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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000359774
Querying Taster for transcript #2: ENST00000358147
Querying Taster for transcript #3: ENST00000392796
Querying Taster for transcript #4: ENST00000409990
Querying Taster for transcript #5: ENST00000409124
MT speed 4.46 s - this script 4.72778 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
WDSUB1	polymorphism_automatic	0.0504928207084639	simple_aae				K215T	single base exchange	rs16843852		show file
WDSUB1	polymorphism_automatic	0.999517151163823	simple_aae				K215T	single base exchange	rs16843852		show file
WDSUB1	polymorphism_automatic	0.999517151163823	simple_aae				K215T	single base exchange	rs16843852		show file
WDSUB1	polymorphism_automatic	0.999517151163823	simple_aae				K215T	single base exchange	rs16843852		show file
WDSUB1	polymorphism_automatic	0.999517151163823	simple_aae				K215T	single base exchange	rs16843852		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.949507179291536 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:160132089T>GN/A show variant in all transcripts IGV

HGNC symbol

WDSUB1

Ensembl transcript ID

ENST00000358147

Genbank transcript ID

N/A

UniProt peptide

Q8N9V3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.644A>C
cDNA.789A>C
g.11222A>C

AA changes

K215T Score: 78 explain score(s)

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

215

frameshift

known variant

Reference ID: rs16843852

database	homozygous (G/G)	heterozygous	allele carriers
1000G	165	693	858
ExAC	1332	9597	10929

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.883	0.996
	1.957	1
(flanking)	4.477	1

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

215

mutated

not conserved

215

Ptroglodytes

not conserved

ENSPTRG00000012562

307

Mmulatta

not conserved

ENSMMUG00000006181

311

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000026988

309

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005814

309

WRIGD

Drerio

all identical

ENSDARG00000090418

216

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007589

304

protein features

start (aa)	end (aa)	feature	details
178	228	REPEAT	WD 5.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1155 / 1155

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

385 / 385

position of stopcodon in wt / mu cDNA

1300 / 1300

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

146 / 146

chromosome

strand

-1

last intron/exon boundary

1143

theoretical NMD boundary in CDS

947

length of CDS

1155

coding sequence (CDS) position

644

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

789

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

11222

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

160132089

original gDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered gDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

original cDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered cDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

wildtype AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVKIWIVS FTHILARRTE HQLKQFTEDW
SEEDVSTWLC AQDLKDLVGI FKMNNIDGKE LLNLTKESLA DDLKIESLGL RSKVLRKIEE
LRTKVKSLSS GIPDEFICPI TRELMKDPVI ASDGYSYEKE AMENWISKKK RTSPMTNLVL
PSAVLTPNRT LKMAINRWLE THQK*

mutated AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVTIWIVS FTHILARRTE HQLKQFTEDW
SEEDVSTWLC AQDLKDLVGI FKMNNIDGKE LLNLTKESLA DDLKIESLGL RSKVLRKIEE
LRTKVKSLSS GIPDEFICPI TRELMKDPVI ASDGYSYEKE AMENWISKKK RTSPMTNLVL
PSAVLTPNRT LKMAINRWLE THQK*

speed

0.95 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: 0.000482848836176544 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:160132089T>GN/A show variant in all transcripts IGV

HGNC symbol

WDSUB1

Ensembl transcript ID

ENST00000359774

Genbank transcript ID

NM_001128212

UniProt peptide

Q8N9V3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.644A>C
cDNA.885A>C
g.11222A>C

AA changes

K215T Score: 78 explain score(s)

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

215

frameshift

known variant

Reference ID: rs16843852

database	homozygous (G/G)	heterozygous	allele carriers
1000G	165	693	858
ExAC	1332	9597	10929

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.883	0.996
	1.957	1
(flanking)	4.477	1

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

215

mutated

not conserved

215

Ptroglodytes

all identical

ENSPTRG00000012562

214

Mmulatta

all identical

ENSMMUG00000006181

215

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026988

215

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005814

216

Drerio

all identical

ENSDARG00000090418

216

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000007589

215

protein features

start (aa)	end (aa)	feature	details
178	228	REPEAT	WD 5.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

position of stopcodon in wt / mu cDNA

1672 / 1672

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

242 / 242

chromosome

strand

-1

last intron/exon boundary

1515

theoretical NMD boundary in CDS

1223

length of CDS

1431

coding sequence (CDS) position

644

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

885

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

11222

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

160132089

original gDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered gDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

original cDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered cDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

wildtype AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVKIWIVS FTHILGFELK YKSTLSGHCA
PVLACAFSHD GQMLVSGSVD KSVIVYDTNT ENILHTLTQH TRYVTTCAFA PNTLLLATGS
MDKTVNIWQF DLETLCQARR TEHQLKQFTE DWSEEDVSTW LCAQDLKDLV GIFKMNNIDG
KELLNLTKES LADDLKIESL GLRSKVLRKI EELRTKVKSL SSGIPDEFIC PITRELMKDP
VIASDGYSYE KEAMENWISK KKRTSPMTNL VLPSAVLTPN RTLKMAINRW LETHQK*

mutated AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVTIWIVS FTHILGFELK YKSTLSGHCA
PVLACAFSHD GQMLVSGSVD KSVIVYDTNT ENILHTLTQH TRYVTTCAFA PNTLLLATGS
MDKTVNIWQF DLETLCQARR TEHQLKQFTE DWSEEDVSTW LCAQDLKDLV GIFKMNNIDG
KELLNLTKES LADDLKIESL GLRSKVLRKI EELRTKVKSL SSGIPDEFIC PITRELMKDP
VIASDGYSYE KEAMENWISK KKRTSPMTNL VLPSAVLTPN RTLKMAINRW LETHQK*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000482848836176544 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:160132089T>GN/A show variant in all transcripts IGV

HGNC symbol

WDSUB1

Ensembl transcript ID

ENST00000392796

Genbank transcript ID

NM_152528

UniProt peptide

Q8N9V3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.644A>C
cDNA.793A>C
g.11222A>C

AA changes

K215T Score: 78 explain score(s)

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

215

frameshift

known variant

Reference ID: rs16843852

database	homozygous (G/G)	heterozygous	allele carriers
1000G	165	693	858
ExAC	1332	9597	10929

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.883	0.996
	1.957	1
(flanking)	4.477	1

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

215

mutated

not conserved

215

Ptroglodytes

all identical

ENSPTRG00000012562

214

Mmulatta

all identical

ENSMMUG00000006181

215

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026988

215

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005814

216

Drerio

all identical

ENSDARG00000090418

216

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000007589

215

protein features

start (aa)	end (aa)	feature	details
178	228	REPEAT	WD 5.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

position of stopcodon in wt / mu cDNA

1580 / 1580

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

150 / 150

chromosome

strand

-1

last intron/exon boundary

1423

theoretical NMD boundary in CDS

1223

length of CDS

1431

coding sequence (CDS) position

644

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

793

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

11222

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

160132089

original gDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered gDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

original cDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered cDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

wildtype AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVKIWIVS FTHILGFELK YKSTLSGHCA
PVLACAFSHD GQMLVSGSVD KSVIVYDTNT ENILHTLTQH TRYVTTCAFA PNTLLLATGS
MDKTVNIWQF DLETLCQARR TEHQLKQFTE DWSEEDVSTW LCAQDLKDLV GIFKMNNIDG
KELLNLTKES LADDLKIESL GLRSKVLRKI EELRTKVKSL SSGIPDEFIC PITRELMKDP
VIASDGYSYE KEAMENWISK KKRTSPMTNL VLPSAVLTPN RTLKMAINRW LETHQK*

mutated AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVTIWIVS FTHILGFELK YKSTLSGHCA
PVLACAFSHD GQMLVSGSVD KSVIVYDTNT ENILHTLTQH TRYVTTCAFA PNTLLLATGS
MDKTVNIWQF DLETLCQARR TEHQLKQFTE DWSEEDVSTW LCAQDLKDLV GIFKMNNIDG
KELLNLTKES LADDLKIESL GLRSKVLRKI EELRTKVKSL SSGIPDEFIC PITRELMKDP
VIASDGYSYE KEAMENWISK KKRTSPMTNL VLPSAVLTPN RTLKMAINRW LETHQK*

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000482848836176544 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:160132089T>GN/A show variant in all transcripts IGV

HGNC symbol

WDSUB1

Ensembl transcript ID

ENST00000409124

Genbank transcript ID

N/A

UniProt peptide

Q8N9V3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.644A>C
cDNA.755A>C
g.11222A>C

AA changes

K215T Score: 78 explain score(s)

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

215

frameshift

known variant

Reference ID: rs16843852

database	homozygous (G/G)	heterozygous	allele carriers
1000G	165	693	858
ExAC	1332	9597	10929

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.883	0.996
	1.957	1
(flanking)	4.477	1

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

215

mutated

not conserved

215

Ptroglodytes

all identical

ENSPTRG00000012562

214

Mmulatta

all identical

ENSMMUG00000006181

215

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026988

215

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005814

216

Drerio

all identical

ENSDARG00000090418

216

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000007589

215

protein features

start (aa)	end (aa)	feature	details
178	228	REPEAT	WD 5.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1290 / 1290

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

430 / 430

position of stopcodon in wt / mu cDNA

1401 / 1401

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

1244

theoretical NMD boundary in CDS

1082

length of CDS

1290

coding sequence (CDS) position

644

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

755

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

11222

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

160132089

original gDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered gDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

original cDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered cDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

wildtype AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVKIWIVS FTHILGFELK YKSTLSGHCA
PVLACAFSHD GQMLVSGSVD KSVIVYDTNT ENILHTLTQH TRYVTTCAFA PNTLLLATGS
MDKTVNIWQF DLETLCQARR TEHQLKQFTE DWSEEDVSTW LCAQDLKDLV GIFKMNNIDG
KELLNLTKES LADDLKIDGY SYEKEAMENW ISKKKRTSPM TNLVLPSAVL TPNRTLKMAI
NRWLETHQK*

mutated AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVTIWIVS FTHILGFELK YKSTLSGHCA
PVLACAFSHD GQMLVSGSVD KSVIVYDTNT ENILHTLTQH TRYVTTCAFA PNTLLLATGS
MDKTVNIWQF DLETLCQARR TEHQLKQFTE DWSEEDVSTW LCAQDLKDLV GIFKMNNIDG
KELLNLTKES LADDLKIDGY SYEKEAMENW ISKKKRTSPM TNLVLPSAVL TPNRTLKMAI
NRWLETHQK*

speed

0.82 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000482848836176544 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:160132089T>GN/A show variant in all transcripts IGV

HGNC symbol

WDSUB1

Ensembl transcript ID

ENST00000409990

Genbank transcript ID

NM_001128213

UniProt peptide

Q8N9V3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.644A>C
cDNA.901A>C
g.11222A>C

AA changes

K215T Score: 78 explain score(s)

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

215

frameshift

known variant

Reference ID: rs16843852

database	homozygous (G/G)	heterozygous	allele carriers
1000G	165	693	858
ExAC	1332	9597	10929

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.883	0.996
	1.957	1
(flanking)	4.477	1

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

215

mutated

not conserved

215

Ptroglodytes

all identical

ENSPTRG00000012562

214

Mmulatta

all identical

ENSMMUG00000006181

215

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026988

215

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000005814

216

Drerio

all identical

ENSDARG00000090418

216

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000007589

215

protein features

start (aa)	end (aa)	feature	details
178	228	REPEAT	WD 5.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

position of stopcodon in wt / mu cDNA

1688 / 1688

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

258 / 258

chromosome

strand

-1

last intron/exon boundary

1531

theoretical NMD boundary in CDS

1223

length of CDS

1431

coding sequence (CDS) position

644

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

901

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

11222

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

160132089

original gDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered gDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

original cDNA sequence snippet

TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA

altered cDNA sequence snippet

TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA

wildtype AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVKIWIVS FTHILGFELK YKSTLSGHCA
PVLACAFSHD GQMLVSGSVD KSVIVYDTNT ENILHTLTQH TRYVTTCAFA PNTLLLATGS
MDKTVNIWQF DLETLCQARR TEHQLKQFTE DWSEEDVSTW LCAQDLKDLV GIFKMNNIDG
KELLNLTKES LADDLKIESL GLRSKVLRKI EELRTKVKSL SSGIPDEFIC PITRELMKDP
VIASDGYSYE KEAMENWISK KKRTSPMTNL VLPSAVLTPN RTLKMAINRW LETHQK*

mutated AA sequence

MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVTIWIVS FTHILGFELK YKSTLSGHCA
PVLACAFSHD GQMLVSGSVD KSVIVYDTNT ENILHTLTQH TRYVTTCAFA PNTLLLATGS
MDKTVNIWQF DLETLCQARR TEHQLKQFTE DWSEEDVSTW LCAQDLKDLV GIFKMNNIDG
KELLNLTKES LADDLKIESL GLRSKVLRKI EELRTKVKSL SSGIPDEFIC PITRELMKDP
VIASDGYSYE KEAMENWISK KKRTSPMTNL VLPSAVLTPN RTLKMAINRW LETHQK*

speed

1.08 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

Problems