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: ENST00000540235
Querying Taster for transcript #2: ENST00000393939
Querying Taster for transcript #3: ENST00000347901
Querying Taster for transcript #4: ENST00000341193
Querying Taster for transcript #5: ENST00000310778
MT speed 0 s - this script 5.623935 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
HAP1	polymorphism_automatic	1.36729516597711e-11	simple_aae		affected		S58T	single base exchange	rs4796603		show file
HAP1	polymorphism_automatic	1.36729516597711e-11	simple_aae		affected		S58T	single base exchange	rs4796603		show file
HAP1	polymorphism_automatic	1.85389481544007e-11	simple_aae		affected		S58T	single base exchange	rs4796603		show file
HAP1	polymorphism_automatic	1.85389481544007e-11	simple_aae		affected		S58T	single base exchange	rs4796603		show file
JUP	polymorphism_automatic	3.12111234309631e-05	without_aae		affected			single base exchange	rs4796603		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986327 (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)

chr17:39890715A>TN/A show variant in all transcripts IGV

HGNC symbol

HAP1

Ensembl transcript ID

ENST00000347901

Genbank transcript ID

NM_177977

UniProt peptide

P54257

alteration type

single base exchange

alteration region

CDS

DNA changes

c.172T>A
cDNA.182T>A
g.182T>A

AA changes

S58T Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs4796603

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1570	716	2286
ExAC	-	-	-

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
TAF7, Transcription Factor, TAF7 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.112	0.003
	0.79	0.003
(flanking)	-0.186	0.002

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 increased	181	wt: 0.20 / mu: 0.31	wt: TCTGGATCCCAGTTC mu: TCTGGAACCCAGTTC	TGGA\|tccc

distance from splice site

182

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000002132

Mmusculus

all identical

ENSMUSG00000006930

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074508

n/a

Dmelanogaster

not conserved

FBgn0262872

1157

Celegans

no alignment

T27A3.1

n/a

Xtropicalis

no alignment

ENSXETG00000012489

n/a

protein features

start (aa)	end (aa)	feature	details
106	461	DOMAIN	HAP1 N-terminal.	might get lost (downstream of altered splice site)
184	199	CONFLICT	Missing (in Ref. 6; CAB82785).	might get lost (downstream of altered splice site)
261	601	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
573	573	CONFLICT	P -> L (in Ref. 3; BAB13952).	might get lost (downstream of altered splice site)
579	579	CONFLICT	M -> V (in Ref. 1; AAC39861).	might get lost (downstream of altered splice site)
611	611	CONFLICT	A -> T (in Ref. 7; AAC50297).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1860 / 1860

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

620 / 620

position of stopcodon in wt / mu cDNA

1870 / 1870

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

11 / 11

chromosome

strand

-1

last intron/exon boundary

1417

theoretical NMD boundary in CDS

1356

length of CDS

1860

coding sequence (CDS) position

172

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

182

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

182

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

39890715

original gDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered gDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

original cDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered cDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

wildtype AA sequence

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM
QLQEEETLPG FQETLAEELR TSLRRMISDP VYFMERNYEM PRGDTSSLRY DFRYSEDREQ
VRGFEAEEGL MLAADIMRGE DFTPAEEFVP QEELGAAKKV PAEEGVMEEA ELVSEETEGW
EEVELELDEA TRMNVVTSAL EASGLGPSHL DMNYVLQQLA NWQDAHYRRQ LRWKMLQKGE
CPHGALPAAS RTSCRSSCR*

mutated AA sequence

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGTQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM
QLQEEETLPG FQETLAEELR TSLRRMISDP VYFMERNYEM PRGDTSSLRY DFRYSEDREQ
VRGFEAEEGL MLAADIMRGE DFTPAEEFVP QEELGAAKKV PAEEGVMEEA ELVSEETEGW
EEVELELDEA TRMNVVTSAL EASGLGPSHL DMNYVLQQLA NWQDAHYRRQ LRWKMLQKGE
CPHGALPAAS RTSCRSSCR*

speed

1.25 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: 0.999999999986327 (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)

chr17:39890715A>TN/A show variant in all transcripts IGV

HGNC symbol

HAP1

Ensembl transcript ID

ENST00000310778

Genbank transcript ID

N/A

UniProt peptide

P54257

alteration type

single base exchange

alteration region

CDS

DNA changes

c.172T>A
cDNA.182T>A
g.182T>A

AA changes

S58T Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs4796603

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1570	716	2286
ExAC	-	-	-

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.112	0.003
	0.79	0.003
(flanking)	-0.186	0.002

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 increased	181	wt: 0.20 / mu: 0.31	wt: TCTGGATCCCAGTTC mu: TCTGGAACCCAGTTC	TGGA\|tccc

distance from splice site

182

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000002132

Mmusculus

all identical

ENSMUSG00000006930

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074508

n/a

Dmelanogaster

not conserved

FBgn0262872

1157

Celegans

no alignment

T27A3.1

n/a

Xtropicalis

no alignment

ENSXETG00000012489

n/a

protein features

start (aa)	end (aa)	feature	details
106	461	DOMAIN	HAP1 N-terminal.	might get lost (downstream of altered splice site)
184	199	CONFLICT	Missing (in Ref. 6; CAB82785).	might get lost (downstream of altered splice site)
261	601	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
573	573	CONFLICT	P -> L (in Ref. 3; BAB13952).	might get lost (downstream of altered splice site)
579	579	CONFLICT	M -> V (in Ref. 1; AAC39861).	might get lost (downstream of altered splice site)
611	611	CONFLICT	A -> T (in Ref. 7; AAC50297).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2016 / 2016

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

672 / 672

position of stopcodon in wt / mu cDNA

2026 / 2026

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

11 / 11

chromosome

strand

-1

last intron/exon boundary

1573

theoretical NMD boundary in CDS

1512

length of CDS

2016

coding sequence (CDS) position

172

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

182

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

182

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

39890715

original gDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered gDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

original cDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered cDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

wildtype AA sequence

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM
QLQEESVWVG SQLQDLREKY MDCGGMLIEM QEEVKTLRQQ PPVSTGSATH YPYSVPLETL
PGFQETLAEE LRTSLRRMIS DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE
GLMLAADIMR GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK GECPHGALPA
ASRTSCRSSC R*

mutated AA sequence

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGTQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM
QLQEESVWVG SQLQDLREKY MDCGGMLIEM QEEVKTLRQQ PPVSTGSATH YPYSVPLETL
PGFQETLAEE LRTSLRRMIS DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE
GLMLAADIMR GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK GECPHGALPA
ASRTSCRSSC R*

speed

1.32 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999981461 (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)

chr17:39890715A>TN/A show variant in all transcripts IGV

HGNC symbol

HAP1

Ensembl transcript ID

ENST00000393939

Genbank transcript ID

NM_001079871

UniProt peptide

P54257

alteration type

single base exchange

alteration region

CDS

DNA changes

c.172T>A
cDNA.182T>A
g.182T>A

AA changes

S58T Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs4796603

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1570	716	2286
ExAC	-	-	-

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.112	0.003
	0.79	0.003
(flanking)	-0.186	0.002

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 increased	181	wt: 0.20 / mu: 0.31	wt: TCTGGATCCCAGTTC mu: TCTGGAACCCAGTTC	TGGA\|tccc

distance from splice site

182

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000002132

Mmusculus

all identical

ENSMUSG00000006930

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074508

n/a

Dmelanogaster

not conserved

FBgn0262872

1157

Celegans

no alignment

T27A3.1

n/a

Xtropicalis

all conserved

ENSXETG00000012489

protein features

start (aa)	end (aa)	feature	details
106	461	DOMAIN	HAP1 N-terminal.	might get lost (downstream of altered splice site)
184	199	CONFLICT	Missing (in Ref. 6; CAB82785).	might get lost (downstream of altered splice site)
261	601	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
573	573	CONFLICT	P -> L (in Ref. 3; BAB13952).	might get lost (downstream of altered splice site)
579	579	CONFLICT	M -> V (in Ref. 1; AAC39861).	might get lost (downstream of altered splice site)
611	611	CONFLICT	A -> T (in Ref. 7; AAC50297).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1785 / 1785

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

595 / 595

position of stopcodon in wt / mu cDNA

1795 / 1795

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

11 / 11

chromosome

strand

-1

last intron/exon boundary

1342

theoretical NMD boundary in CDS

1281

length of CDS

1785

coding sequence (CDS) position

172

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

182

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

182

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

39890715

original gDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered gDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

original cDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered cDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

wildtype AA sequence

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM ETLPGFQETL AEELRTSLRR
MISDPVYFME RNYEMPRGDT SSLRYDFRYS EDREQVRGFE AEEGLMLAAD IMRGEDFTPA
EEFVPQEELG AAKKVPAEEG VMEEAELVSE ETEGWEEVEL ELDEATRMNV VTSALEASGL
GPSHLDMNYV LQQLANWQDA HYRRQLRWKM LQKGECPHGA LPAASRTSCR SSCR*

mutated AA sequence

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGTQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM ETLPGFQETL AEELRTSLRR
MISDPVYFME RNYEMPRGDT SSLRYDFRYS EDREQVRGFE AEEGLMLAAD IMRGEDFTPA
EEFVPQEELG AAKKVPAEEG VMEEAELVSE ETEGWEEVEL ELDEATRMNV VTSALEASGL
GPSHLDMNYV LQQLANWQDA HYRRQLRWKM LQKGECPHGA LPAASRTSCR SSCR*

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999981461 (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)

chr17:39890715A>TN/A show variant in all transcripts IGV

HGNC symbol

HAP1

Ensembl transcript ID

ENST00000341193

Genbank transcript ID

NM_001079870

UniProt peptide

P54257

alteration type

single base exchange

alteration region

CDS

DNA changes

c.172T>A
cDNA.182T>A
g.182T>A

AA changes

S58T Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs4796603

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1570	716	2286
ExAC	-	-	-

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.112	0.003
	0.79	0.003
(flanking)	-0.186	0.002

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 increased	181	wt: 0.20 / mu: 0.31	wt: TCTGGATCCCAGTTC mu: TCTGGAACCCAGTTC	TGGA\|tccc

distance from splice site

182

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000002132

Mmusculus

all identical

ENSMUSG00000006930

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074508

n/a

Dmelanogaster

not conserved

FBgn0262872

1157

Celegans

no alignment

T27A3.1

n/a

Xtropicalis

all conserved

ENSXETG00000012489

protein features

start (aa)	end (aa)	feature	details
106	461	DOMAIN	HAP1 N-terminal.	might get lost (downstream of altered splice site)
184	199	CONFLICT	Missing (in Ref. 6; CAB82785).	might get lost (downstream of altered splice site)
261	601	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
573	573	CONFLICT	P -> L (in Ref. 3; BAB13952).	might get lost (downstream of altered splice site)
579	579	CONFLICT	M -> V (in Ref. 1; AAC39861).	might get lost (downstream of altered splice site)
611	611	CONFLICT	A -> T (in Ref. 7; AAC50297).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1809 / 1809

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

603 / 603

position of stopcodon in wt / mu cDNA

1819 / 1819

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

11 / 11

chromosome

strand

-1

last intron/exon boundary

1366

theoretical NMD boundary in CDS

1305

length of CDS

1809

coding sequence (CDS) position

172

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

182

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

182

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

39890715

original gDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered gDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

original cDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered cDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

wildtype AA sequence

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEEVCTAFLI QLLPPVWESV TYGMVLQRER DLNTAARIGQ SLVKQNSVLM EENSKLEALL
GSAKEEILYL RHQVNLRDEL LQLYSDSDEE DEDEEEEEEE KEAEEEQEEE EAEEDLQCAH
PCDAPKLISQ EALLHQHHCP QLEALQEKLR LLEEENHQLR EEASQLDTLE DEEQMLILEC
VEQFSEASQQ MAELSEVLVL RLENYERQQQ EVARLQAQVL KLQQRCRMET LPGFQETLAE
ELRTSLRRMI SDPVYFMERN YEMPRGDTSS LRYDFRYSED REQVRGFEAE EGLMLAADIM
RGEDFTPAEE FVPQEELGAA KKVPAEEGVM EEAELVSEET EGWEEVELEL DEATRMNVVT
SALEASGLGP SHLDMNYVLQ QLANWQDAHY RRQLRWKMLQ KGECPHGALP AASRTSCRSS
CR*

mutated AA sequence

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGTQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEEVCTAFLI QLLPPVWESV TYGMVLQRER DLNTAARIGQ SLVKQNSVLM EENSKLEALL
GSAKEEILYL RHQVNLRDEL LQLYSDSDEE DEDEEEEEEE KEAEEEQEEE EAEEDLQCAH
PCDAPKLISQ EALLHQHHCP QLEALQEKLR LLEEENHQLR EEASQLDTLE DEEQMLILEC
VEQFSEASQQ MAELSEVLVL RLENYERQQQ EVARLQAQVL KLQQRCRMET LPGFQETLAE
ELRTSLRRMI SDPVYFMERN YEMPRGDTSS LRYDFRYSED REQVRGFEAE EGLMLAADIM
RGEDFTPAEE FVPQEELGAA KKVPAEEGVM EEAELVSEET EGWEEVELEL DEATRMNVVT
SALEASGLGP SHLDMNYVLQ QLANWQDAHY RRQLRWKMLQ KGECPHGALP AASRTSCRSS
CR*

speed

1.02 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999968788876569 (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)

chr17:39890715A>TN/A show variant in all transcripts IGV

HGNC symbol

JUP

Ensembl transcript ID

ENST00000540235

Genbank transcript ID

N/A

UniProt peptide

P14923

alteration type

single base exchange

alteration region

intron

DNA changes

g.52469T>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4796603

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1570	716	2286
ExAC	-	-	-

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.112	0.003
	0.79	0.003
(flanking)	-0.186	0.002

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 increased	52468	wt: 0.20 / mu: 0.31	wt: TCTGGATCCCAGTTC mu: TCTGGAACCCAGTTC	TGGA\|tccc

distance from splice site

32916

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
300	308	HELIX		might get lost (downstream of altered splice site)
311	321	HELIX		might get lost (downstream of altered splice site)
325	338	HELIX		might get lost (downstream of altered splice site)
342	381	REPEAT	ARM 4.	might get lost (downstream of altered splice site)
344	350	HELIX		might get lost (downstream of altered splice site)
353	358	HELIX		might get lost (downstream of altered splice site)
359	362	HELIX		might get lost (downstream of altered splice site)
366	380	HELIX		might get lost (downstream of altered splice site)
383	420	REPEAT	ARM 5.	might get lost (downstream of altered splice site)
390	397	HELIX		might get lost (downstream of altered splice site)
398	401	TURN		might get lost (downstream of altered splice site)
405	418	HELIX		might get lost (downstream of altered splice site)
419	421	TURN		might get lost (downstream of altered splice site)
423	429	HELIX		might get lost (downstream of altered splice site)
423	464	REPEAT	ARM 6.	might get lost (downstream of altered splice site)
430	433	TURN		might get lost (downstream of altered splice site)
434	445	HELIX		might get lost (downstream of altered splice site)
449	462	HELIX		might get lost (downstream of altered splice site)
464	466	STRAND		might get lost (downstream of altered splice site)
469	477	HELIX		might get lost (downstream of altered splice site)
470	510	REPEAT	ARM 7.	might get lost (downstream of altered splice site)
478	480	TURN		might get lost (downstream of altered splice site)
481	487	HELIX		might get lost (downstream of altered splice site)
488	490	HELIX		might get lost (downstream of altered splice site)
495	508	HELIX		might get lost (downstream of altered splice site)
512	514	HELIX		might get lost (downstream of altered splice site)
512	551	REPEAT	ARM 8.	might get lost (downstream of altered splice site)
515	520	HELIX		might get lost (downstream of altered splice site)
523	543	HELIX		might get lost (downstream of altered splice site)
556	570	HELIX		might get lost (downstream of altered splice site)
574	582	HELIX		might get lost (downstream of altered splice site)
574	613	REPEAT	ARM 9.	might get lost (downstream of altered splice site)
586	592	HELIX		might get lost (downstream of altered splice site)
598	611	HELIX		might get lost (downstream of altered splice site)
615	623	HELIX		might get lost (downstream of altered splice site)
624	626	TURN		might get lost (downstream of altered splice site)
627	633	HELIX		might get lost (downstream of altered splice site)
639	651	HELIX		might get lost (downstream of altered splice site)
660	660	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
662	667	HELIX		might get lost (downstream of altered splice site)
665	665	MOD_RES	Phosphoserine.	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

1 / 1

chromosome

strand

-1

last intron/exon boundary

1682

theoretical NMD boundary in CDS

1631

length of CDS

1776

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)

52469

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

39890715

original gDNA sequence snippet

GATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCC

altered gDNA sequence snippet

GATCCCGAGCCACCTCTGGAACCCAGTTCCTCTCGGAAGCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MEVMNLMEQP IKVTEWQQTY TYDSGIHSGA NTCVPSVSSK GIMEEDEACG RQYTLKKTTT
YTQGVPPSQG DLEYQMSTTA RAKRVREAMC PGVSGEDSSL LLATQVEGQA TNLQRLAEPS
QLLKSAIVHL INYQDDAELA TRALPELTKL LNDEDPVVVT KAAMIVNQLS KKEASRRALM
GSPQLVAAVV RTMQNTSDLD TARCTTSILH NLSHHREGLL AIFKSGGIPA LVRMLSSPVE
SVLFYAITTL HNLLLYQEGA KMAVRLADGL QKMVPLLNKN NPKFLAITTD CLQLLAYGNQ
ESKILTATVD NANILLQIDN ARLAADDFRT KFETEQALRL SVEADINGLR RVLDELTLAR
ADLEMQIENL KEELAYLKKN HEEEMNALRG QVGGEINVEM DAAPGVDLSR ILNEMRDQYE
KMAEKNRKDA EDWFFSKTEE LNREVATNSE LVQSGKSEIS ELRRTMQALE IELQSQLSMK
ASLEGNLAET ENRYCVQLSQ IQGLIGSVEE QLAQLRCEME QQNQEYKILL DVKTRLEQEI
ATYRRLLEGE DAHLTQYKKE PVTTRQVRTI VEEVQDGKVI SSREQVHQTT R*

mutated AA sequence

N/A

speed

0.98 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