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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000243643
Querying Taster for transcript #2: ENST00000500065
Querying Taster for transcript #3: ENST00000448501
Querying Taster for transcript #4: ENST00000421033
Querying Taster for transcript #5: ENST00000455735
Querying Taster for transcript #6: ENST00000440291
MT speed 0 s - this script 5.749787 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF415	polymorphism_automatic	1.09117048729956e-10	simple_aae		affected		Y193C	single base exchange	rs1560099		show file
ZNF415	polymorphism_automatic	1.09117048729956e-10	simple_aae		affected		Y193C	single base exchange	rs1560099		show file
ZNF415	polymorphism_automatic	1.09117048729956e-10	simple_aae		affected		Y205C	single base exchange	rs1560099		show file
ZNF415	polymorphism_automatic	1.09117048729956e-10	simple_aae		affected		Y241C	single base exchange	rs1560099		show file
ZNF415	polymorphism_automatic	1.09117048729956e-10	simple_aae		affected		Y241C	single base exchange	rs1560099		show file
ZNF415	polymorphism_automatic	1.09117048729956e-10	simple_aae		affected		Y180C	single base exchange	rs1560099		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999890883 (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)

chr19:53612720T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF415

Ensembl transcript ID

ENST00000243643

Genbank transcript ID

NM_001164309

UniProt peptide

Q09FC8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.578A>G
cDNA.682A>G
g.23452A>G

AA changes

Y193C Score: 194 explain score(s)

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

193

frameshift

known variant

Reference ID: rs1560099

database	homozygous (C/C)	heterozygous	allele carriers
1000G	104	626	730
ExAC	2315	16726	19041

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.059	0.051
	-0.721	0.002
(flanking)	-1.11	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 gained	23446	0.91	mu: TTCTAATAAATGTGG	CTAA\|taaa

distance from splice site

442

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

193

mutated

not conserved

193

Ptroglodytes

all identical

ENSPTRG00000011420

241

Mmulatta

all identical

ENSMMUG00000010758

193

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
264	286	ZN_FING	C2H2-type 1; degenerate.	might get lost (downstream of altered splice site)
292	314	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
320	342	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
348	370	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
376	398	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
404	426	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
432	454	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
460	482	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
488	510	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
516	538	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
544	566	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
572	594	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

1772 / 1772

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

105 / 105

chromosome

strand

-1

last intron/exon boundary

241

theoretical NMD boundary in CDS

length of CDS

1668

coding sequence (CDS) position

578

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

682

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

23452

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

53612720

original gDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered gDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

original cDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered cDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

wildtype AA sequence

MAFTQLTFRD VAIEFSQDEW KCLNSTQRTL YRDVMLENYR NLVSLDLSRN CVIKELAPQQ
EGNPGEVFHT VTLEQHEKHD IEEFCFREIK KKIHDFDCQW RDDERNCNKV TTAPKENLTC
RRDQRDRRGI GNKSIKHQLG LSFLPHPHEL QQFQAEGKIY ECNHVEKSVN HGSSVSPPQI
ISSTIKTHVS NKYGTDFICS SLLTQEQKSC IREKPYRYIE CDKALNHGSH MTVRQVSHSG
EKGYKCDLCG KVFSQKSNLA RHWRVHTGEK PYKCNECDRS FSRNSCLALH RRVHTGEKPY
KCYECDKVFS RNSCLALHQK THIGEKPYTC KECGKAFSVR STLTNHQVIH SGKKPYKCNE
CGKVFSQTSS LATHQRIHTG EKPYKCNECG KVFSQTSSLA RHWRIHTGEK PYKCNECGKV
FSYNSHLASH RRVHTGEKPY KCNECGKAFS VHSNLTTHQV IHTGEKPYKC NQCGKGFSVH
SSLTTHQVIH TGEKPYKCNE CGKSFSVRPN LTRHQIIHTG KKPYKCSDCG KSFSVRPNLF
RHQIIHTKEK PYKRN*

mutated AA sequence

MAFTQLTFRD VAIEFSQDEW KCLNSTQRTL YRDVMLENYR NLVSLDLSRN CVIKELAPQQ
EGNPGEVFHT VTLEQHEKHD IEEFCFREIK KKIHDFDCQW RDDERNCNKV TTAPKENLTC
RRDQRDRRGI GNKSIKHQLG LSFLPHPHEL QQFQAEGKIY ECNHVEKSVN HGSSVSPPQI
ISSTIKTHVS NKCGTDFICS SLLTQEQKSC IREKPYRYIE CDKALNHGSH MTVRQVSHSG
EKGYKCDLCG KVFSQKSNLA RHWRVHTGEK PYKCNECDRS FSRNSCLALH RRVHTGEKPY
KCYECDKVFS RNSCLALHQK THIGEKPYTC KECGKAFSVR STLTNHQVIH SGKKPYKCNE
CGKVFSQTSS LATHQRIHTG EKPYKCNECG KVFSQTSSLA RHWRIHTGEK PYKCNECGKV
FSYNSHLASH RRVHTGEKPY KCNECGKAFS VHSNLTTHQV IHTGEKPYKC NQCGKGFSVH
SSLTTHQVIH TGEKPYKCNE CGKSFSVRPN LTRHQIIHTG KKPYKCSDCG KSFSVRPNLF
RHQIIHTKEK PYKRN*

speed

1.21 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: 0.999999999890883 (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)

chr19:53612720T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF415

Ensembl transcript ID

ENST00000500065

Genbank transcript ID

NM_001136038

UniProt peptide

Q09FC8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.578A>G
cDNA.942A>G
g.23452A>G

AA changes

Y193C Score: 194 explain score(s)

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

193

frameshift

known variant

Reference ID: rs1560099

database	homozygous (C/C)	heterozygous	allele carriers
1000G	104	626	730
ExAC	2315	16726	19041

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.059	0.051
	-0.721	0.002
(flanking)	-1.11	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 gained	23446	0.91	mu: TTCTAATAAATGTGG	CTAA\|taaa

distance from splice site

442

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

193

mutated

not conserved

193

Ptroglodytes

all identical

ENSPTRG00000011420

241

Mmulatta

all identical

ENSMMUG00000010758

193

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
264	286	ZN_FING	C2H2-type 1; degenerate.	might get lost (downstream of altered splice site)
292	314	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
320	342	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
348	370	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
376	398	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
404	426	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
432	454	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
460	482	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
488	510	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
516	538	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
544	566	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
572	594	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

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

556 / 556

position of stopcodon in wt / mu cDNA

2032 / 2032

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

365 / 365

chromosome

strand

-1

last intron/exon boundary

501

theoretical NMD boundary in CDS

length of CDS

1668

coding sequence (CDS) position

578

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

942

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

23452

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

53612720

original gDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered gDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

original cDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered cDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

wildtype AA sequence

MDGDGLTFRD VAIEFSQDEW KCLNSTQRTL YRDVMLENYR NLVSLDLSRN CVIKELAPQQ
EGNPGEVFHT VTLEQHEKHD IEEFCFREIK KKIHDFDCQW RDDERNCNKV TTAPKENLTC
RRDQRDRRGI GNKSIKHQLG LSFLPHPHEL QQFQAEGKIY ECNHVEKSVN HGSSVSPPQI
ISSTIKTHVS NKYGTDFICS SLLTQEQKSC IREKPYRYIE CDKALNHGSH MTVRQVSHSG
EKGYKCDLCG KVFSQKSNLA RHWRVHTGEK PYKCNECDRS FSRNSCLALH RRVHTGEKPY
KCYECDKVFS RNSCLALHQK THIGEKPYTC KECGKAFSVR STLTNHQVIH SGKKPYKCNE
CGKVFSQTSS LATHQRIHTG EKPYKCNECG KVFSQTSSLA RHWRIHTGEK PYKCNECGKV
FSYNSHLASH RRVHTGEKPY KCNECGKAFS VHSNLTTHQV IHTGEKPYKC NQCGKGFSVH
SSLTTHQVIH TGEKPYKCNE CGKSFSVRPN LTRHQIIHTG KKPYKCSDCG KSFSVRPNLF
RHQIIHTKEK PYKRN*

mutated AA sequence

MDGDGLTFRD VAIEFSQDEW KCLNSTQRTL YRDVMLENYR NLVSLDLSRN CVIKELAPQQ
EGNPGEVFHT VTLEQHEKHD IEEFCFREIK KKIHDFDCQW RDDERNCNKV TTAPKENLTC
RRDQRDRRGI GNKSIKHQLG LSFLPHPHEL QQFQAEGKIY ECNHVEKSVN HGSSVSPPQI
ISSTIKTHVS NKCGTDFICS SLLTQEQKSC IREKPYRYIE CDKALNHGSH MTVRQVSHSG
EKGYKCDLCG KVFSQKSNLA RHWRVHTGEK PYKCNECDRS FSRNSCLALH RRVHTGEKPY
KCYECDKVFS RNSCLALHQK THIGEKPYTC KECGKAFSVR STLTNHQVIH SGKKPYKCNE
CGKVFSQTSS LATHQRIHTG EKPYKCNECG KVFSQTSSLA RHWRIHTGEK PYKCNECGKV
FSYNSHLASH RRVHTGEKPY KCNECGKAFS VHSNLTTHQV IHTGEKPYKC NQCGKGFSVH
SSLTTHQVIH TGEKPYKCNE CGKSFSVRPN LTRHQIIHTG KKPYKCSDCG KSFSVRPNLF
RHQIIHTKEK PYKRN*

speed

0.41 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999890883 (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)

chr19:53612720T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF415

Ensembl transcript ID

ENST00000421033

Genbank transcript ID

N/A

UniProt peptide

Q09FC8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.614A>G
cDNA.783A>G
g.23452A>G

AA changes

Y205C Score: 194 explain score(s)

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

205

frameshift

known variant

Reference ID: rs1560099

database	homozygous (C/C)	heterozygous	allele carriers
1000G	104	626	730
ExAC	2315	16726	19041

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.059	0.051
	-0.721	0.002
(flanking)	-1.11	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 gained	23446	0.91	mu: TTCTAATAAATGTGG	CTAA\|taaa

distance from splice site

442

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

205

mutated

not conserved

205

Ptroglodytes

all identical

ENSPTRG00000011420

241

Mmulatta

all identical

ENSMMUG00000010758

193

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
264	286	ZN_FING	C2H2-type 1; degenerate.	might get lost (downstream of altered splice site)
292	314	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
320	342	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
348	370	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
376	398	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
404	426	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
432	454	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
460	482	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
488	510	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
516	538	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
544	566	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
572	594	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1704 / 1704

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

568 / 568

position of stopcodon in wt / mu cDNA

1873 / 1873

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

170 / 170

chromosome

strand

-1

last intron/exon boundary

342

theoretical NMD boundary in CDS

122

length of CDS

1704

coding sequence (CDS) position

614

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

783

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

23452

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

53612720

original gDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered gDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

original cDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered cDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

wildtype AA sequence

MPELYTEDFI QGCDVGELQE PGLPGLECNG AISAHCNLRL PDSNDSPASA SRVAGITDLS
RNCVIKELAP QQEGNPGEVF HTVTLEQHEK HDIEEFCFRE IKKKIHDFDC QWRDDERNCN
KVTTAPKENL TCRRDQRDRR GIGNKSIKHQ LGLSFLPHPH ELQQFQAEGK IYECNHVEKS
VNHGSSVSPP QIISSTIKTH VSNKYGTDFI CSSLLTQEQK SCIREKPYRY IECDKALNHG
SHMTVRQVSH SGEKGYKCDL CGKVFSQKSN LARHWRVHTG EKPYKCNECD RSFSRNSCLA
LHRRVHTGEK PYKCYECDKV FSRNSCLALH QKTHIGEKPY TCKECGKAFS VRSTLTNHQV
IHSGKKPYKC NECGKVFSQT SSLATHQRIH TGEKPYKCNE CGKVFSQTSS LARHWRIHTG
EKPYKCNECG KVFSYNSHLA SHRRVHTGEK PYKCNECGKA FSVHSNLTTH QVIHTGEKPY
KCNQCGKGFS VHSSLTTHQV IHTGEKPYKC NECGKSFSVR PNLTRHQIIH TGKKPYKCSD
CGKSFSVRPN LFRHQIIHTK EKPYKRN*

mutated AA sequence

MPELYTEDFI QGCDVGELQE PGLPGLECNG AISAHCNLRL PDSNDSPASA SRVAGITDLS
RNCVIKELAP QQEGNPGEVF HTVTLEQHEK HDIEEFCFRE IKKKIHDFDC QWRDDERNCN
KVTTAPKENL TCRRDQRDRR GIGNKSIKHQ LGLSFLPHPH ELQQFQAEGK IYECNHVEKS
VNHGSSVSPP QIISSTIKTH VSNKCGTDFI CSSLLTQEQK SCIREKPYRY IECDKALNHG
SHMTVRQVSH SGEKGYKCDL CGKVFSQKSN LARHWRVHTG EKPYKCNECD RSFSRNSCLA
LHRRVHTGEK PYKCYECDKV FSRNSCLALH QKTHIGEKPY TCKECGKAFS VRSTLTNHQV
IHSGKKPYKC NECGKVFSQT SSLATHQRIH TGEKPYKCNE CGKVFSQTSS LARHWRIHTG
EKPYKCNECG KVFSYNSHLA SHRRVHTGEK PYKCNECGKA FSVHSNLTTH QVIHTGEKPY
KCNQCGKGFS VHSSLTTHQV IHTGEKPYKC NECGKSFSVR PNLTRHQIIH TGKKPYKCSD
CGKSFSVRPN LFRHQIIHTK EKPYKRN*

speed

1.24 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999890883 (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)

chr19:53612720T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF415

Ensembl transcript ID

ENST00000448501

Genbank transcript ID

N/A

UniProt peptide

Q09FC8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.722A>G
cDNA.891A>G
g.23452A>G

AA changes

Y241C Score: 194 explain score(s)

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

241

frameshift

known variant

Reference ID: rs1560099

database	homozygous (C/C)	heterozygous	allele carriers
1000G	104	626	730
ExAC	2315	16726	19041

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.059	0.051
	-0.721	0.002
(flanking)	-1.11	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 gained	23446	0.91	mu: TTCTAATAAATGTGG	CTAA\|taaa

distance from splice site

442

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

241

mutated

not conserved

241

Ptroglodytes

all identical

ENSPTRG00000011420

241

Mmulatta

all identical

ENSMMUG00000010758

193

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
264	286	ZN_FING	C2H2-type 1; degenerate.	might get lost (downstream of altered splice site)
292	314	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
320	342	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
348	370	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
376	398	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
404	426	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
432	454	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
460	482	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
488	510	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
516	538	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
544	566	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
572	594	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1812 / 1812

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

604 / 604

position of stopcodon in wt / mu cDNA

1981 / 1981

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

170 / 170

chromosome

strand

-1

last intron/exon boundary

450

theoretical NMD boundary in CDS

230

length of CDS

1812

coding sequence (CDS) position

722

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

891

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

23452

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

53612720

original gDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered gDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

original cDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered cDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

wildtype AA sequence

MPELYTEDFI QGCDVGELQE PGLPGVLSYV GAQERALDHR KPSTSSKKTK RVGMDQRCEN
RLECNGAISA HCNLRLPDSN DSPASASRVA GITDLSRNCV IKELAPQQEG NPGEVFHTVT
LEQHEKHDIE EFCFREIKKK IHDFDCQWRD DERNCNKVTT APKENLTCRR DQRDRRGIGN
KSIKHQLGLS FLPHPHELQQ FQAEGKIYEC NHVEKSVNHG SSVSPPQIIS STIKTHVSNK
YGTDFICSSL LTQEQKSCIR EKPYRYIECD KALNHGSHMT VRQVSHSGEK GYKCDLCGKV
FSQKSNLARH WRVHTGEKPY KCNECDRSFS RNSCLALHRR VHTGEKPYKC YECDKVFSRN
SCLALHQKTH IGEKPYTCKE CGKAFSVRST LTNHQVIHSG KKPYKCNECG KVFSQTSSLA
THQRIHTGEK PYKCNECGKV FSQTSSLARH WRIHTGEKPY KCNECGKVFS YNSHLASHRR
VHTGEKPYKC NECGKAFSVH SNLTTHQVIH TGEKPYKCNQ CGKGFSVHSS LTTHQVIHTG
EKPYKCNECG KSFSVRPNLT RHQIIHTGKK PYKCSDCGKS FSVRPNLFRH QIIHTKEKPY
KRN*

mutated AA sequence

MPELYTEDFI QGCDVGELQE PGLPGVLSYV GAQERALDHR KPSTSSKKTK RVGMDQRCEN
RLECNGAISA HCNLRLPDSN DSPASASRVA GITDLSRNCV IKELAPQQEG NPGEVFHTVT
LEQHEKHDIE EFCFREIKKK IHDFDCQWRD DERNCNKVTT APKENLTCRR DQRDRRGIGN
KSIKHQLGLS FLPHPHELQQ FQAEGKIYEC NHVEKSVNHG SSVSPPQIIS STIKTHVSNK
CGTDFICSSL LTQEQKSCIR EKPYRYIECD KALNHGSHMT VRQVSHSGEK GYKCDLCGKV
FSQKSNLARH WRVHTGEKPY KCNECDRSFS RNSCLALHRR VHTGEKPYKC YECDKVFSRN
SCLALHQKTH IGEKPYTCKE CGKAFSVRST LTNHQVIHSG KKPYKCNECG KVFSQTSSLA
THQRIHTGEK PYKCNECGKV FSQTSSLARH WRIHTGEKPY KCNECGKVFS YNSHLASHRR
VHTGEKPYKC NECGKAFSVH SNLTTHQVIH TGEKPYKCNQ CGKGFSVHSS LTTHQVIHTG
EKPYKCNECG KSFSVRPNLT RHQIIHTGKK PYKCSDCGKS FSVRPNLFRH QIIHTKEKPY
KRN*

speed

1.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999890883 (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)

chr19:53612720T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF415

Ensembl transcript ID

ENST00000455735

Genbank transcript ID

N/A

UniProt peptide

Q09FC8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.722A>G
cDNA.1043A>G
g.23452A>G

AA changes

Y241C Score: 194 explain score(s)

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

241

frameshift

known variant

Reference ID: rs1560099

database	homozygous (C/C)	heterozygous	allele carriers
1000G	104	626	730
ExAC	2315	16726	19041

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.059	0.051
	-0.721	0.002
(flanking)	-1.11	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 gained	23446	0.91	mu: TTCTAATAAATGTGG	CTAA\|taaa

distance from splice site

442

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

241

mutated

not conserved

241

Ptroglodytes

all identical

ENSPTRG00000011420

241

Mmulatta

all identical

ENSMMUG00000010758

193

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
264	286	ZN_FING	C2H2-type 1; degenerate.	might get lost (downstream of altered splice site)
292	314	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
320	342	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
348	370	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
376	398	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
404	426	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
432	454	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
460	482	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
488	510	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
516	538	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
544	566	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
572	594	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1812 / 1812

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

604 / 604

position of stopcodon in wt / mu cDNA

2133 / 2133

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

322 / 322

chromosome

strand

-1

last intron/exon boundary

602

theoretical NMD boundary in CDS

230

length of CDS

1812

coding sequence (CDS) position

722

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

1043

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

23452

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

53612720

original gDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered gDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

original cDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered cDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

wildtype AA sequence

mutated AA sequence

MPELYTEDFI QGCDVGELQE PGLPGVLSYV GAQERALDHR KPSTSSKKTK RVGMDQRCEN
RLECNGAISA HCNLRLPDSN DSPASASRVA GITDLSRNCV IKELAPQQEG NPGEVFHTVT
LEQHEKHDIE EFCFREIKKK IHDFDCQWRD DERNCNKVTT APKENLTCRR DQRDRRGIGN
KSIKHQLGLS FLPHPHELQQ FQAEGKIYEC NHVEKSVNHG SSVSPPQIIS STIKTHVSNK
CGTDFICSSL LTQEQKSCIR EKPYRYIECD KALNHGSHMT VRQVSHSGEK GYKCDLCGKV
FSQKSNLARH WRVHTGEKPY KCNECDRSFS RNSCLALHRR VHTGEKPYKC YECDKVFSRN
SCLALHQKTH IGEKPYTCKE CGKAFSVRST LTNHQVIHSG KKPYKCNECG KVFSQTSSLA
THQRIHTGEK PYKCNECGKV FSQTSSLARH WRIHTGEKPY KCNECGKVFS YNSHLASHRR
VHTGEKPYKC NECGKAFSVH SNLTTHQVIH TGEKPYKCNQ CGKGFSVHSS LTTHQVIHTG
EKPYKCNECG KSFSVRPNLT RHQIIHTGKK PYKCSDCGKS FSVRPNLFRH QIIHTKEKPY
KRN*

speed

1.22 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999890883 (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)

chr19:53612720T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF415

Ensembl transcript ID

ENST00000440291

Genbank transcript ID

N/A

UniProt peptide

Q09FC8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.539A>G
cDNA.793A>G
g.23452A>G

AA changes

Y180C Score: 194 explain score(s)

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

180

frameshift

known variant

Reference ID: rs1560099

database	homozygous (C/C)	heterozygous	allele carriers
1000G	104	626	730
ExAC	2315	16726	19041

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.059	0.051
	-0.721	0.002
(flanking)	-1.11	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 gained	23446	0.91	mu: TTCTAATAAATGTGG	CTAA\|taaa

distance from splice site

442

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

180

mutated

not conserved

180

Ptroglodytes

all identical

ENSPTRG00000011420

241

Mmulatta

all identical

ENSMMUG00000010758

193

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
264	286	ZN_FING	C2H2-type 1; degenerate.	might get lost (downstream of altered splice site)
292	314	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
320	342	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
348	370	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
376	398	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
404	426	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
432	454	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
460	482	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
488	510	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
516	538	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
544	566	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
572	594	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1629 / 1629

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

543 / 543

position of stopcodon in wt / mu cDNA

1883 / 1883

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

255 / 255

chromosome

strand

-1

last intron/exon boundary

352

theoretical NMD boundary in CDS

length of CDS

1629

coding sequence (CDS) position

539

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

793

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

23452

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

53612720

original gDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered gDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

original cDNA sequence snippet

AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT

altered cDNA sequence snippet

AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT

wildtype AA sequence

MWEHRKEPWT IESQVRVARK PKGWEWIKGV KTDLSRNCVI KELAPQQEGN PGEVFHTVTL
EQHEKHDIEE FCFREIKKKI HDFDCQWRDD ERNCNKVTTA PKENLTCRRD QRDRRGIGNK
SIKHQLGLSF LPHPHELQQF QAEGKIYECN HVEKSVNHGS SVSPPQIISS TIKTHVSNKY
GTDFICSSLL TQEQKSCIRE KPYRYIECDK ALNHGSHMTV RQVSHSGEKG YKCDLCGKVF
SQKSNLARHW RVHTGEKPYK CNECDRSFSR NSCLALHRRV HTGEKPYKCY ECDKVFSRNS
CLALHQKTHI GEKPYTCKEC GKAFSVRSTL TNHQVIHSGK KPYKCNECGK VFSQTSSLAT
HQRIHTGEKP YKCNECGKVF SQTSSLARHW RIHTGEKPYK CNECGKVFSY NSHLASHRRV
HTGEKPYKCN ECGKAFSVHS NLTTHQVIHT GEKPYKCNQC GKGFSVHSSL TTHQVIHTGE
KPYKCNECGK SFSVRPNLTR HQIIHTGKKP YKCSDCGKSF SVRPNLFRHQ IIHTKEKPYK
RN*

mutated AA sequence

MWEHRKEPWT IESQVRVARK PKGWEWIKGV KTDLSRNCVI KELAPQQEGN PGEVFHTVTL
EQHEKHDIEE FCFREIKKKI HDFDCQWRDD ERNCNKVTTA PKENLTCRRD QRDRRGIGNK
SIKHQLGLSF LPHPHELQQF QAEGKIYECN HVEKSVNHGS SVSPPQIISS TIKTHVSNKC
GTDFICSSLL TQEQKSCIRE KPYRYIECDK ALNHGSHMTV RQVSHSGEKG YKCDLCGKVF
SQKSNLARHW RVHTGEKPYK CNECDRSFSR NSCLALHRRV HTGEKPYKCY ECDKVFSRNS
CLALHQKTHI GEKPYTCKEC GKAFSVRSTL TNHQVIHSGK KPYKCNECGK VFSQTSSLAT
HQRIHTGEKP YKCNECGKVF SQTSSLARHW RIHTGEKPYK CNECGKVFSY NSHLASHRRV
HTGEKPYKCN ECGKAFSVHS NLTTHQVIHT GEKPYKCNQC GKGFSVHSSL TTHQVIHTGE
KPYKCNECGK SFSVRPNLTR HQIIHTGKKP YKCSDCGKSF SVRPNLFRHQ IIHTKEKPYK
RN*

speed

1.15 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

mutation t@sting

Prediction

polymorphism

Problems