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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000448430
Querying Taster for transcript #2: ENST00000457155
Querying Taster for transcript #3: ENST00000321149
Querying Taster for transcript #4: ENST00000380679
Querying Taster for transcript #5: ENST00000348518
MT speed 0 s - this script 4.434237 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DNAAF4	polymorphism_automatic	0.19267467970693	simple_aae		affected		E191G	single base exchange	rs600753		show file
DNAAF4	polymorphism_automatic	0.19267467970693	simple_aae		affected		E191G	single base exchange	rs600753		show file
DNAAF4	polymorphism_automatic	0.19267467970693	simple_aae		affected		E191G	single base exchange	rs600753		show file
DNAAF4	polymorphism_automatic	0.19267467970693	simple_aae		affected		E191G	single base exchange	rs600753		show file
DNAAF4	polymorphism_automatic	0.19267467970693	simple_aae		affected		E191G	single base exchange	rs600753		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.80732532029307 (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)

chr15:55759193T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF4

Ensembl transcript ID

ENST00000448430

Genbank transcript ID

N/A

UniProt peptide

Q8WXU2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.572A>G
cDNA.591A>G
g.41240A>G

AA changes

E191G Score: 98 explain score(s)

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

191

frameshift

known variant

Reference ID: rs600753

database	homozygous (C/C)	heterozygous	allele carriers
1000G	767	1112	1879
ExAC	17585	-2403	15182

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.139	0.497
	1.453	0.86
(flanking)	1.699	0.939

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 gained	41239	0.55	mu: AAGAAGGAAGAAAAA	GAAG\|gaag
Donor gained	41234	0.57	mu: AATTAAAGAAGGAAG	TTAA\|agaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

191

mutated

not conserved

191

Ptroglodytes

all identical

ENSPTRG00000007098

191

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000092192

191

Ggallus

all conserved

ENSGALG00000004387

191

IPH

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000007792

190

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000007369

188

protein features

start (aa)	end (aa)	feature	details
290	323	REPEAT	TPR 1.	might get lost (downstream of altered splice site)
324	357	REPEAT	TPR 2.	might get lost (downstream of altered splice site)
366	399	REPEAT	TPR 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1146 / 1146

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

382 / 382

position of stopcodon in wt / mu cDNA

1165 / 1165

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

20 / 20

chromosome

strand

-1

last intron/exon boundary

1067

theoretical NMD boundary in CDS

997

length of CDS

1146

coding sequence (CDS) position

572

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

591

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

41240

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

55759193

original gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

original cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

wildtype AA sequence

MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKALE AWKEYQRKAE EQKKIQREEK
LCQKEKQIKE ERKKIKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKE FCSLEGIECQ
ASEPKLSHHI PSDLHVYIQM A*

mutated AA sequence

MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKALE AWKEYQRKAE EQKKIQREEK
LCQKEKQIKE GRKKIKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKE FCSLEGIECQ
ASEPKLSHHI PSDLHVYIQM A*

speed

0.64 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: 0.80732532029307 (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)

chr15:55759193T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF4

Ensembl transcript ID

ENST00000457155

Genbank transcript ID

N/A

UniProt peptide

Q8WXU2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.572A>G
cDNA.620A>G
g.41240A>G

AA changes

E191G Score: 98 explain score(s)

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

191

frameshift

known variant

Reference ID: rs600753

database	homozygous (C/C)	heterozygous	allele carriers
1000G	767	1112	1879
ExAC	17585	-2403	15182

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.139	0.497
	1.453	0.86
(flanking)	1.699	0.939

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 gained	41239	0.55	mu: AAGAAGGAAGAAAAA	GAAG\|gaag
Donor gained	41234	0.57	mu: AATTAAAGAAGGAAG	TTAA\|agaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

191

mutated

not conserved

191

Ptroglodytes

all identical

ENSPTRG00000007098

191

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000092192

191

Ggallus

all conserved

ENSGALG00000004387

191

IPH

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000007792

190

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000007369

188

protein features

start (aa)	end (aa)	feature	details
290	323	REPEAT	TPR 1.	might get lost (downstream of altered splice site)
324	357	REPEAT	TPR 2.	might get lost (downstream of altered splice site)
366	399	REPEAT	TPR 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1131 / 1131

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

377 / 377

position of stopcodon in wt / mu cDNA

1179 / 1179

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

49 / 49

chromosome

strand

-1

last intron/exon boundary

1096

theoretical NMD boundary in CDS

997

length of CDS

1131

coding sequence (CDS) position

572

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

620

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

41240

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

55759193

original gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

original cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

wildtype AA sequence

mutated AA sequence

MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKALE AWKEYQRKAE EQKKIQREEK
LCQKEKQIKE GRKKIKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKA YRIMKRHLRL
IHPTKLYKLM LRRFGM*

speed

0.87 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.80732532029307 (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)

chr15:55759193T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF4

Ensembl transcript ID

ENST00000321149

Genbank transcript ID

NM_130810

UniProt peptide

Q8WXU2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.572A>G
cDNA.940A>G
g.41240A>G

AA changes

E191G Score: 98 explain score(s)

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

191

frameshift

known variant

Reference ID: rs600753

database	homozygous (C/C)	heterozygous	allele carriers
1000G	767	1112	1879
ExAC	17585	-2403	15182

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.139	0.497
	1.453	0.86
(flanking)	1.699	0.939

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 gained	41239	0.55	mu: AAGAAGGAAGAAAAA	GAAG\|gaag
Donor gained	41234	0.57	mu: AATTAAAGAAGGAAG	TTAA\|agaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

191

mutated

not conserved

191

Ptroglodytes

all identical

ENSPTRG00000007098

191

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000092192

191

Ggallus

all conserved

ENSGALG00000004387

191

IPH

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000007792

190

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000007369

188

protein features

start (aa)	end (aa)	feature	details
290	323	REPEAT	TPR 1.	might get lost (downstream of altered splice site)
324	357	REPEAT	TPR 2.	might get lost (downstream of altered splice site)
366	399	REPEAT	TPR 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1263 / 1263

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

421 / 421

position of stopcodon in wt / mu cDNA

1631 / 1631

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

369 / 369

chromosome

strand

-1

last intron/exon boundary

1522

theoretical NMD boundary in CDS

1103

length of CDS

1263

coding sequence (CDS) position

572

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

940

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

41240

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

55759193

original gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

original cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

wildtype AA sequence

mutated AA sequence

MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKALE AWKEYQRKAE EQKKIQREEK
LCQKEKQIKE GRKKIKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKA LELLMPPVTD
NANARMKAHV RRGTAFCQLE LYVEGLQDYE AALKIDPSNK IVQIDAEKIR NVIQGTELKS
*

speed

0.67 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.80732532029307 (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)

chr15:55759193T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF4

Ensembl transcript ID

ENST00000348518

Genbank transcript ID

NM_001033559

UniProt peptide

Q8WXU2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.572A>G
cDNA.940A>G
g.41240A>G

AA changes

E191G Score: 98 explain score(s)

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

191

frameshift

known variant

Reference ID: rs600753

database	homozygous (C/C)	heterozygous	allele carriers
1000G	767	1112	1879
ExAC	17585	-2403	15182

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.139	0.497
	1.453	0.86
(flanking)	1.699	0.939

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 gained	41239	0.55	mu: AAGAAGGAAGAAAAA	GAAG\|gaag
Donor gained	41234	0.57	mu: AATTAAAGAAGGAAG	TTAA\|agaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

191

mutated

not conserved

191

Ptroglodytes

all identical

ENSPTRG00000007098

191

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000092192

191

Ggallus

all conserved

ENSGALG00000004387

191

IPH

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000007792

190

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000007369

188

protein features

start (aa)	end (aa)	feature	details
290	323	REPEAT	TPR 1.	might get lost (downstream of altered splice site)
324	357	REPEAT	TPR 2.	might get lost (downstream of altered splice site)
366	399	REPEAT	TPR 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1131 / 1131

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

377 / 377

position of stopcodon in wt / mu cDNA

1499 / 1499

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

369 / 369

chromosome

strand

-1

last intron/exon boundary

1416

theoretical NMD boundary in CDS

997

length of CDS

1131

coding sequence (CDS) position

572

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

940

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

41240

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

55759193

original gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

original cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

wildtype AA sequence

mutated AA sequence

MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKALE AWKEYQRKAE EQKKIQREEK
LCQKEKQIKE GRKKIKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKA YRIMKRHLRL
IHPTKLYKLM LRRFGM*

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.80732532029307 (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)

chr15:55759193T>CN/A show variant in all transcripts IGV

HGNC symbol

DNAAF4

Ensembl transcript ID

ENST00000380679

Genbank transcript ID

NM_001033560

UniProt peptide

Q8WXU2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.572A>G
cDNA.940A>G
g.41240A>G

AA changes

E191G Score: 98 explain score(s)

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

191

frameshift

known variant

Reference ID: rs600753

database	homozygous (C/C)	heterozygous	allele carriers
1000G	767	1112	1879
ExAC	17585	-2403	15182

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.139	0.497
	1.453	0.86
(flanking)	1.699	0.939

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 gained	41239	0.55	mu: AAGAAGGAAGAAAAA	GAAG\|gaag
Donor gained	41234	0.57	mu: AATTAAAGAAGGAAG	TTAA\|agaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

191

mutated

not conserved

191

Ptroglodytes

all identical

ENSPTRG00000007098

191

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000092192

191

Ggallus

all conserved

ENSGALG00000004387

191

IPH

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000007792

190

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000007369

188

protein features

start (aa)	end (aa)	feature	details
290	323	REPEAT	TPR 1.	might get lost (downstream of altered splice site)
324	357	REPEAT	TPR 2.	might get lost (downstream of altered splice site)
366	399	REPEAT	TPR 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1146 / 1146

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

382 / 382

position of stopcodon in wt / mu cDNA

1514 / 1514

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

369 / 369

chromosome

strand

-1

last intron/exon boundary

1416

theoretical NMD boundary in CDS

997

length of CDS

1146

coding sequence (CDS) position

572

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

940

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

41240

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

55759193

original gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered gDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

original cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGAAAGAAAAAAAATAAAATATA

altered cDNA sequence snippet

AGAAAAGCAAATTAAAGAAGGAAGAAAAAAAATAAAATATA

wildtype AA sequence

mutated AA sequence

MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE AFLYAPIDDE
SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR EKSILQAQER AKEATEAKAA
AKREDQKYAL SVMMKIEEEE RKKIEDMKEN ERIKATKALE AWKEYQRKAE EQKKIQREEK
LCQKEKQIKE GRKKIKYKSL TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI
NFTPRVFPTA LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKE FCSLEGIECQ
ASEPKLSHHI PSDLHVYIQM A*

speed

1.03 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

mutation t@sting

Prediction

polymorphism

Problems