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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000405731
Querying Taster for transcript #2: ENST00000335965
Querying Taster for transcript #3: ENST00000396709
Querying Taster for transcript #4: ENST00000396706
Querying Taster for transcript #5: ENST00000396713
Querying Taster for transcript #6: ENST00000396707
MT speed 0 s - this script 5.133231 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZDHHC4	polymorphism_automatic	1.83497661510046e-12	simple_aae				V53M	single base exchange	rs11559146		show file
ZDHHC4	polymorphism_automatic	1.83497661510046e-12	simple_aae				V53M	single base exchange	rs11559146		show file
ZDHHC4	polymorphism_automatic	1.83497661510046e-12	simple_aae				V53M	single base exchange	rs11559146		show file
ZDHHC4	polymorphism_automatic	1.83497661510046e-12	simple_aae				V53M	single base exchange	rs11559146		show file
ZDHHC4	polymorphism_automatic	1.83497661510046e-12	simple_aae				V53M	single base exchange	rs11559146		show file
ZDHHC4	polymorphism_automatic	1.83497661510046e-12	simple_aae				V53M	single base exchange	rs11559146		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998165 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:6621277G>AN/A show variant in all transcripts IGV

HGNC symbol

ZDHHC4

Ensembl transcript ID

ENST00000405731

Genbank transcript ID

NM_018106

UniProt peptide

Q9NPG8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.157G>A
cDNA.449G>A
g.4213G>A

AA changes

V53M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs11559146

database	homozygous (A/A)	heterozygous	allele carriers
1000G	281	1071	1352
ExAC	6354	20059	26413

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.382	0.015
	-1.619	0
(flanking)	0.661	0.001

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 marginally increased	4209	wt: 0.9770 / mu: 0.9979 (marginal change - not scored)	wt: CAGAGAGCCGTGCAT mu: CAGAGAGCCATGCAT	GAGA\|gccg
Donor marginally increased	4205	wt: 0.8148 / mu: 0.8475 (marginal change - not scored)	wt: TCTTCAGAGAGCCGT mu: TCTTCAGAGAGCCAT	TTCA\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000018915

Mmulatta

all conserved

ENSMMUG00000015545

Fcatus

no alignment

ENSFCAG00000008337

n/a

Mmusculus

all identical

ENSMUSG00000001844

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016903

Drerio

not conserved

ENSDARG00000045159

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000016089

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1035 / 1035

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

345 / 345

position of stopcodon in wt / mu cDNA

1327 / 1327

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

293 / 293

chromosome

strand

last intron/exon boundary

1034

theoretical NMD boundary in CDS

691

length of CDS

1035

coding sequence (CDS) position

157

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

449

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

4213

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

6621277

original gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

original cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

wildtype AA sequence

MDFLVLFLFY LASVLMGLVL ICVCSKTHSL KGLARGGAQI FSCIIPECLQ RAVHGLLHYL
FHTRNHTFIV LHLVLQGMVY TEYTWEVFGY CQELELSLHY LLLPYLLLGV NLFFFTLTCG
TNPGIITKAN ELLFLHVYEF DEVMFPKNVR CSTCDLRKPA RSKHCSVCNW CVHRFDHHCV
WVNNCIGAWN IRYFLIYVLT LTASAATVAI VSTTFLVHLV VMSDLYQETY IDDLGHLHVM
DTVFLIQYLF LTFPRIVFML GFVVVLSFLL GGYLLFVLYL AATNQTTNEW YRGDWAWCQR
CPLVAWPPSA EPQVHRNIHS HGLRSNLQEI FLPAFPCHER KKQE*

mutated AA sequence

MDFLVLFLFY LASVLMGLVL ICVCSKTHSL KGLARGGAQI FSCIIPECLQ RAMHGLLHYL
FHTRNHTFIV LHLVLQGMVY TEYTWEVFGY CQELELSLHY LLLPYLLLGV NLFFFTLTCG
TNPGIITKAN ELLFLHVYEF DEVMFPKNVR CSTCDLRKPA RSKHCSVCNW CVHRFDHHCV
WVNNCIGAWN IRYFLIYVLT LTASAATVAI VSTTFLVHLV VMSDLYQETY IDDLGHLHVM
DTVFLIQYLF LTFPRIVFML GFVVVLSFLL GGYLLFVLYL AATNQTTNEW YRGDWAWCQR
CPLVAWPPSA EPQVHRNIHS HGLRSNLQEI FLPAFPCHER KKQE*

speed

0.82 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: 0.999999999998165 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:6621277G>AN/A show variant in all transcripts IGV

HGNC symbol

ZDHHC4

Ensembl transcript ID

ENST00000335965

Genbank transcript ID

N/A

UniProt peptide

Q9NPG8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.157G>A
cDNA.365G>A
g.4213G>A

AA changes

V53M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs11559146

database	homozygous (A/A)	heterozygous	allele carriers
1000G	281	1071	1352
ExAC	6354	20059	26413

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.382	0.015
	-1.619	0
(flanking)	0.661	0.001

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 marginally increased	4209	wt: 0.9770 / mu: 0.9979 (marginal change - not scored)	wt: CAGAGAGCCGTGCAT mu: CAGAGAGCCATGCAT	GAGA\|gccg
Donor marginally increased	4205	wt: 0.8148 / mu: 0.8475 (marginal change - not scored)	wt: TCTTCAGAGAGCCGT mu: TCTTCAGAGAGCCAT	TTCA\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000018915

Mmulatta

all conserved

ENSMMUG00000015545

Fcatus

no alignment

ENSFCAG00000008337

n/a

Mmusculus

all identical

ENSMUSG00000001844

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016903

Drerio

not conserved

ENSDARG00000045159

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000016089

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1035 / 1035

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

345 / 345

position of stopcodon in wt / mu cDNA

1243 / 1243

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

209 / 209

chromosome

strand

last intron/exon boundary

950

theoretical NMD boundary in CDS

691

length of CDS

1035

coding sequence (CDS) position

157

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

365

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

4213

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

6621277

original gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

original cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

wildtype AA sequence

mutated AA sequence

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998165 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:6621277G>AN/A show variant in all transcripts IGV

HGNC symbol

ZDHHC4

Ensembl transcript ID

ENST00000396709

Genbank transcript ID

N/A

UniProt peptide

Q9NPG8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.157G>A
cDNA.598G>A
g.4213G>A

AA changes

V53M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs11559146

database	homozygous (A/A)	heterozygous	allele carriers
1000G	281	1071	1352
ExAC	6354	20059	26413

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.382	0.015
	-1.619	0
(flanking)	0.661	0.001

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 marginally increased	4209	wt: 0.9770 / mu: 0.9979 (marginal change - not scored)	wt: CAGAGAGCCGTGCAT mu: CAGAGAGCCATGCAT	GAGA\|gccg
Donor marginally increased	4205	wt: 0.8148 / mu: 0.8475 (marginal change - not scored)	wt: TCTTCAGAGAGCCGT mu: TCTTCAGAGAGCCAT	TTCA\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000018915

Mmulatta

all conserved

ENSMMUG00000015545

Fcatus

no alignment

ENSFCAG00000008337

n/a

Mmusculus

all identical

ENSMUSG00000001844

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016903

Drerio

not conserved

ENSDARG00000045159

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000016089

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1035 / 1035

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

345 / 345

position of stopcodon in wt / mu cDNA

1476 / 1476

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

442 / 442

chromosome

strand

last intron/exon boundary

1183

theoretical NMD boundary in CDS

691

length of CDS

1035

coding sequence (CDS) position

157

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

598

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

4213

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

6621277

original gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

original cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

wildtype AA sequence

mutated AA sequence

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998165 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:6621277G>AN/A show variant in all transcripts IGV

HGNC symbol

ZDHHC4

Ensembl transcript ID

ENST00000396706

Genbank transcript ID

N/A

UniProt peptide

Q9NPG8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.157G>A
cDNA.600G>A
g.4213G>A

AA changes

V53M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs11559146

database	homozygous (A/A)	heterozygous	allele carriers
1000G	281	1071	1352
ExAC	6354	20059	26413

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.382	0.015
	-1.619	0
(flanking)	0.661	0.001

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 marginally increased	4209	wt: 0.9770 / mu: 0.9979 (marginal change - not scored)	wt: CAGAGAGCCGTGCAT mu: CAGAGAGCCATGCAT	GAGA\|gccg
Donor marginally increased	4205	wt: 0.8148 / mu: 0.8475 (marginal change - not scored)	wt: TCTTCAGAGAGCCGT mu: TCTTCAGAGAGCCAT	TTCA\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000018915

Mmulatta

all conserved

ENSMMUG00000015545

Fcatus

no alignment

ENSFCAG00000008337

n/a

Mmusculus

all identical

ENSMUSG00000001844

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016903

Drerio

not conserved

ENSDARG00000045159

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000016089

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1035 / 1035

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

345 / 345

position of stopcodon in wt / mu cDNA

1478 / 1478

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

444 / 444

chromosome

strand

last intron/exon boundary

1185

theoretical NMD boundary in CDS

691

length of CDS

1035

coding sequence (CDS) position

157

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

600

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

4213

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

6621277

original gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

original cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

wildtype AA sequence

mutated AA sequence

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998165 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:6621277G>AN/A show variant in all transcripts IGV

HGNC symbol

ZDHHC4

Ensembl transcript ID

ENST00000396713

Genbank transcript ID

NM_001134387

UniProt peptide

Q9NPG8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.157G>A
cDNA.606G>A
g.4213G>A

AA changes

V53M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs11559146

database	homozygous (A/A)	heterozygous	allele carriers
1000G	281	1071	1352
ExAC	6354	20059	26413

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.382	0.015
	-1.619	0
(flanking)	0.661	0.001

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 marginally increased	4209	wt: 0.9770 / mu: 0.9979 (marginal change - not scored)	wt: CAGAGAGCCGTGCAT mu: CAGAGAGCCATGCAT	GAGA\|gccg
Donor marginally increased	4205	wt: 0.8148 / mu: 0.8475 (marginal change - not scored)	wt: TCTTCAGAGAGCCGT mu: TCTTCAGAGAGCCAT	TTCA\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000018915

Mmulatta

all conserved

ENSMMUG00000015545

Fcatus

no alignment

ENSFCAG00000008337

n/a

Mmusculus

all identical

ENSMUSG00000001844

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016903

Drerio

not conserved

ENSDARG00000045159

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000016089

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1035 / 1035

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

345 / 345

position of stopcodon in wt / mu cDNA

1484 / 1484

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

450 / 450

chromosome

strand

last intron/exon boundary

1191

theoretical NMD boundary in CDS

691

length of CDS

1035

coding sequence (CDS) position

157

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

606

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

4213

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

6621277

original gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

original cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

wildtype AA sequence

mutated AA sequence

speed

0.88 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998165 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:6621277G>AN/A show variant in all transcripts IGV

HGNC symbol

ZDHHC4

Ensembl transcript ID

ENST00000396707

Genbank transcript ID

NM_001134388

UniProt peptide

Q9NPG8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.157G>A
cDNA.515G>A
g.4213G>A

AA changes

V53M Score: 21 explain score(s)

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

frameshift

known variant

Reference ID: rs11559146

database	homozygous (A/A)	heterozygous	allele carriers
1000G	281	1071	1352
ExAC	6354	20059	26413

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.382	0.015
	-1.619	0
(flanking)	0.661	0.001

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 marginally increased	4209	wt: 0.9770 / mu: 0.9979 (marginal change - not scored)	wt: CAGAGAGCCGTGCAT mu: CAGAGAGCCATGCAT	GAGA\|gccg
Donor marginally increased	4205	wt: 0.8148 / mu: 0.8475 (marginal change - not scored)	wt: TCTTCAGAGAGCCGT mu: TCTTCAGAGAGCCAT	TTCA\|gaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000018915

Mmulatta

all conserved

ENSMMUG00000015545

Fcatus

no alignment

ENSFCAG00000008337

n/a

Mmusculus

all identical

ENSMUSG00000001844

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000016903

Drerio

not conserved

ENSDARG00000045159

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000016089

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1035 / 1035

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

345 / 345

position of stopcodon in wt / mu cDNA

1393 / 1393

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

1100

theoretical NMD boundary in CDS

691

length of CDS

1035

coding sequence (CDS) position

157

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

515

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

4213

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

6621277

original gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered gDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

original cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCGTGCATGGATTGCTTCATTAC

altered cDNA sequence snippet

CAGAATGTCTTCAGAGAGCCATGCATGGATTGCTTCATTAC

wildtype AA sequence

mutated AA sequence

speed

0.77 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

mutation t@sting

Prediction

polymorphism

Problems