MutationTaster - study a chromosomal position

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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 5.043441 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
HAP1	polymorphism_automatic	4.16799927904776e-12	simple_aae				T416M	single base exchange	rs4523977		show file
HAP1	polymorphism_automatic	4.16799927904776e-12	simple_aae				T424M	single base exchange	rs4523977		show file
HAP1	polymorphism_automatic	7.24498239179638e-12	simple_aae				T493M	single base exchange	rs4523977		show file
HAP1	polymorphism_automatic	1.34979805110902e-11	simple_aae				T441M	single base exchange	rs4523977		show file
JUP	polymorphism_automatic	2.41944456025323e-07	without_aae					single base exchange	rs4523977		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995832 (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 CM088454)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:39883350G>AN/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.1247C>T
cDNA.1257C>T
g.7547C>T

AA changes

T416M Score: 81 explain score(s)

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

416

frameshift

known variant

Reference ID: rs4523977

database	homozygous (A/A)	heterozygous	allele carriers
1000G	139	718	857
ExAC	2722	16799	19521

known disease mutation at this position, please check HGMD for details (HGMD ID CM088454)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.618	0
	-0.719	0.002
(flanking)	0.362	0.118

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

416

mutated

not conserved

416

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000002132

417

APGS

VTR

Mmusculus

not conserved

ENSMUSG00000006930

378

AGSYMQDYG

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074508

266

Dmelanogaster

no alignment

FBgn0262872

n/a

Celegans

all identical

T27A3.1

291

ELN

Xtropicalis

no alignment

ENSXETG00000012489

n/a

protein features

start (aa)	end (aa)	feature	details
106	461	DOMAIN	HAP1 N-terminal.	lost
261	601	COMPBIAS	Glu-rich.	lost

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

1247

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

1257

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

7547

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

39883350

original gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

original cDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered cDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

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 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 AEELRMSLRR
MISDPVYFME RNYEMPRGDT SSLRYDFRYS EDREQVRGFE AEEGLMLAAD IMRGEDFTPA
EEFVPQEELG AAKKVPAEEG VMEEAELVSE ETEGWEEVEL ELDEATRMNV VTSALEASGL
GPSHLDMNYV LQQLANWQDA HYRRQLRWKM LQKGECPHGA LPAASRTSCR SSCR*

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: 0.999999999995832 (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 CM088454)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:39883350G>AN/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.1271C>T
cDNA.1281C>T
g.7547C>T

AA changes

T424M Score: 81 explain score(s)

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

424

frameshift

known variant

Reference ID: rs4523977

database	homozygous (A/A)	heterozygous	allele carriers
1000G	139	718	857
ExAC	2722	16799	19521

known disease mutation at this position, please check HGMD for details (HGMD ID CM088454)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.618	0
	-0.719	0.002
(flanking)	0.362	0.118

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

424

mutated

not conserved

424

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000002132

409

APGS

Mmusculus

not conserved

ENSMUSG00000006930

377

AGSYMQDYG

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074508

266

Dmelanogaster

no alignment

FBgn0262872

n/a

Celegans

all identical

T27A3.1

291

ELN

Xtropicalis

no alignment

ENSXETG00000012489

n/a

protein features

start (aa)	end (aa)	feature	details
106	461	DOMAIN	HAP1 N-terminal.	lost
261	601	COMPBIAS	Glu-rich.	lost

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

1271

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

1281

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

7547

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

39883350

original gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

original cDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered cDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

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 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
ELRMSLRRMI SDPVYFMERN YEMPRGDTSS LRYDFRYSED REQVRGFEAE EGLMLAADIM
RGEDFTPAEE FVPQEELGAA KKVPAEEGVM EEAELVSEET EGWEEVELEL DEATRMNVVT
SALEASGLGP SHLDMNYVLQ QLANWQDAHY RRQLRWKMLQ KGECPHGALP AASRTSCRSS
CR*

speed

1.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999992755 (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 CM088454)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:39883350G>AN/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.1478C>T
cDNA.1488C>T
g.7547C>T

AA changes

T493M Score: 81 explain score(s)

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

493

frameshift

known variant

Reference ID: rs4523977

database	homozygous (A/A)	heterozygous	allele carriers
1000G	139	718	857
ExAC	2722	16799	19521

known disease mutation at this position, please check HGMD for details (HGMD ID CM088454)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.618	0
	-0.719	0.002
(flanking)	0.362	0.118

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

493

mutated

not conserved

493

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000002132

481

Mmusculus

all identical

ENSMUSG00000006930

435

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074508

336

Dmelanogaster

no alignment

FBgn0262872

n/a

Celegans

not conserved

T27A3.1

204

Xtropicalis

not conserved

ENSXETG00000012489

448

protein features

start (aa)	end (aa)	feature	details
261	601	COMPBIAS	Glu-rich.	lost

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

1478

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

1488

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

7547

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

39883350

original gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

original cDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered cDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

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 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 LRMSLRRMIS DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE
GLMLAADIMR GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK GECPHGALPA
ASRTSCRSSC R*

speed

0.78 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999986502 (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 CM088454)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:39883350G>AN/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.1322C>T
cDNA.1332C>T
g.7547C>T

AA changes

T441M Score: 81 explain score(s)

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

441

frameshift

known variant

Reference ID: rs4523977

database	homozygous (A/A)	heterozygous	allele carriers
1000G	139	718	857
ExAC	2722	16799	19521

known disease mutation at this position, please check HGMD for details (HGMD ID CM088454)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.618	0
	-0.719	0.002
(flanking)	0.362	0.118

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

441

mutated

not conserved

441

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000002132

478

Mmusculus

all identical

ENSMUSG00000006930

435

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074508

224

QEEISA

Dmelanogaster

no alignment

FBgn0262872

n/a

Celegans

not conserved

T27A3.1

306

Xtropicalis

no alignment

ENSXETG00000012489

n/a

protein features

start (aa)	end (aa)	feature	details
106	461	DOMAIN	HAP1 N-terminal.	lost
261	601	COMPBIAS	Glu-rich.	lost

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

1322

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

1332

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

7547

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

39883350

original gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

original cDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered cDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

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 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 MSLRRMISDP VYFMERNYEM PRGDTSSLRY DFRYSEDREQ
VRGFEAEEGL MLAADIMRGE DFTPAEEFVP QEELGAAKKV PAEEGVMEEA ELVSEETEGW
EEVELELDEA TRMNVVTSAL EASGLGPSHL DMNYVLQQLA NWQDAHYRRQ LRWKMLQKGE
CPHGALPAAS RTSCRSSCR*

speed

1.11 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999758055544 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM088454)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:39883350G>AN/A show variant in all transcripts IGV

HGNC symbol

JUP

Ensembl transcript ID

ENST00000540235

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.59834C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4523977

database	homozygous (A/A)	heterozygous	allele carriers
1000G	139	718	857
ExAC	2722	16799	19521

known disease mutation at this position, please check HGMD for details (HGMD ID CM088454)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.618	0
	-0.719	0.002
(flanking)	0.362	0.118

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

40281

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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)

59834

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

39883350

original gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT

altered gDNA sequence snippet

GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT

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

0.81 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