149

mutated

not conserved

149

Ptroglodytes

not conserved

ENSPTRG00000006722

149

Mmulatta

not conserved

ENSMMUG00000013871

148

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000040877

141

Ggallus

no alignment

ENSGALG00000011230

n/a

Trubripes

no alignment

ENSTRUG00000009402

n/a

Drerio

no alignment

ENSDARG00000091201

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000002523

n/a

protein features

start (aa)	end (aa)	feature	details
165	165	CONFLICT	Q -> R (in Ref. 2; BAF84649).	might get lost (downstream of altered splice site)
244	286	REPEAT	WD 1.	might get lost (downstream of altered splice site)
290	329	REPEAT	WD 2.	might get lost (downstream of altered splice site)
330	373	REPEAT	WD 3.	might get lost (downstream of altered splice site)
375	420	REPEAT	WD 4.	might get lost (downstream of altered splice site)
424	463	REPEAT	WD 5.	might get lost (downstream of altered splice site)
459	459	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
462	462	CONFLICT	S -> I (in Ref. 1; AAQ63174).	might get lost (downstream of altered splice site)
469	510	REPEAT	WD 6.	might get lost (downstream of altered splice site)
513	544	REPEAT	WD 7.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1635 / 1635

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

545 / 545

position of stopcodon in wt / mu cDNA

1722 / 1722

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

88 / 88

chromosome

strand

last intron/exon boundary

1501

theoretical NMD boundary in CDS

1363

length of CDS

1635

coding sequence (CDS) position

446

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

533

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

4953

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

100847707

original gDNA sequence snippet

CTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAA

altered gDNA sequence snippet

CTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAA

original cDNA sequence snippet

CTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAA

altered cDNA sequence snippet

CTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAA

wildtype AA sequence

MTARTLSLMA SLVAYDDSDS EAETEHAGSF NATGQQKDTS GVARPPGQDF ASGTLDVPKA
GAQPTKHGSC EDPGGYRLPL AQLGRSDWGS CPSQRLQWPG KEPQVTFPIK EPSCSSLWTS
HVPASHMPLA AARFKQVKLS RNFPKSSFHA QSESETVGKN GSSFQKKKCE DCVVPYTPRR
LRQRQALSTE TGKGKDVEPQ GPPAGRAPAP LYVGPGVSEF IQPYLNSHYK ETTVPRKVLF
HLRGHRGPVN TIQWCPVLSK SHMLLSTSMD KTFKVWNAVD SGHCLQTYSL HTEAVRAARW
APCGRRILSG GFDFALHLTD LETGTQLFSG RSDFRITTLK FHPKDHNIFL CGGFSSEMKA
WDIRTGKVMR SYKATIQQTL DILFLREGSE FLSSTDASTR DSADRTIIAW DFRTSAKISN
QIFHERFTCP SLALHPREPV FLAQTNGNYL ALFSTVWPYR MSRRRRYEGH KVEGYSVGCE
CSPGGDLLVT GSADGRVLMY SFRTASRACT LQGHTQACVG TTYHPVLPSV LATCSWGGDM
KIWH*

mutated AA sequence

MTARTLSLMA SLVAYDDSDS EAETEHAGSF NATGQQKDTS GVARPPGQDF ASGTLDVPKA
GAQPTKHGSC EDPGGYRLPL AQLGRSDWGS CPSQRLQWPG KEPQVTFPIK EPSCSSLWTS
HVPASHMPLA AARFKQVKLS RNFPKSSFRA QSESETVGKN GSSFQKKKCE DCVVPYTPRR
LRQRQALSTE TGKGKDVEPQ GPPAGRAPAP LYVGPGVSEF IQPYLNSHYK ETTVPRKVLF
HLRGHRGPVN TIQWCPVLSK SHMLLSTSMD KTFKVWNAVD SGHCLQTYSL HTEAVRAARW
APCGRRILSG GFDFALHLTD LETGTQLFSG RSDFRITTLK FHPKDHNIFL CGGFSSEMKA
WDIRTGKVMR SYKATIQQTL DILFLREGSE FLSSTDASTR DSADRTIIAW DFRTSAKISN
QIFHERFTCP SLALHPREPV FLAQTNGNYL ALFSTVWPYR MSRRRRYEGH KVEGYSVGCE
CSPGGDLLVT GSADGRVLMY SFRTASRACT LQGHTQACVG TTYHPVLPSV LATCSWGGDM
KIWH*

speed

1.09 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999965 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:100847707A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR25

Ensembl transcript ID

ENST00000402312

Genbank transcript ID

NM_001161476

UniProt peptide

Q64LD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.446A>G
cDNA.518A>G
g.4953A>G

AA changes

H149R Score: 29 explain score(s)

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

149

frameshift

known variant

Reference ID: rs2273800

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1111	1018	2129
ExAC	30756	-28745	2011

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.497	0
	-0.461	0
(flanking)	-0.55	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	4961	wt: 0.25 / mu: 0.38	wt: AGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTAGGT mu: AGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAGGT	caaa\|GTGA
Acc marginally increased	4958	wt: 0.9603 / mu: 0.9620 (marginal change - not scored)	wt: CCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTA mu: CCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTA	gctc\|AAAG
Acc marginally increased	4959	wt: 0.8134 / mu: 0.8304 (marginal change - not scored)	wt: CAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTAG mu: CAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAG	ctca\|AAGT
Acc increased	4952	wt: 0.67 / mu: 0.84	wt: ACTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAA mu: ACTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAA	ttcc\|ATGC
Acc gained	4960	0.31	mu: AAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAGG	tcaa\|AGTG

distance from splice site

377

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

149

mutated

not conserved

149

Ptroglodytes

not conserved

ENSPTRG00000006722

149

Mmulatta

not conserved

ENSMMUG00000013871

148

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000040877

141

Ggallus

no alignment

ENSGALG00000011230

n/a

Trubripes

no alignment

ENSTRUG00000009402

n/a

Drerio

no alignment

ENSDARG00000091201

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000002523

n/a

protein features

start (aa)	end (aa)	feature	details
165	165	CONFLICT	Q -> R (in Ref. 2; BAF84649).	might get lost (downstream of altered splice site)
244	286	REPEAT	WD 1.	might get lost (downstream of altered splice site)
290	329	REPEAT	WD 2.	might get lost (downstream of altered splice site)
330	373	REPEAT	WD 3.	might get lost (downstream of altered splice site)
375	420	REPEAT	WD 4.	might get lost (downstream of altered splice site)
424	463	REPEAT	WD 5.	might get lost (downstream of altered splice site)
459	459	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
462	462	CONFLICT	S -> I (in Ref. 1; AAQ63174).	might get lost (downstream of altered splice site)
469	510	REPEAT	WD 6.	might get lost (downstream of altered splice site)
513	544	REPEAT	WD 7.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1635 / 1635

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

545 / 545

position of stopcodon in wt / mu cDNA

1707 / 1707

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

73 / 73

chromosome

strand

last intron/exon boundary

1486

theoretical NMD boundary in CDS

1363

length of CDS

1635

coding sequence (CDS) position

446

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

518

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

4953

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

100847707

original gDNA sequence snippet

CTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAA

altered gDNA sequence snippet

CTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAA

original cDNA sequence snippet

CTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAA

altered cDNA sequence snippet

CTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAA

wildtype AA sequence

mutated AA sequence

speed

0.69 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999965 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:100847707A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR25

Ensembl transcript ID

ENST00000335290

Genbank transcript ID

NM_024515

UniProt peptide

Q64LD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.446A>G
cDNA.672A>G
g.4953A>G

AA changes

H149R Score: 29 explain score(s)

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

149

frameshift

known variant

Reference ID: rs2273800

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1111	1018	2129
ExAC	30756	-28745	2011

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.497	0
	-0.461	0
(flanking)	-0.55	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	4961	wt: 0.25 / mu: 0.38	wt: AGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTAGGT mu: AGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAGGT	caaa\|GTGA
Acc marginally increased	4958	wt: 0.9603 / mu: 0.9620 (marginal change - not scored)	wt: CCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTA mu: CCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTA	gctc\|AAAG
Acc marginally increased	4959	wt: 0.8134 / mu: 0.8304 (marginal change - not scored)	wt: CAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTAG mu: CAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAG	ctca\|AAGT
Acc increased	4952	wt: 0.67 / mu: 0.84	wt: ACTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAA mu: ACTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAA	ttcc\|ATGC
Acc gained	4960	0.31	mu: AAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAGG	tcaa\|AGTG

distance from splice site

377

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

149

mutated

not conserved

149

Ptroglodytes

not conserved

ENSPTRG00000006722

149

Mmulatta

not conserved

ENSMMUG00000013871

148

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000040877

141

Ggallus

no alignment

ENSGALG00000011230

n/a

Trubripes

no alignment

ENSTRUG00000009402

n/a

Drerio

no alignment

ENSDARG00000091201

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000002523

n/a

protein features

start (aa)	end (aa)	feature	details
165	165	CONFLICT	Q -> R (in Ref. 2; BAF84649).	might get lost (downstream of altered splice site)
244	286	REPEAT	WD 1.	might get lost (downstream of altered splice site)
290	329	REPEAT	WD 2.	might get lost (downstream of altered splice site)
330	373	REPEAT	WD 3.	might get lost (downstream of altered splice site)
375	420	REPEAT	WD 4.	might get lost (downstream of altered splice site)
424	463	REPEAT	WD 5.	might get lost (downstream of altered splice site)
459	459	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
462	462	CONFLICT	S -> I (in Ref. 1; AAQ63174).	might get lost (downstream of altered splice site)
469	510	REPEAT	WD 6.	might get lost (downstream of altered splice site)
513	544	REPEAT	WD 7.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1635 / 1635

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

545 / 545

position of stopcodon in wt / mu cDNA

1861 / 1861

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

227 / 227

chromosome

strand

last intron/exon boundary

1640

theoretical NMD boundary in CDS

1363

length of CDS

1635

coding sequence (CDS) position

446

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

672

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

4953

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

100847707

original gDNA sequence snippet

CTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAA

altered gDNA sequence snippet

CTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAA

original cDNA sequence snippet

CTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAA

altered cDNA sequence snippet

CTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAA

wildtype AA sequence

mutated AA sequence

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999965 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:100847707A>GN/A show variant in all transcripts IGV

HGNC symbol

WDR25

Ensembl transcript ID

ENST00000554175

Genbank transcript ID

N/A

UniProt peptide

Q64LD2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.446A>G
cDNA.625A>G
g.4953A>G

AA changes

H149R Score: 29 explain score(s)

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

149

frameshift

known variant

Reference ID: rs2273800

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1111	1018	2129
ExAC	30756	-28745	2011

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.497	0
	-0.461	0
(flanking)	-0.55	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	4961	wt: 0.25 / mu: 0.38	wt: AGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTAGGT mu: AGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAGGT	caaa\|GTGA
Acc marginally increased	4958	wt: 0.9603 / mu: 0.9620 (marginal change - not scored)	wt: CCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTA mu: CCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTA	gctc\|AAAG
Acc marginally increased	4959	wt: 0.8134 / mu: 0.8304 (marginal change - not scored)	wt: CAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAACCGTAG mu: CAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAG	ctca\|AAGT
Acc increased	4952	wt: 0.67 / mu: 0.84	wt: ACTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAA mu: ACTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAA	ttcc\|ATGC
Acc gained	4960	0.31	mu: AAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAACCGTAGG	tcaa\|AGTG

distance from splice site

377

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

149

mutated

not conserved

149

Ptroglodytes

not conserved

ENSPTRG00000006722

149

Mmulatta

not conserved

ENSMMUG00000013871

148

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000040877

141

Ggallus

no alignment

ENSGALG00000011230

n/a

Trubripes

no alignment

ENSTRUG00000009402

n/a

Drerio

no alignment

ENSDARG00000091201

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000002523

n/a

protein features

start (aa)	end (aa)	feature	details
165	165	CONFLICT	Q -> R (in Ref. 2; BAF84649).	might get lost (downstream of altered splice site)
244	286	REPEAT	WD 1.	might get lost (downstream of altered splice site)
290	329	REPEAT	WD 2.	might get lost (downstream of altered splice site)
330	373	REPEAT	WD 3.	might get lost (downstream of altered splice site)
375	420	REPEAT	WD 4.	might get lost (downstream of altered splice site)
424	463	REPEAT	WD 5.	might get lost (downstream of altered splice site)
459	459	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
462	462	CONFLICT	S -> I (in Ref. 1; AAQ63174).	might get lost (downstream of altered splice site)
469	510	REPEAT	WD 6.	might get lost (downstream of altered splice site)
513	544	REPEAT	WD 7.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

825 / 825

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

275 / 275

position of stopcodon in wt / mu cDNA

1004 / 1004

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

180 / 180

chromosome

strand

last intron/exon boundary

1002

theoretical NMD boundary in CDS

772

length of CDS

825

coding sequence (CDS) position

446

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

625

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

4953

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

100847707

original gDNA sequence snippet

CTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAA

altered gDNA sequence snippet

CTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAA

original cDNA sequence snippet

CTTTCCCAAGTCATCTTTCCATGCTCAAAGTGAGTCTGAAA

altered cDNA sequence snippet

CTTTCCCAAGTCATCTTTCCGTGCTCAAAGTGAGTCTGAAA

wildtype AA sequence

mutated AA sequence

speed

0.81 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems