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: ENST00000403729
Querying Taster for transcript #2: ENST00000404191
Querying Taster for transcript #3: ENST00000346652
Querying Taster for transcript #4: ENST00000307333
MT speed 1.88 s - this script 3.586296 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANTXR2	polymorphism_automatic	1.83277631804479e-06	simple_aae		affected		A357P	single base exchange	rs12647691		show file
ANTXR2	polymorphism_automatic	1.83277631804479e-06	simple_aae		affected		A357P	single base exchange	rs12647691		show file
ANTXR2	polymorphism_automatic	7.34881765396267e-06	simple_aae		affected		A280P	single base exchange	rs12647691		show file
ANTXR2	polymorphism_automatic	7.34881765396267e-06	simple_aae		affected		A254P	single base exchange	rs12647691		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998167223682 (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 CM121492)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:80905990C>GN/A show variant in all transcripts IGV

HGNC symbol

ANTXR2

Ensembl transcript ID

ENST00000403729

Genbank transcript ID

NM_058172

UniProt peptide

P58335

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1069G>C
cDNA.1595G>C
g.140619G>C

AA changes

A357P Score: 27 explain score(s)

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

357

frameshift

known variant

Reference ID: rs12647691

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1645	730	2375
ExAC	32664	-32561	103

known disease mutation at this position, please check HGMD for details (HGMD ID CM121492)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.779	0.611
	1.199	0.559
(flanking)	-1.739	0.318

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	140630	wt: 0.46 / mu: 0.80	wt: CCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGTGCCT mu: CCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGTGCCT	acca\|AAAG
Acc increased	140626	wt: 0.52 / mu: 0.88	wt: TCCACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGT mu: TCCACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGT	ctgc\|ACCA
Acc increased	140628	wt: 0.56 / mu: 0.90	wt: CACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGTGC mu: CACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGTGC	gcac\|CAAA
Acc increased	140624	wt: 0.31 / mu: 0.88	wt: CCTCCACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGA mu: CCTCCACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGA	ccct\|GCAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

357

mutated

not conserved

357

Ptroglodytes

not conserved

ENSPTRG00000016207

357

Mmulatta

not conserved

ENSMMUG00000003333

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000029338

357

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000060520

347

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000021531

354

DPP

protein features

start (aa)	end (aa)	feature	details
342	489	TOPO_DOM	Cytoplasmic (Potential).	lost
352	360	COMPBIAS	Poly-Pro.	lost
362	366	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1467 / 1467

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

489 / 489

position of stopcodon in wt / mu cDNA

1993 / 1993

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

527 / 527

chromosome

strand

-1

last intron/exon boundary

1955

theoretical NMD boundary in CDS

1378

length of CDS

1467

coding sequence (CDS) position

1069

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

1595

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

140619

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

80905990

original gDNA sequence snippet

AGGATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGTA

altered gDNA sequence snippet

AGGATCCTCCACCACCACCCCCCCCTGCACCAAAAGAGGTA

original cDNA sequence snippet

AGGATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGAG

altered cDNA sequence snippet

AGGATCCTCCACCACCACCCCCCCCTGCACCAAAAGAGGAG

wildtype AA sequence

MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS
GRGFMLGSRN GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK DPPPPPAPAP
KEEEEEPLPT KKWPTVDASY YGGRGVGGIK RMEVRWGDKG STEEGARLEK AKNAVVKIPE
ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG RLDALWALLR RQYDRVSLMR PQEGDEGRCI
NFSRVPSQ*

mutated AA sequence

MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS
GRGFMLGSRN GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK DPPPPPPPAP
KEEEEEPLPT KKWPTVDASY YGGRGVGGIK RMEVRWGDKG STEEGARLEK AKNAVVKIPE
ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG RLDALWALLR RQYDRVSLMR PQEGDEGRCI
NFSRVPSQ*

speed

0.49 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: 0.999998167223682 (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 CM121492)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:80905990C>GN/A show variant in all transcripts IGV

HGNC symbol

ANTXR2

Ensembl transcript ID

ENST00000307333

Genbank transcript ID

NM_001145794

UniProt peptide

P58335

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1069G>C
cDNA.1072G>C
g.140619G>C

AA changes

A357P Score: 27 explain score(s)

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

357

frameshift

known variant

Reference ID: rs12647691

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1645	730	2375
ExAC	32664	-32561	103

known disease mutation at this position, please check HGMD for details (HGMD ID CM121492)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.779	0.611
	1.199	0.559
(flanking)	-1.739	0.318

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	140630	wt: 0.46 / mu: 0.80	wt: CCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGTGCCT mu: CCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGTGCCT	acca\|AAAG
Acc increased	140626	wt: 0.52 / mu: 0.88	wt: TCCACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGT mu: TCCACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGT	ctgc\|ACCA
Acc increased	140628	wt: 0.56 / mu: 0.90	wt: CACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGTGC mu: CACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGTGC	gcac\|CAAA
Acc increased	140624	wt: 0.31 / mu: 0.88	wt: CCTCCACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGA mu: CCTCCACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGA	ccct\|GCAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

357

mutated

not conserved

357

Ptroglodytes

not conserved

ENSPTRG00000016207

357

Mmulatta

not conserved

ENSMMUG00000003333

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000029338

357

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000060520

347

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000021531

354

DPP

protein features

start (aa)	end (aa)	feature	details
342	489	TOPO_DOM	Cytoplasmic (Potential).	lost
352	360	COMPBIAS	Poly-Pro.	lost
362	366	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1470 / 1470

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

490 / 490

position of stopcodon in wt / mu cDNA

1473 / 1473

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

4 / 4

chromosome

strand

-1

last intron/exon boundary

1351

theoretical NMD boundary in CDS

1297

length of CDS

1470

coding sequence (CDS) position

1069

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

1072

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

140619

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

80905990

original gDNA sequence snippet

AGGATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGTA

altered gDNA sequence snippet

AGGATCCTCCACCACCACCCCCCCCTGCACCAAAAGAGGTA

original cDNA sequence snippet

AGGATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGAG

altered cDNA sequence snippet

AGGATCCTCCACCACCACCCCCCCCTGCACCAAAAGAGGAG

wildtype AA sequence

mutated AA sequence

MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS
GRGFMLGSRN GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK DPPPPPPPAP
KEEEEEPLPT KKWPTVDASY YGGRGVGGIK RMEVRWGDKG STEEGARLEK AKNAVVKIPE
ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG RLDALWALLR RQYDRVSLMR PQEGDEVCIW
ECIEKELTA*

speed

0.44 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999992651182346 (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 CM121492)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:80905990C>GN/A show variant in all transcripts IGV

HGNC symbol

ANTXR2

Ensembl transcript ID

ENST00000404191

Genbank transcript ID

N/A

UniProt peptide

P58335

alteration type

single base exchange

alteration region

CDS

DNA changes

c.838G>C
cDNA.995G>C
g.140619G>C

AA changes

A280P Score: 27 explain score(s)

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

280

frameshift

known variant

Reference ID: rs12647691

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1645	730	2375
ExAC	32664	-32561	103

known disease mutation at this position, please check HGMD for details (HGMD ID CM121492)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.779	0.611
	1.199	0.559
(flanking)	-1.739	0.318

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	140630	wt: 0.46 / mu: 0.80	wt: CCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGTGCCT mu: CCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGTGCCT	acca\|AAAG
Acc increased	140626	wt: 0.52 / mu: 0.88	wt: TCCACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGT mu: TCCACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGT	ctgc\|ACCA
Acc increased	140628	wt: 0.56 / mu: 0.90	wt: CACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGTGC mu: CACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGTGC	gcac\|CAAA
Acc increased	140624	wt: 0.31 / mu: 0.88	wt: CCTCCACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGA mu: CCTCCACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGA	ccct\|GCAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

280

mutated

not conserved

280

Ptroglodytes

not conserved

ENSPTRG00000016207

357

Mmulatta

not conserved

ENSMMUG00000003333

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000029338

357

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000060520

347

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000021531

354

DPP

protein features

start (aa)	end (aa)	feature	details
34	318	TOPO_DOM	Extracellular (Potential).	lost
319	341	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
342	489	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
352	360	COMPBIAS	Poly-Pro.	might get lost (downstream of altered splice site)
362	366	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1236 / 1236

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

412 / 412

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

158 / 158

chromosome

strand

-1

last intron/exon boundary

1355

theoretical NMD boundary in CDS

1147

length of CDS

1236

coding sequence (CDS) position

838

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

995

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

140619

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

80905990

original gDNA sequence snippet

AGGATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGTA

altered gDNA sequence snippet

AGGATCCTCCACCACCACCCCCCCCTGCACCAAAAGAGGTA

original cDNA sequence snippet

AGGATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGAG

altered cDNA sequence snippet

AGGATCCTCCACCACCACCCCCCCCTGCACCAAAAGAGGAG

wildtype AA sequence

MRLSFIVFSS QATIILPLTG DRGKISKGLE DLKRVSPVGE TYIHEGLKLA NEQIQKAGGL
KTSSIIIALT DGKLDGLVPS YAEKEAKISR SLGASVYCVG VLDFEQAQLE RIADSKEQVF
PVKGGFQALK GIINSILAQS CTEILELQPS SVCVGEEFQI VLSGRGFMLG SRNGSVLCTY
TVNETYTTSV KPVSVQLNSM LCPAPILNKA GETLDVSVSF NGGKSVISGS LIVTATECSN
GIAAIIVILV LLLLLGIGLM WWFWPLCCKV VIKDPPPPPA PAPKEEEEEP LPTKKWPTVD
ASYYGGRGVG GIKRMEVRWG DKGSTEEGAR LEKAKNAVVK IPEETEEPIR PRPPRPKPTH
QPPQTKWYTP IKGRLDALWA LLRRQYDRVS LMRPQEGDEG RCINFSRVPS Q*

mutated AA sequence

MRLSFIVFSS QATIILPLTG DRGKISKGLE DLKRVSPVGE TYIHEGLKLA NEQIQKAGGL
KTSSIIIALT DGKLDGLVPS YAEKEAKISR SLGASVYCVG VLDFEQAQLE RIADSKEQVF
PVKGGFQALK GIINSILAQS CTEILELQPS SVCVGEEFQI VLSGRGFMLG SRNGSVLCTY
TVNETYTTSV KPVSVQLNSM LCPAPILNKA GETLDVSVSF NGGKSVISGS LIVTATECSN
GIAAIIVILV LLLLLGIGLM WWFWPLCCKV VIKDPPPPPP PAPKEEEEEP LPTKKWPTVD
ASYYGGRGVG GIKRMEVRWG DKGSTEEGAR LEKAKNAVVK IPEETEEPIR PRPPRPKPTH
QPPQTKWYTP IKGRLDALWA LLRRQYDRVS LMRPQEGDEG RCINFSRVPS Q*

speed

0.52 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999992651182346 (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 CM121492)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:80905990C>GN/A show variant in all transcripts IGV

HGNC symbol

ANTXR2

Ensembl transcript ID

ENST00000346652

Genbank transcript ID

N/A

UniProt peptide

P58335

alteration type

single base exchange

alteration region

CDS

DNA changes

c.760G>C
cDNA.900G>C
g.140619G>C

AA changes

A254P Score: 27 explain score(s)

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

254

frameshift

known variant

Reference ID: rs12647691

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1645	730	2375
ExAC	32664	-32561	103

known disease mutation at this position, please check HGMD for details (HGMD ID CM121492)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.779	0.611
	1.199	0.559
(flanking)	-1.739	0.318

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	140630	wt: 0.46 / mu: 0.80	wt: CCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGTGCCT mu: CCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGTGCCT	acca\|AAAG
Acc increased	140626	wt: 0.52 / mu: 0.88	wt: TCCACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGT mu: TCCACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGT	ctgc\|ACCA
Acc increased	140628	wt: 0.56 / mu: 0.90	wt: CACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGAGTGC mu: CACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGAGTGC	gcac\|CAAA
Acc increased	140624	wt: 0.31 / mu: 0.88	wt: CCTCCACCACCACCCGCCCCTGCACCAAAAGAGGTAAGTGA mu: CCTCCACCACCACCCCCCCCTGCACCAAAAGAGGTAAGTGA	ccct\|GCAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

254

mutated

not conserved

254

Ptroglodytes

not conserved

ENSPTRG00000016207

348

Mmulatta

not conserved

ENSMMUG00000003333

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000029338

348

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000060520

347

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000021531

354

PKP

protein features

start (aa)	end (aa)	feature	details
34	318	TOPO_DOM	Extracellular (Potential).	lost
260	260	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
319	341	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
342	489	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
352	360	COMPBIAS	Poly-Pro.	might get lost (downstream of altered splice site)
362	366	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1161 / 1161

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

387 / 387

position of stopcodon in wt / mu cDNA

1301 / 1301

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

141 / 141

chromosome

strand

-1

last intron/exon boundary

1179

theoretical NMD boundary in CDS

988

length of CDS

1161

coding sequence (CDS) position

760

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

900

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

140619

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

80905990

original gDNA sequence snippet

AGGATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGTA

altered gDNA sequence snippet

AGGATCCTCCACCACCACCCCCCCCTGCACCAAAAGAGGTA

original cDNA sequence snippet

AGGATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGAG

altered cDNA sequence snippet

AGGATCCTCCACCACCACCCCCCCCTGCACCAAAAGAGGAG

wildtype AA sequence

MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSSNGIAAII VILVLLLLLG IGLMWWFWPL
CCKVVIKDPP PPPAPAPKEE EEEPLPTKKW PTVDASYYGG RGVGGIKRME VRWGDKGSTE
EGARLEKAKN AVVKIPEETE EPIRPRPPRP KPTHQPPQTK WYTPIKGRLD ALWALLRRQY
DRVSLMRPQE GDEVCIWECI EKELTA*

mutated AA sequence

MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
FEQAQLERIA DSKEQVFPVK GGFQALKGII NSSNGIAAII VILVLLLLLG IGLMWWFWPL
CCKVVIKDPP PPPPPAPKEE EEEPLPTKKW PTVDASYYGG RGVGGIKRME VRWGDKGSTE
EGARLEKAKN AVVKIPEETE EPIRPRPPRP KPTHQPPQTK WYTPIKGRLD ALWALLRRQY
DRVSLMRPQE GDEVCIWECI EKELTA*

speed

0.43 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