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: ENST00000354989
Querying Taster for transcript #2: ENST00000360031
Querying Taster for transcript #3: ENST00000376652
Querying Taster for transcript #4: ENST00000433259
MT speed 0 s - this script 5.613087 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ENTPD6	polymorphism_automatic	3.21498383470953e-12	simple_aae		affected		S14N	single base exchange	rs2076559		show file
ENTPD6	polymorphism_automatic	3.21498383470953e-12	simple_aae		affected		S14N	single base exchange	rs2076559		show file
ENTPD6	polymorphism_automatic	3.21498383470953e-12	simple_aae		affected		S14N	single base exchange	rs2076559		show file
ENTPD6	polymorphism_automatic	1.22544859038065e-07	without_aae		affected			single base exchange	rs2076559		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996785 (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)

chr20:25187213G>AN/A show variant in all transcripts IGV

HGNC symbol

ENTPD6

Ensembl transcript ID

ENST00000360031

Genbank transcript ID

N/A

UniProt peptide

O75354

alteration type

single base exchange

alteration region

CDS

DNA changes

c.41G>A
cDNA.223G>A
g.10885G>A

AA changes

S14N Score: 46 explain score(s)

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

frameshift

known variant

Reference ID: rs2076559

database	homozygous (A/A)	heterozygous	allele carriers
1000G	313	936	1249
ExAC	6692	19383	26075

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.588	0.001
	0.004	0
(flanking)	-0.334	0

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	10877	wt: 0.9340 / mu: 0.9578 (marginal change - not scored)	wt: TCCAGAAAAACGAGC mu: TCCAGAAAAACGAAC	CAGA\|aaaa
Donor increased	10880	wt: 0.26 / mu: 0.96	wt: AGAAAAACGAGCTAC mu: AGAAAAACGAACTAC	AAAA\|acga

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

ENSPTRG00000013338

Mmulatta

all identical

ENSMMUG00000011874

Fcatus

all identical

ENSFCAG00000006392

Mmusculus

no alignment

ENSMUSG00000033068

n/a

Ggallus

no alignment

ENSGALG00000008563

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000008757

n/a

Dmelanogaster

no alignment

FBgn0024947

n/a

Celegans

no alignment

K08H10.4

n/a

Xtropicalis

no alignment

ENSXETG00000012776

n/a

protein features

start (aa)	end (aa)	feature	details
1	39	TOPO_DOM	Cytoplasmic (Potential).	lost
19	19	CONFLICT	Missing (in Ref. 6; AAH25980).	might get lost (downstream of altered splice site)
40	60	TRANSMEM	Helical; Signal-anchor for type II membrane protein; (Potential).	might get lost (downstream of altered splice site)
61	484	TOPO_DOM	Lumenal (Potential).	might get lost (downstream of altered splice site)
220	220	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	224	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
238	238	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
284	284	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
325	325	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
356	356	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
416	416	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
430	430	DISULFID	In soluble form.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1452 / 1452

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

484 / 484

position of stopcodon in wt / mu cDNA

1634 / 1634

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

183 / 183

chromosome

strand

last intron/exon boundary

1536

theoretical NMD boundary in CDS

1303

length of CDS

1452

coding sequence (CDS) position

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

223

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

10885

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

25187213

original gDNA sequence snippet

TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGGTTTGTC

altered gDNA sequence snippet

TGAAACTTCCAGAAAAACGAACTACATTTTTCAGGTTTGTC

original cDNA sequence snippet

TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGCCGCAGC

altered cDNA sequence snippet

TGAAACTTCCAGAAAAACGAACTACATTTTTCAGCCGCAGC

wildtype AA sequence

MKKGIRYETS RKTSYIFQPQ HGPWQTRMRK ISNHGSLRVA KVAYPLGLCV GVFIYVAYIK
WHRATATQAF FSITRAAPGA RWGQQAHSPL GTAADGHEVF YGIMFDAGST GTRVHVFQFT
RPPRETPTLT HETFKALKPG LSAYADDVEK SAQGIRELLD VAKQDIPFDF WKATPLVLKA
TAGLRLLPGE KAQKLLQKVK KVFKASPFLV GDDCVSIMNG TDEGVSAWIT INFLTGSLKT
PGGSSVGMLD LGGGSTQIAF LPRVEGTLQA SPPGYLTALR MFNRTYKLYS YSYLGLGLMS
ARLAILGGVE GQPAKDGKEL VSPCLSPSFK GEWEHAEVTY RVSGQKAAAS LHELCAARVS
EVLQNRVHRT EEVKHVDFYA FSYYYDLAAG VGLIDAEKGG SLVVGDFEIA AKYVCRTLET
QPQSSPFSCM DLTYVSLLLQ EFGFPRSKVL KLTRKIDNVE TSWALGAIFH YIDSLNRQKS
PAS*

mutated AA sequence

MKKGIRYETS RKTNYIFQPQ HGPWQTRMRK ISNHGSLRVA KVAYPLGLCV GVFIYVAYIK
WHRATATQAF FSITRAAPGA RWGQQAHSPL GTAADGHEVF YGIMFDAGST GTRVHVFQFT
RPPRETPTLT HETFKALKPG LSAYADDVEK SAQGIRELLD VAKQDIPFDF WKATPLVLKA
TAGLRLLPGE KAQKLLQKVK KVFKASPFLV GDDCVSIMNG TDEGVSAWIT INFLTGSLKT
PGGSSVGMLD LGGGSTQIAF LPRVEGTLQA SPPGYLTALR MFNRTYKLYS YSYLGLGLMS
ARLAILGGVE GQPAKDGKEL VSPCLSPSFK GEWEHAEVTY RVSGQKAAAS LHELCAARVS
EVLQNRVHRT EEVKHVDFYA FSYYYDLAAG VGLIDAEKGG SLVVGDFEIA AKYVCRTLET
QPQSSPFSCM DLTYVSLLLQ EFGFPRSKVL KLTRKIDNVE TSWALGAIFH YIDSLNRQKS
PAS*

speed

1.15 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: 0.999999999996785 (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)

chr20:25187213G>AN/A show variant in all transcripts IGV

HGNC symbol

ENTPD6

Ensembl transcript ID

ENST00000376652

Genbank transcript ID

NM_001247

UniProt peptide

O75354

alteration type

single base exchange

alteration region

CDS

DNA changes

c.41G>A
cDNA.204G>A
g.10885G>A

AA changes

S14N Score: 46 explain score(s)

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

frameshift

known variant

Reference ID: rs2076559

database	homozygous (A/A)	heterozygous	allele carriers
1000G	313	936	1249
ExAC	6692	19383	26075

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.588	0.001
	0.004	0
(flanking)	-0.334	0

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	10877	wt: 0.9340 / mu: 0.9578 (marginal change - not scored)	wt: TCCAGAAAAACGAGC mu: TCCAGAAAAACGAAC	CAGA\|aaaa
Donor increased	10880	wt: 0.26 / mu: 0.96	wt: AGAAAAACGAGCTAC mu: AGAAAAACGAACTAC	AAAA\|acga

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

ENSPTRG00000013338

Mmulatta

all identical

ENSMMUG00000011874

Fcatus

all identical

ENSFCAG00000006392

Mmusculus

no alignment

ENSMUSG00000033068

n/a

Ggallus

no alignment

ENSGALG00000008563

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000008757

n/a

Dmelanogaster

no alignment

FBgn0024947

n/a

Celegans

no alignment

K08H10.4

n/a

Xtropicalis

no alignment

ENSXETG00000012776

n/a

protein features

start (aa)	end (aa)	feature	details
1	39	TOPO_DOM	Cytoplasmic (Potential).	lost
19	19	CONFLICT	Missing (in Ref. 6; AAH25980).	might get lost (downstream of altered splice site)
40	60	TRANSMEM	Helical; Signal-anchor for type II membrane protein; (Potential).	might get lost (downstream of altered splice site)
61	484	TOPO_DOM	Lumenal (Potential).	might get lost (downstream of altered splice site)
220	220	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	224	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
238	238	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
284	284	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
325	325	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
356	356	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
416	416	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
430	430	DISULFID	In soluble form.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1455 / 1455

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

485 / 485

position of stopcodon in wt / mu cDNA

1618 / 1618

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

164 / 164

chromosome

strand

last intron/exon boundary

1520

theoretical NMD boundary in CDS

1306

length of CDS

1455

coding sequence (CDS) position

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

204

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

10885

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

25187213

original gDNA sequence snippet

TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGGTTTGTC

altered gDNA sequence snippet

TGAAACTTCCAGAAAAACGAACTACATTTTTCAGGTTTGTC

original cDNA sequence snippet

TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGCAGCCGC

altered cDNA sequence snippet

TGAAACTTCCAGAAAAACGAACTACATTTTTCAGCAGCCGC

wildtype AA sequence

MKKGIRYETS RKTSYIFQQP QHGPWQTRMR KISNHGSLRV AKVAYPLGLC VGVFIYVAYI
KWHRATATQA FFSITRAAPG ARWGQQAHSP LGTAADGHEV FYGIMFDAGS TGTRVHVFQF
TRPPRETPTL THETFKALKP GLSAYADDVE KSAQGIRELL DVAKQDIPFD FWKATPLVLK
ATAGLRLLPG EKAQKLLQKV KKVFKASPFL VGDDCVSIMN GTDEGVSAWI TINFLTGSLK
TPGGSSVGML DLGGGSTQIA FLPRVEGTLQ ASPPGYLTAL RMFNRTYKLY SYSYLGLGLM
SARLAILGGV EGQPAKDGKE LVSPCLSPSF KGEWEHAEVT YRVSGQKAAA SLHELCAARV
SEVLQNRVHR TEEVKHVDFY AFSYYYDLAA GVGLIDAEKG GSLVVGDFEI AAKYVCRTLE
TQPQSSPFSC MDLTYVSLLL QEFGFPRSKV LKLTRKIDNV ETSWALGAIF HYIDSLNRQK
SPAS*

mutated AA sequence

MKKGIRYETS RKTNYIFQQP QHGPWQTRMR KISNHGSLRV AKVAYPLGLC VGVFIYVAYI
KWHRATATQA FFSITRAAPG ARWGQQAHSP LGTAADGHEV FYGIMFDAGS TGTRVHVFQF
TRPPRETPTL THETFKALKP GLSAYADDVE KSAQGIRELL DVAKQDIPFD FWKATPLVLK
ATAGLRLLPG EKAQKLLQKV KKVFKASPFL VGDDCVSIMN GTDEGVSAWI TINFLTGSLK
TPGGSSVGML DLGGGSTQIA FLPRVEGTLQ ASPPGYLTAL RMFNRTYKLY SYSYLGLGLM
SARLAILGGV EGQPAKDGKE LVSPCLSPSF KGEWEHAEVT YRVSGQKAAA SLHELCAARV
SEVLQNRVHR TEEVKHVDFY AFSYYYDLAA GVGLIDAEKG GSLVVGDFEI AAKYVCRTLE
TQPQSSPFSC MDLTYVSLLL QEFGFPRSKV LKLTRKIDNV ETSWALGAIF HYIDSLNRQK
SPAS*

speed

1.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996785 (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)

chr20:25187213G>AN/A show variant in all transcripts IGV

HGNC symbol

ENTPD6

Ensembl transcript ID

ENST00000433259

Genbank transcript ID

N/A

UniProt peptide

O75354

alteration type

single base exchange

alteration region

CDS

DNA changes

c.41G>A
cDNA.167G>A
g.10885G>A

AA changes

S14N Score: 46 explain score(s)

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

frameshift

known variant

Reference ID: rs2076559

database	homozygous (A/A)	heterozygous	allele carriers
1000G	313	936	1249
ExAC	6692	19383	26075

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.588	0.001
	0.004	0
(flanking)	-0.334	0

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	10877	wt: 0.9340 / mu: 0.9578 (marginal change - not scored)	wt: TCCAGAAAAACGAGC mu: TCCAGAAAAACGAAC	CAGA\|aaaa
Donor increased	10880	wt: 0.26 / mu: 0.96	wt: AGAAAAACGAGCTAC mu: AGAAAAACGAACTAC	AAAA\|acga

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

ENSPTRG00000013338

Mmulatta

all identical

ENSMMUG00000011874

Fcatus

all identical

ENSFCAG00000006392

Mmusculus

no alignment

ENSMUSG00000033068

n/a

Ggallus

no alignment

ENSGALG00000008563

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000008757

n/a

Dmelanogaster

no alignment

FBgn0024947

n/a

Celegans

no alignment

K08H10.4

n/a

Xtropicalis

no alignment

ENSXETG00000012776

n/a

protein features

start (aa)	end (aa)	feature	details
1	39	TOPO_DOM	Cytoplasmic (Potential).	lost
19	19	CONFLICT	Missing (in Ref. 6; AAH25980).	might get lost (downstream of altered splice site)
40	60	TRANSMEM	Helical; Signal-anchor for type II membrane protein; (Potential).	might get lost (downstream of altered splice site)
61	484	TOPO_DOM	Lumenal (Potential).	might get lost (downstream of altered splice site)
220	220	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	224	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
238	238	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
284	284	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
325	325	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
356	356	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
416	416	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
430	430	DISULFID	In soluble form.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1314 / 1314

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

438 / 438

position of stopcodon in wt / mu cDNA

1440 / 1440

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

127 / 127

chromosome

strand

last intron/exon boundary

1424

theoretical NMD boundary in CDS

1247

length of CDS

1314

coding sequence (CDS) position

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

167

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

10885

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

25187213

original gDNA sequence snippet

TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGGTTTGTC

altered gDNA sequence snippet

TGAAACTTCCAGAAAAACGAACTACATTTTTCAGGTTTGTC

original cDNA sequence snippet

TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGCAGCCGC

altered cDNA sequence snippet

TGAAACTTCCAGAAAAACGAACTACATTTTTCAGCAGCCGC

wildtype AA sequence

MKKGIRYETS RKTSYIFQQP QHGPWQTRMR KISNHGSLRV AKVAYPLGLC VGVFIYVAYI
KWHRATATQA FFSITRAAPG ARWGQQAHSP LGTAADGHEV FYGIMFDAGS TGTRVHVFQF
TRPPRETPTL THETFKALKP GLSAYADDVE KSAQGIRELL DVAKQDIPFD FWKATPLVLK
ATAGLRLLPG EKAQKLLQKV KKVFKASPFL VGDDCVSIMN GTDEGVSAWI TINFLTGSLK
TPGGSSVGML DLGGGSTQIA FLPRVEGTLQ ASPPGYLTAL RMFNRTYKLY SYSYLGLGLM
SARLAILGGV EGQPAASLHE LCAARVSEVL QNRVHRTEEV KHVDFYAFSY YYDLAAGVGL
IDAEKGGSLV VGDFEIAAKY GGSHLEREGT CLIPSVSDPG DTAAEQPLLM HGPHLRQPAT
PGVRLSQEQS AEAHSEN*

mutated AA sequence

MKKGIRYETS RKTNYIFQQP QHGPWQTRMR KISNHGSLRV AKVAYPLGLC VGVFIYVAYI
KWHRATATQA FFSITRAAPG ARWGQQAHSP LGTAADGHEV FYGIMFDAGS TGTRVHVFQF
TRPPRETPTL THETFKALKP GLSAYADDVE KSAQGIRELL DVAKQDIPFD FWKATPLVLK
ATAGLRLLPG EKAQKLLQKV KKVFKASPFL VGDDCVSIMN GTDEGVSAWI TINFLTGSLK
TPGGSSVGML DLGGGSTQIA FLPRVEGTLQ ASPPGYLTAL RMFNRTYKLY SYSYLGLGLM
SARLAILGGV EGQPAASLHE LCAARVSEVL QNRVHRTEEV KHVDFYAFSY YYDLAAGVGL
IDAEKGGSLV VGDFEIAAKY GGSHLEREGT CLIPSVSDPG DTAAEQPLLM HGPHLRQPAT
PGVRLSQEQS AEAHSEN*

speed

1.14 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999877455141 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr20:25187213G>AN/A show variant in all transcripts IGV

HGNC symbol

ENTPD6

Ensembl transcript ID

ENST00000354989

Genbank transcript ID

NM_001114089

UniProt peptide

O75354

alteration type

single base exchange

alteration region

intron

DNA changes

g.10885G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2076559

database	homozygous (A/A)	heterozygous	allele carriers
1000G	313	936	1249
ExAC	6692	19383	26075

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.588	0.001
	0.004	0
(flanking)	-0.334	0

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	10877	wt: 0.9340 / mu: 0.9578 (marginal change - not scored)	wt: TCCAGAAAAACGAGC mu: TCCAGAAAAACGAAC	CAGA\|aaaa
Donor increased	10880	wt: 0.26 / mu: 0.96	wt: AGAAAAACGAGCTAC mu: AGAAAAACGAACTAC	AAAA\|acga

distance from splice site

499

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	39	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
19	19	CONFLICT	Missing (in Ref. 6; AAH25980).	might get lost (downstream of altered splice site)
40	60	TRANSMEM	Helical; Signal-anchor for type II membrane protein; (Potential).	might get lost (downstream of altered splice site)
61	484	TOPO_DOM	Lumenal (Potential).	might get lost (downstream of altered splice site)
220	220	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	224	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
238	238	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
284	284	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
325	325	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
356	356	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
416	416	DISULFID	In soluble form.	might get lost (downstream of altered splice site)
430	430	DISULFID	In soluble form.	might get lost (downstream of altered splice site)

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

173 / 173

chromosome

strand

last intron/exon boundary

1478

theoretical NMD boundary in CDS

1255

length of CDS

1404

coding sequence (CDS) position

N/A

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

N/A

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

10885

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

25187213

original gDNA sequence snippet

TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGGTTTGTC

altered gDNA sequence snippet

TGAAACTTCCAGAAAAACGAACTACATTTTTCAGGTTTGTC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MQPQHGPWQT RMRKISNHGS LRVAKVAYPL GLCVGVFIYV AYIKWHRATA TQAFFSITRA
APGARWGQQA HSPLGTAADG HEVFYGIMFD AGSTGTRVHV FQFTRPPRET PTLTHETFKA
LKPGLSAYAD DVEKSAQGIR ELLDVAKQDI PFDFWKATPL VLKATAGLRL LPGEKAQKLL
QKVKKVFKAS PFLVGDDCVS IMNGTDEGVS AWITINFLTG SLKTPGGSSV GMLDLGGGST
QIAFLPRVEG TLQASPPGYL TALRMFNRTY KLYSYSYLGL GLMSARLAIL GGVEGQPAKD
GKELVSPCLS PSFKGEWEHA EVTYRVSGQK AAASLHELCA ARVSEVLQNR VHRTEEVKHV
DFYAFSYYYD LAAGVGLIDA EKGGSLVVGD FEIAAKYVCR TLETQPQSSP FSCMDLTYVS
LLLQEFGFPR SKVLKLTRKI DNVETSWALG AIFHYIDSLN RQKSPAS*

mutated AA sequence

N/A

speed

0.52 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