MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000476257
Querying Taster for transcript #2: ENST00000461846
Querying Taster for transcript #3: ENST00000471111
Querying Taster for transcript #4: ENST00000264677
MT speed 0 s - this script 5.56391 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SERPINI2	polymorphism_automatic	0.00387912227065201	simple_aae				E148G	single base exchange	rs9841174		show file
SERPINI2	polymorphism_automatic	0.00387912227065201	simple_aae				E148G	single base exchange	rs9841174		show file
SERPINI2	polymorphism_automatic	0.00387912227065201	simple_aae				E148G	single base exchange	rs9841174		show file
SERPINI2	polymorphism_automatic	0.00387912227065201	simple_aae				E148G	single base exchange	rs9841174		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.996120877729348 (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)

chr3:167184878T>CN/A show variant in all transcripts IGV

HGNC symbol

SERPINI2

Ensembl transcript ID

ENST00000476257

Genbank transcript ID

NM_006217

UniProt peptide

O75830

alteration type

single base exchange

alteration region

CDS

DNA changes

c.443A>G
cDNA.742A>G
g.11915A>G

AA changes

E148G Score: 98 explain score(s)

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

148

frameshift

known variant

Reference ID: rs9841174

database	homozygous (C/C)	heterozygous	allele carriers
1000G	429	1208	1637
ExAC	9547	13673	23220

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.833	0.926
	1.454	0.991
(flanking)	1.272	0.998

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

148

mutated

not conserved

148

Ptroglodytes

not conserved

ENSPTRG00000015596

148

Mmulatta

all identical

ENSMMUG00000009446

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034139

148

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0028990

199

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000022877

154

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1218 / 1218

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

406 / 406

position of stopcodon in wt / mu cDNA

1517 / 1517

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

300 / 300

chromosome

strand

-1

last intron/exon boundary

1441

theoretical NMD boundary in CDS

1091

length of CDS

1218

coding sequence (CDS) position

443

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

742

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

11915

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

167184878

original gDNA sequence snippet

AGATGCAAAGGCTTGTGCAGAGATGATAAGTACCTGGGTAG

altered gDNA sequence snippet

AGATGCAAAGGCTTGTGCAGGGATGATAAGTACCTGGGTAG

original cDNA sequence snippet

AGATGCAAAGGCTTGTGCAGAGATGATAAGTACCTGGGTAG

altered cDNA sequence snippet

AGATGCAAAGGCTTGTGCAGGGATGATAAGTACCTGGGTAG

wildtype AA sequence

MDTIFLWSLL LLFFGSQASR CSAQKNTEFA VDLYQEVSLS HKDNIIFSPL GITLVLEMVQ
LGAKGKAQQQ IRQTLKQQET SAGEEFFVLK SFFSAISEKK QEFTFNLANA LYLQEGFTVK
EQYLHGNKEF FQSAIKLVDF QDAKACAEMI STWVERKTDG KIKDMFSGEE FGPLTRLVLV
NAIYFKGDWK QKFRKEDTQL INFTKKNGST VKIPMMKALL RTKYGYFSES SLNYQVLELS
YKGDEFSLII ILPAEGMDIE EVEKLITAQQ ILKWLSEMQE EEVEISLPRF KVEQKVDFKD
VLYSLNITEI FSGGCDLSGI TDSSEVYVSQ VTQKVFFEIN EDGSEAATST GIHIPVIMSL
AQSQFIANHP FLFIMKHNPT ESILFMGRVT NPDTQEIKGR DLDSL*

mutated AA sequence

MDTIFLWSLL LLFFGSQASR CSAQKNTEFA VDLYQEVSLS HKDNIIFSPL GITLVLEMVQ
LGAKGKAQQQ IRQTLKQQET SAGEEFFVLK SFFSAISEKK QEFTFNLANA LYLQEGFTVK
EQYLHGNKEF FQSAIKLVDF QDAKACAGMI STWVERKTDG KIKDMFSGEE FGPLTRLVLV
NAIYFKGDWK QKFRKEDTQL INFTKKNGST VKIPMMKALL RTKYGYFSES SLNYQVLELS
YKGDEFSLII ILPAEGMDIE EVEKLITAQQ ILKWLSEMQE EEVEISLPRF KVEQKVDFKD
VLYSLNITEI FSGGCDLSGI TDSSEVYVSQ VTQKVFFEIN EDGSEAATST GIHIPVIMSL
AQSQFIANHP FLFIMKHNPT ESILFMGRVT NPDTQEIKGR DLDSL*

speed

1.19 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: 0.996120877729348 (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)

chr3:167184878T>CN/A show variant in all transcripts IGV

HGNC symbol

SERPINI2

Ensembl transcript ID

ENST00000461846

Genbank transcript ID

N/A

UniProt peptide

O75830

alteration type

single base exchange

alteration region

CDS

DNA changes

c.443A>G
cDNA.544A>G
g.11915A>G

AA changes

E148G Score: 98 explain score(s)

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

148

frameshift

known variant

Reference ID: rs9841174

database	homozygous (C/C)	heterozygous	allele carriers
1000G	429	1208	1637
ExAC	9547	13673	23220

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.833	0.926
	1.454	0.991
(flanking)	1.272	0.998

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

148

mutated

not conserved

148

Ptroglodytes

not conserved

ENSPTRG00000015596

148

Mmulatta

all identical

ENSMMUG00000009446

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034139

148

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0028990

199

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000022877

154

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1218 / 1218

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

406 / 406

position of stopcodon in wt / mu cDNA

1319 / 1319

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

102 / 102

chromosome

strand

-1

last intron/exon boundary

1243

theoretical NMD boundary in CDS

1091

length of CDS

1218

coding sequence (CDS) position

443

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

544

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

11915

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

167184878

original gDNA sequence snippet

AGATGCAAAGGCTTGTGCAGAGATGATAAGTACCTGGGTAG

altered gDNA sequence snippet

AGATGCAAAGGCTTGTGCAGGGATGATAAGTACCTGGGTAG

original cDNA sequence snippet

AGATGCAAAGGCTTGTGCAGAGATGATAAGTACCTGGGTAG

altered cDNA sequence snippet

AGATGCAAAGGCTTGTGCAGGGATGATAAGTACCTGGGTAG

wildtype AA sequence

mutated AA sequence

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.996120877729348 (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)

chr3:167184878T>CN/A show variant in all transcripts IGV

HGNC symbol

SERPINI2

Ensembl transcript ID

ENST00000471111

Genbank transcript ID

N/A

UniProt peptide

O75830

alteration type

single base exchange

alteration region

CDS

DNA changes

c.443A>G
cDNA.512A>G
g.11915A>G

AA changes

E148G Score: 98 explain score(s)

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

148

frameshift

known variant

Reference ID: rs9841174

database	homozygous (C/C)	heterozygous	allele carriers
1000G	429	1208	1637
ExAC	9547	13673	23220

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.833	0.926
	1.454	0.991
(flanking)	1.272	0.998

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

148

mutated

not conserved

148

Ptroglodytes

not conserved

ENSPTRG00000015596

148

Mmulatta

all identical

ENSMMUG00000009446

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034139

148

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0028990

199

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000022877

154

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1218 / 1218

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

406 / 406

position of stopcodon in wt / mu cDNA

1287 / 1287

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

70 / 70

chromosome

strand

-1

last intron/exon boundary

1211

theoretical NMD boundary in CDS

1091

length of CDS

1218

coding sequence (CDS) position

443

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

512

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

11915

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

167184878

original gDNA sequence snippet

AGATGCAAAGGCTTGTGCAGAGATGATAAGTACCTGGGTAG

altered gDNA sequence snippet

AGATGCAAAGGCTTGTGCAGGGATGATAAGTACCTGGGTAG

original cDNA sequence snippet

AGATGCAAAGGCTTGTGCAGAGATGATAAGTACCTGGGTAG

altered cDNA sequence snippet

AGATGCAAAGGCTTGTGCAGGGATGATAAGTACCTGGGTAG

wildtype AA sequence

mutated AA sequence

speed

1.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.996120877729348 (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)

chr3:167184878T>CN/A show variant in all transcripts IGV

HGNC symbol

SERPINI2

Ensembl transcript ID

ENST00000264677

Genbank transcript ID

N/A

UniProt peptide

O75830

alteration type

single base exchange

alteration region

CDS

DNA changes

c.443A>G
cDNA.481A>G
g.11915A>G

AA changes

E148G Score: 98 explain score(s)

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

148

frameshift

known variant

Reference ID: rs9841174

database	homozygous (C/C)	heterozygous	allele carriers
1000G	429	1208	1637
ExAC	9547	13673	23220

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.833	0.926
	1.454	0.991
(flanking)	1.272	0.998

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

148

mutated

not conserved

148

Ptroglodytes

not conserved

ENSPTRG00000015596

148

Mmulatta

all identical

ENSMMUG00000009446

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000034139

148

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0028990

199

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000022877

154

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1218 / 1218

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

406 / 406

position of stopcodon in wt / mu cDNA

1256 / 1256

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

39 / 39

chromosome

strand

-1

last intron/exon boundary

1180

theoretical NMD boundary in CDS

1091

length of CDS

1218

coding sequence (CDS) position

443

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

481

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

11915

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

167184878

original gDNA sequence snippet

AGATGCAAAGGCTTGTGCAGAGATGATAAGTACCTGGGTAG

altered gDNA sequence snippet

AGATGCAAAGGCTTGTGCAGGGATGATAAGTACCTGGGTAG

original cDNA sequence snippet

AGATGCAAAGGCTTGTGCAGAGATGATAAGTACCTGGGTAG

altered cDNA sequence snippet

AGATGCAAAGGCTTGTGCAGGGATGATAAGTACCTGGGTAG

wildtype AA sequence

mutated AA sequence

speed

1.20 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