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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000367055
Querying Taster for transcript #2: ENST00000538183
Querying Taster for transcript #3: ENST00000367054
Querying Taster for transcript #4: ENST00000546087
Querying Taster for transcript #5: ENST00000444946
Querying Taster for transcript #6: ENST00000337404
Querying Taster for transcript #7: ENST00000452684
MT speed 0 s - this script 6.036697 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SOD2	polymorphism_automatic	8.52995452049754e-12	simple_aae				V16A	single base exchange	rs4880		show file
SOD2	polymorphism_automatic	8.52995452049754e-12	simple_aae				V16A	single base exchange	rs4880		show file
SOD2	polymorphism_automatic	8.52995452049754e-12	simple_aae				V16A	single base exchange	rs4880		show file
SOD2	polymorphism_automatic	8.52995452049754e-12	simple_aae				V16A	single base exchange	rs4880		show file
SOD2	polymorphism_automatic	8.52995452049754e-12	simple_aae				V16A	single base exchange	rs4880		show file
SOD2	polymorphism_automatic	1.79529724420036e-11	simple_aae				V16A	single base exchange	rs4880		show file
SOD2	polymorphism_automatic	0.187842369271204	without_aae					single base exchange	rs4880		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999147 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM962694)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:160113872A>GN/A show variant in all transcripts IGV

HGNC symbol

SOD2

Ensembl transcript ID

ENST00000367055

Genbank transcript ID

NM_001024465

UniProt peptide

P04179

alteration type

single base exchange

alteration region

CDS

DNA changes

c.47T>C
cDNA.114T>C
g.69690T>C

AA changes

V16A Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs4880

database	homozygous (G/G)	heterozygous	allele carriers
1000G	488	1081	1569
ExAC	13790	5187	18977

known disease mutation at this position, please check HGMD for details (HGMD ID CM962694)

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Cmyc, Transcription Factor, Cmyc TF binding
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.635	0.046
	1.137	0.055
(flanking)	1.783	0.036

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000018757

Mmulatta

no alignment

ENSMMUG00000005885

n/a

Fcatus

not conserved

ENSFCAG00000002843

Mmusculus

all identical

ENSMUSG00000006818

Ggallus

not conserved

ENSGALG00000011661

Trubripes

no alignment

ENSTRUG00000005242

n/a

Drerio

all conserved

ENSDARG00000042644

Dmelanogaster

no alignment

FBgn0010213

n/a

Celegans

all identical

C08A9.1

Xtropicalis

not conserved

ENSXETG00000021180

protein features

start (aa)	end (aa)	feature	details
1	24	TRANSIT	Mitochondrion.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

669 / 669

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

223 / 223

position of stopcodon in wt / mu cDNA

736 / 736

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

68 / 68

chromosome

strand

-1

last intron/exon boundary

756

theoretical NMD boundary in CDS

638

length of CDS

669

coding sequence (CDS) position

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

114

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

69690

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

160113872

original gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

original cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

wildtype AA sequence

MLSRAVCGTS RQLAPVLGYL GSRQKHSLPD LPYDYGALEP HINAQIMQLH HSKHHAAYVN
NLNVTEEKYQ EALAKGDVTA QIALQPALKF NGGGHINHSI FWTNLSPNGG GEPKGELLEA
IKRDFGSFDK FKEKLTAASV GVQGSGWGWL GFNKERGHLQ IAACPNQDPL QGTTGLIPLL
GIDVWEHAYY LQYKNVRPDY LKAIWNVINW ENVTERYMAC KK*

mutated AA sequence

MLSRAVCGTS RQLAPALGYL GSRQKHSLPD LPYDYGALEP HINAQIMQLH HSKHHAAYVN
NLNVTEEKYQ EALAKGDVTA QIALQPALKF NGGGHINHSI FWTNLSPNGG GEPKGELLEA
IKRDFGSFDK FKEKLTAASV GVQGSGWGWL GFNKERGHLQ IAACPNQDPL QGTTGLIPLL
GIDVWEHAYY LQYKNVRPDY LKAIWNVINW ENVTERYMAC KK*

speed

0.69 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: 0.99999999999147 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM962694)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:160113872A>GN/A show variant in all transcripts IGV

HGNC symbol

SOD2

Ensembl transcript ID

ENST00000538183

Genbank transcript ID

NM_000636

UniProt peptide

P04179

alteration type

single base exchange

alteration region

CDS

DNA changes

c.47T>C
cDNA.208T>C
g.69690T>C

AA changes

V16A Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs4880

database	homozygous (G/G)	heterozygous	allele carriers
1000G	488	1081	1569
ExAC	13790	5187	18977

known disease mutation at this position, please check HGMD for details (HGMD ID CM962694)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.635	0.046
	1.137	0.055
(flanking)	1.783	0.036

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000018757

Mmulatta

no alignment

ENSMMUG00000005885

n/a

Fcatus

not conserved

ENSFCAG00000002843

Mmusculus

all identical

ENSMUSG00000006818

Ggallus

not conserved

ENSGALG00000011661

Trubripes

no alignment

ENSTRUG00000005242

n/a

Drerio

all conserved

ENSDARG00000042644

Dmelanogaster

no alignment

FBgn0010213

n/a

Celegans

all identical

C08A9.1

Xtropicalis

not conserved

ENSXETG00000021180

protein features

start (aa)	end (aa)	feature	details
1	24	TRANSIT	Mitochondrion.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

669 / 669

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

223 / 223

position of stopcodon in wt / mu cDNA

830 / 830

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

162 / 162

chromosome

strand

-1

last intron/exon boundary

685

theoretical NMD boundary in CDS

473

length of CDS

669

coding sequence (CDS) position

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

208

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

69690

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

160113872

original gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

original cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

wildtype AA sequence

mutated AA sequence

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999147 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM962694)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:160113872A>GN/A show variant in all transcripts IGV

HGNC symbol

SOD2

Ensembl transcript ID

ENST00000367054

Genbank transcript ID

NM_001024466

UniProt peptide

P04179

alteration type

single base exchange

alteration region

CDS

DNA changes

c.47T>C
cDNA.108T>C
g.69690T>C

AA changes

V16A Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs4880

database	homozygous (G/G)	heterozygous	allele carriers
1000G	488	1081	1569
ExAC	13790	5187	18977

known disease mutation at this position, please check HGMD for details (HGMD ID CM962694)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.635	0.046
	1.137	0.055
(flanking)	1.783	0.036

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000018757

Mmulatta

no alignment

ENSMMUG00000005885

n/a

Fcatus

not conserved

ENSFCAG00000002843

Mmusculus

all identical

ENSMUSG00000006818

Ggallus

not conserved

ENSGALG00000011661

Trubripes

no alignment

ENSTRUG00000005242

n/a

Drerio

all conserved

ENSDARG00000042644

Dmelanogaster

no alignment

FBgn0010213

n/a

Celegans

all identical

C08A9.1

Xtropicalis

not conserved

ENSXETG00000021180

protein features

start (aa)	end (aa)	feature	details
1	24	TRANSIT	Mitochondrion.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

552 / 552

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

184 / 184

position of stopcodon in wt / mu cDNA

613 / 613

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

62 / 62

chromosome

strand

-1

last intron/exon boundary

633

theoretical NMD boundary in CDS

521

length of CDS

552

coding sequence (CDS) position

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

108

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

69690

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

160113872

original gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

original cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

wildtype AA sequence

MLSRAVCGTS RQLAPVLGYL GSRQKHSLPD LPYDYGALEP HINAQIMQLH HSKHHAAYVN
NLNVTEEKYQ EALAKGELLE AIKRDFGSFD KFKEKLTAAS VGVQGSGWGW LGFNKERGHL
QIAACPNQDP LQGTTGLIPL LGIDVWEHAY YLQYKNVRPD YLKAIWNVIN WENVTERYMA
CKK*

mutated AA sequence

MLSRAVCGTS RQLAPALGYL GSRQKHSLPD LPYDYGALEP HINAQIMQLH HSKHHAAYVN
NLNVTEEKYQ EALAKGELLE AIKRDFGSFD KFKEKLTAAS VGVQGSGWGW LGFNKERGHL
QIAACPNQDP LQGTTGLIPL LGIDVWEHAY YLQYKNVRPD YLKAIWNVIN WENVTERYMA
CKK*

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999147 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM962694)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:160113872A>GN/A show variant in all transcripts IGV

HGNC symbol

SOD2

Ensembl transcript ID

ENST00000337404

Genbank transcript ID

N/A

UniProt peptide

P04179

alteration type

single base exchange

alteration region

CDS

DNA changes

c.47T>C
cDNA.158T>C
g.69690T>C

AA changes

V16A Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs4880

database	homozygous (G/G)	heterozygous	allele carriers
1000G	488	1081	1569
ExAC	13790	5187	18977

known disease mutation at this position, please check HGMD for details (HGMD ID CM962694)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.635	0.046
	1.137	0.055
(flanking)	1.783	0.036

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000018757

Mmulatta

no alignment

ENSMMUG00000005885

n/a

Fcatus

not conserved

ENSFCAG00000002843

Mmusculus

all identical

ENSMUSG00000006818

Ggallus

not conserved

ENSGALG00000011661

Trubripes

no alignment

ENSTRUG00000005242

n/a

Drerio

all conserved

ENSDARG00000042644

Dmelanogaster

no alignment

FBgn0010213

n/a

Celegans

all identical

C08A9.1

Xtropicalis

not conserved

ENSXETG00000021180

protein features

start (aa)	end (aa)	feature	details
1	24	TRANSIT	Mitochondrion.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

552 / 552

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

184 / 184

position of stopcodon in wt / mu cDNA

663 / 663

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

112 / 112

chromosome

strand

-1

last intron/exon boundary

518

theoretical NMD boundary in CDS

356

length of CDS

552

coding sequence (CDS) position

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

158

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

69690

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

160113872

original gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

original cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

wildtype AA sequence

mutated AA sequence

speed

0.94 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999147 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM962694)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:160113872A>GN/A show variant in all transcripts IGV

HGNC symbol

SOD2

Ensembl transcript ID

ENST00000452684

Genbank transcript ID

N/A

UniProt peptide

P04179

alteration type

single base exchange

alteration region

CDS

DNA changes

c.47T>C
cDNA.124T>C
g.69690T>C

AA changes

V16A Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs4880

database	homozygous (G/G)	heterozygous	allele carriers
1000G	488	1081	1569
ExAC	13790	5187	18977

known disease mutation at this position, please check HGMD for details (HGMD ID CM962694)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.635	0.046
	1.137	0.055
(flanking)	1.783	0.036

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000018757

Mmulatta

no alignment

ENSMMUG00000005885

n/a

Fcatus

not conserved

ENSFCAG00000002843

Mmusculus

all identical

ENSMUSG00000006818

Ggallus

not conserved

ENSGALG00000011661

Trubripes

no alignment

ENSTRUG00000005242

n/a

Drerio

all conserved

ENSDARG00000042644

Dmelanogaster

no alignment

FBgn0010213

n/a

Celegans

all identical

C08A9.1

Xtropicalis

not conserved

ENSXETG00000021180

protein features

start (aa)	end (aa)	feature	details
1	24	TRANSIT	Mitochondrion.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

423 / 423

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

141 / 141

position of stopcodon in wt / mu cDNA

500 / 500

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

78 / 78

chromosome

strand

-1

last intron/exon boundary

101

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

423

coding sequence (CDS) position

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

124

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

69690

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

160113872

original gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

original cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

wildtype AA sequence

MLSRAVCGTS RQLAPVLGYL GSRQKHSLPD LPYDYGALEP HINAQIMQLH HSKHHAAYVN
NLNVTEEKYQ EALAKGRFQA ERREAVPGRG DPREPGPIRT GLSVEENSLR ICTGSEFSRH
DSLSFKHMVY LIVEGVPRWV *

mutated AA sequence

MLSRAVCGTS RQLAPALGYL GSRQKHSLPD LPYDYGALEP HINAQIMQLH HSKHHAAYVN
NLNVTEEKYQ EALAKGRFQA ERREAVPGRG DPREPGPIRT GLSVEENSLR ICTGSEFSRH
DSLSFKHMVY LIVEGVPRWV *

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999982047 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM962694)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:160113872A>GN/A show variant in all transcripts IGV

HGNC symbol

SOD2

Ensembl transcript ID

ENST00000444946

Genbank transcript ID

N/A

UniProt peptide

P04179

alteration type

single base exchange

alteration region

CDS

DNA changes

c.47T>C
cDNA.121T>C
g.69690T>C

AA changes

V16A Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs4880

database	homozygous (G/G)	heterozygous	allele carriers
1000G	488	1081	1569
ExAC	13790	5187	18977

known disease mutation at this position, please check HGMD for details (HGMD ID CM962694)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.635	0.046
	1.137	0.055
(flanking)	1.783	0.036

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000018757

Mmulatta

no alignment

ENSMMUG00000005885

n/a

Fcatus

not conserved

ENSFCAG00000002843

Mmusculus

all identical

ENSMUSG00000006818

Ggallus

not conserved

ENSGALG00000011661

Trubripes

no alignment

ENSTRUG00000005242

n/a

Drerio

all conserved

ENSDARG00000042644

Dmelanogaster

not conserved

FBgn0010213

Celegans

all identical

C08A9.1

Xtropicalis

not conserved

ENSXETG00000021180

protein features

start (aa)	end (aa)	feature	details
1	24	TRANSIT	Mitochondrion.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

489 / 489

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

163 / 163

position of stopcodon in wt / mu cDNA

563 / 563

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

75 / 75

chromosome

strand

-1

last intron/exon boundary

418

theoretical NMD boundary in CDS

293

length of CDS

489

coding sequence (CDS) position

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

121

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

69690

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

160113872

original gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

original cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

wildtype AA sequence

MLSRAVCGTS RQLAPVLGYL GSRQKHSLPD LPYDYGALEP HINAQIMQLH HSKHHAAYVN
NLNVTEEKYQ EALAKGDVTA QIALQPALKF NGGGHINHSI FWTNLSPNGG GEPKGLIPLL
GIDVWEHAYY LQYKNVRPDY LKAIWNVINW ENVTERYMAC KK*

mutated AA sequence

MLSRAVCGTS RQLAPALGYL GSRQKHSLPD LPYDYGALEP HINAQIMQLH HSKHHAAYVN
NLNVTEEKYQ EALAKGDVTA QIALQPALKF NGGGHINHSI FWTNLSPNGG GEPKGLIPLL
GIDVWEHAYY LQYKNVRPDY LKAIWNVINW ENVTERYMAC KK*

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.812157630728796 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM962694)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:160113872A>GN/A show variant in all transcripts IGV

HGNC symbol

SOD2

Ensembl transcript ID

ENST00000546087

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.1737T>C
g.69690T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4880

database	homozygous (G/G)	heterozygous	allele carriers
1000G	488	1081	1569
ExAC	13790	5187	18977

known disease mutation at this position, please check HGMD for details (HGMD ID CM962694)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.635	0.046
	1.137	0.055
(flanking)	1.783	0.036

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

1829 / 1829

chromosome

strand

-1

last intron/exon boundary

2379

theoretical NMD boundary in CDS

500

length of CDS

531

coding sequence (CDS) position

N/A

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

1737

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

69690

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

160113872

original gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered gDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

original cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA

altered cDNA sequence snippet

CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA

wildtype AA sequence

MQLHHSKHHA AYVNNLNVTE EKYQEALAKG DVTAQIALQP ALKFNGGGHI NHSIFWTNLS
PNGGGEPKGE LLEAIKRDFG SFDKFKEKLT AASVGVQGSG WGWLGFNKER GHLQIAACPN
QDPLQGTTGL IPLLGIDVWE HAYYLQYKNV RPDYLKAIWN VINWENVTER YMACKK*

mutated AA sequence

N/A

speed

0.74 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

mutation t@sting

Prediction

polymorphism

Problems