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: ENST00000306006
Querying Taster for transcript #2: ENST00000374446
Querying Taster for transcript #3: ENST00000426961
Querying Taster for transcript #4: ENST00000535642
Querying Taster for transcript #5: ENST00000339962
MT speed 0 s - this script 4.069316 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF239	polymorphism_automatic	0.843083802433733	simple_aae		affected		C209G	single base exchange	rs2230661		show file
ZNF239	polymorphism_automatic	0.843083802433733	simple_aae		affected		C209G	single base exchange	rs2230661		show file
ZNF239	polymorphism_automatic	0.843083802433733	simple_aae		affected		C209G	single base exchange	rs2230661		show file
ZNF239	polymorphism_automatic	0.843083802433733	simple_aae		affected		C209G	single base exchange	rs2230661		show file
ZNF239	polymorphism_automatic	0.843083802433733	simple_aae		affected		C209G	single base exchange	rs2230661		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.156916197566267 (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)

chr10:44052903A>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF239

Ensembl transcript ID

ENST00000306006

Genbank transcript ID

NM_005674

UniProt peptide

Q16600

alteration type

single base exchange

alteration region

CDS

DNA changes

c.625T>G
cDNA.1278T>G
g.17164T>G

AA changes

C209G Score: 159 explain score(s)

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

209

frameshift

known variant

Reference ID: rs2230661

database	homozygous (C/C)	heterozygous	allele carriers
1000G	779	1171	1950
ExAC	18845	-4923	13922

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.958	0.992
	2.61	0.974
(flanking)	-0.752	0.001

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	17155	wt: 0.21 / mu: 0.31	wt: AGAAACAATACGAAT mu: AGAAACAATACGAAG	AAAC\|aata
Donor gained	17163	0.71	mu: TACGAAGGTAGTCAG	CGAA\|ggta
Donor gained	17158	0.96	mu: AACAATACGAAGGTA	CAAT\|acga

distance from splice site

717

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

209

mutated

not conserved

209

Ptroglodytes

all identical

ENSPTRG00000022725

209

Mmulatta

all identical

ENSMMUG00000022433

209

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000042097

n/a

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
207	229	ZN_FING	C2H2-type 1.	lost
235	257	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
263	285	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
291	313	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
319	341	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
340	340	CONFLICT	V -> D (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)
347	369	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
375	397	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
403	425	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
431	453	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
448	448	CONFLICT	I -> S (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1377 / 1377

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

459 / 459

position of stopcodon in wt / mu cDNA

2030 / 2030

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

654 / 654

chromosome

strand

-1

last intron/exon boundary

562

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1377

coding sequence (CDS) position

625

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

1278

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

17164

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

44052903

original gDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered gDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

original cDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered cDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

wildtype AA sequence

MASTITGSQD CIVNHRGEVD GEPELDISPC QQWGEASSPI SRNRDSVMTL QSGCFENIES
ETYLPLKVSS QIDTQDSSVK FCKNEPQDHQ ESRRLFVMEE STERKVIKGE SCSENLQVKL
VSDGQELASP LLNGEATCQN GQLKESLDPI DCNCKDIHGW KSQVVSCSQQ RAHTEEKPCD
HNNCGKILNT SPDGHPYEKI HTAEKQYECS QCGKNFSQSS ELLLHQRDHT EEKPYKCEQC
GKGFTRSSSL LIHQAVHTDE KPYKCDKCGK GFTRSSSLLI HHAVHTGEKP YKCDKCGKGF
SQSSKLHIHQ RVHTGEKPYE CEECGMSFSQ RSNLHIHQRV HTGERPYKCG ECGKGFSQSS
NLHIHRCIHT GEKPYQCYEC GKGFSQSSDL RIHLRVHTGE KPYHCGKCGK GFSQSSKLLI
HQRVHTGEKP YECSKCGKGF SQSSNLHIHQ RVHKKDPR*

mutated AA sequence

MASTITGSQD CIVNHRGEVD GEPELDISPC QQWGEASSPI SRNRDSVMTL QSGCFENIES
ETYLPLKVSS QIDTQDSSVK FCKNEPQDHQ ESRRLFVMEE STERKVIKGE SCSENLQVKL
VSDGQELASP LLNGEATCQN GQLKESLDPI DCNCKDIHGW KSQVVSCSQQ RAHTEEKPCD
HNNCGKILNT SPDGHPYEKI HTAEKQYEGS QCGKNFSQSS ELLLHQRDHT EEKPYKCEQC
GKGFTRSSSL LIHQAVHTDE KPYKCDKCGK GFTRSSSLLI HHAVHTGEKP YKCDKCGKGF
SQSSKLHIHQ RVHTGEKPYE CEECGMSFSQ RSNLHIHQRV HTGERPYKCG ECGKGFSQSS
NLHIHRCIHT GEKPYQCYEC GKGFSQSSDL RIHLRVHTGE KPYHCGKCGK GFSQSSKLLI
HQRVHTGEKP YECSKCGKGF SQSSNLHIHQ RVHKKDPR*

speed

0.83 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: 0.156916197566267 (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)

chr10:44052903A>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF239

Ensembl transcript ID

ENST00000374446

Genbank transcript ID

N/A

UniProt peptide

Q16600

alteration type

single base exchange

alteration region

CDS

DNA changes

c.625T>G
cDNA.928T>G
g.17164T>G

AA changes

C209G Score: 159 explain score(s)

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

209

frameshift

known variant

Reference ID: rs2230661

database	homozygous (C/C)	heterozygous	allele carriers
1000G	779	1171	1950
ExAC	18845	-4923	13922

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.958	0.992
	2.61	0.974
(flanking)	-0.752	0.001

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	17155	wt: 0.21 / mu: 0.31	wt: AGAAACAATACGAAT mu: AGAAACAATACGAAG	AAAC\|aata
Donor gained	17163	0.71	mu: TACGAAGGTAGTCAG	CGAA\|ggta
Donor gained	17158	0.96	mu: AACAATACGAAGGTA	CAAT\|acga

distance from splice site

717

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

209

mutated

not conserved

209

Ptroglodytes

all identical

ENSPTRG00000022725

209

Mmulatta

all identical

ENSMMUG00000022433

209

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000042097

n/a

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
207	229	ZN_FING	C2H2-type 1.	lost
235	257	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
263	285	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
291	313	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
319	341	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
340	340	CONFLICT	V -> D (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)
347	369	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
375	397	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
403	425	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
431	453	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
448	448	CONFLICT	I -> S (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1377 / 1377

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

459 / 459

position of stopcodon in wt / mu cDNA

1680 / 1680

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

304 / 304

chromosome

strand

-1

last intron/exon boundary

212

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1377

coding sequence (CDS) position

625

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

928

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

17164

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

44052903

original gDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered gDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

original cDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered cDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

wildtype AA sequence

mutated AA sequence

MASTITGSQD CIVNHRGEVD GEPELDISPC QQWGEASSPI SRNRDSVMTL QSGCFENIES
ETYLPLKVSS QIDTQDSSVK FCKNEPQDHQ ESRRLFVMEE STERKVIKGE SCSENLQVKL
VSDGQELASP LLNGEATCQN GQLKESLDPI DCNCKDIHGW KSQVVSCSQQ RAHTEEKPCD
HNNCGKILNT SPDGHPYEKI HTAEKQYEGS QCGKNFSQSS ELLLHQRDHT EEKPYKCEQC
GKGFTRSSSL LIHQAVHTDE KPYKCDKCGK GFTRSSSLLI HHAVHTGEKP YKCDKCGKGF
SQSSKLHIHQ RVHTGEKPYE CEECGMSFSQ RSNLHIHQRV HTGERPYKCG ECGKGFSQSS
NLHIHRCIHT GEKPYQCYEC GKGFSQSSDL RIHLRVHTGE KPYHCGKCGK GFSQSSKLLI
HQRVHTGEKP YECSKCGKGF SQSSNLHIHQ RVHKKDPR*

speed

0.62 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.156916197566267 (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)

chr10:44052903A>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF239

Ensembl transcript ID

ENST00000426961

Genbank transcript ID

NM_001099284

UniProt peptide

Q16600

alteration type

single base exchange

alteration region

CDS

DNA changes

c.625T>G
cDNA.919T>G
g.17164T>G

AA changes

C209G Score: 159 explain score(s)

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

209

frameshift

known variant

Reference ID: rs2230661

database	homozygous (C/C)	heterozygous	allele carriers
1000G	779	1171	1950
ExAC	18845	-4923	13922

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.958	0.992
	2.61	0.974
(flanking)	-0.752	0.001

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	17155	wt: 0.21 / mu: 0.31	wt: AGAAACAATACGAAT mu: AGAAACAATACGAAG	AAAC\|aata
Donor gained	17163	0.71	mu: TACGAAGGTAGTCAG	CGAA\|ggta
Donor gained	17158	0.96	mu: AACAATACGAAGGTA	CAAT\|acga

distance from splice site

717

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

209

mutated

not conserved

209

Ptroglodytes

all identical

ENSPTRG00000022725

209

Mmulatta

all identical

ENSMMUG00000022433

209

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000042097

n/a

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
207	229	ZN_FING	C2H2-type 1.	lost
235	257	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
263	285	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
291	313	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
319	341	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
340	340	CONFLICT	V -> D (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)
347	369	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
375	397	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
403	425	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
431	453	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
448	448	CONFLICT	I -> S (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1377 / 1377

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

459 / 459

position of stopcodon in wt / mu cDNA

1671 / 1671

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

295 / 295

chromosome

strand

-1

last intron/exon boundary

203

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1377

coding sequence (CDS) position

625

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

919

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

17164

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

44052903

original gDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered gDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

original cDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered cDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

wildtype AA sequence

mutated AA sequence

MASTITGSQD CIVNHRGEVD GEPELDISPC QQWGEASSPI SRNRDSVMTL QSGCFENIES
ETYLPLKVSS QIDTQDSSVK FCKNEPQDHQ ESRRLFVMEE STERKVIKGE SCSENLQVKL
VSDGQELASP LLNGEATCQN GQLKESLDPI DCNCKDIHGW KSQVVSCSQQ RAHTEEKPCD
HNNCGKILNT SPDGHPYEKI HTAEKQYEGS QCGKNFSQSS ELLLHQRDHT EEKPYKCEQC
GKGFTRSSSL LIHQAVHTDE KPYKCDKCGK GFTRSSSLLI HHAVHTGEKP YKCDKCGKGF
SQSSKLHIHQ RVHTGEKPYE CEECGMSFSQ RSNLHIHQRV HTGERPYKCG ECGKGFSQSS
NLHIHRCIHT GEKPYQCYEC GKGFSQSSDL RIHLRVHTGE KPYHCGKCGK GFSQSSKLLI
HQRVHTGEKP YECSKCGKGF SQSSNLHIHQ RVHKKDPR*

speed

0.59 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.156916197566267 (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)

chr10:44052903A>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF239

Ensembl transcript ID

ENST00000535642

Genbank transcript ID

NM_001099283

UniProt peptide

Q16600

alteration type

single base exchange

alteration region

CDS

DNA changes

c.625T>G
cDNA.796T>G
g.17164T>G

AA changes

C209G Score: 159 explain score(s)

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

209

frameshift

known variant

Reference ID: rs2230661

database	homozygous (C/C)	heterozygous	allele carriers
1000G	779	1171	1950
ExAC	18845	-4923	13922

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.958	0.992
	2.61	0.974
(flanking)	-0.752	0.001

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	17155	wt: 0.21 / mu: 0.31	wt: AGAAACAATACGAAT mu: AGAAACAATACGAAG	AAAC\|aata
Donor gained	17163	0.71	mu: TACGAAGGTAGTCAG	CGAA\|ggta
Donor gained	17158	0.96	mu: AACAATACGAAGGTA	CAAT\|acga

distance from splice site

717

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

209

mutated

not conserved

209

Ptroglodytes

all identical

ENSPTRG00000022725

209

Mmulatta

all identical

ENSMMUG00000022433

209

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000042097

n/a

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
207	229	ZN_FING	C2H2-type 1.	lost
235	257	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
263	285	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
291	313	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
319	341	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
340	340	CONFLICT	V -> D (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)
347	369	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
375	397	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
403	425	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
431	453	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
448	448	CONFLICT	I -> S (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1377 / 1377

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

459 / 459

position of stopcodon in wt / mu cDNA

1548 / 1548

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

172 / 172

chromosome

strand

-1

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1377

coding sequence (CDS) position

625

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

796

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

17164

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

44052903

original gDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered gDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

original cDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered cDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

wildtype AA sequence

mutated AA sequence

MASTITGSQD CIVNHRGEVD GEPELDISPC QQWGEASSPI SRNRDSVMTL QSGCFENIES
ETYLPLKVSS QIDTQDSSVK FCKNEPQDHQ ESRRLFVMEE STERKVIKGE SCSENLQVKL
VSDGQELASP LLNGEATCQN GQLKESLDPI DCNCKDIHGW KSQVVSCSQQ RAHTEEKPCD
HNNCGKILNT SPDGHPYEKI HTAEKQYEGS QCGKNFSQSS ELLLHQRDHT EEKPYKCEQC
GKGFTRSSSL LIHQAVHTDE KPYKCDKCGK GFTRSSSLLI HHAVHTGEKP YKCDKCGKGF
SQSSKLHIHQ RVHTGEKPYE CEECGMSFSQ RSNLHIHQRV HTGERPYKCG ECGKGFSQSS
NLHIHRCIHT GEKPYQCYEC GKGFSQSSDL RIHLRVHTGE KPYHCGKCGK GFSQSSKLLI
HQRVHTGEKP YECSKCGKGF SQSSNLHIHQ RVHKKDPR*

speed

0.61 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.156916197566267 (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)

chr10:44052903A>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF239

Ensembl transcript ID

ENST00000339962

Genbank transcript ID

NM_001099282

UniProt peptide

Q16600

alteration type

single base exchange

alteration region

CDS

DNA changes

c.625T>G
cDNA.959T>G
g.17164T>G

AA changes

C209G Score: 159 explain score(s)

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

209

frameshift

known variant

Reference ID: rs2230661

database	homozygous (C/C)	heterozygous	allele carriers
1000G	779	1171	1950
ExAC	18845	-4923	13922

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.958	0.992
	2.61	0.974
(flanking)	-0.752	0.001

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	17155	wt: 0.21 / mu: 0.31	wt: AGAAACAATACGAAT mu: AGAAACAATACGAAG	AAAC\|aata
Donor gained	17163	0.71	mu: TACGAAGGTAGTCAG	CGAA\|ggta
Donor gained	17158	0.96	mu: AACAATACGAAGGTA	CAAT\|acga

distance from splice site

717

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

209

mutated

not conserved

209

Ptroglodytes

all identical

ENSPTRG00000022725

209

Mmulatta

all identical

ENSMMUG00000022433

209

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000042097

n/a

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
207	229	ZN_FING	C2H2-type 1.	lost
235	257	ZN_FING	C2H2-type 2.	might get lost (downstream of altered splice site)
263	285	ZN_FING	C2H2-type 3.	might get lost (downstream of altered splice site)
291	313	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
319	341	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
340	340	CONFLICT	V -> D (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)
347	369	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
375	397	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
403	425	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
431	453	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
448	448	CONFLICT	I -> S (in Ref. 1; CAA57637/CAA57638).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1377 / 1377

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

459 / 459

position of stopcodon in wt / mu cDNA

1711 / 1711

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

335 / 335

chromosome

strand

-1

last intron/exon boundary

243

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1377

coding sequence (CDS) position

625

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

959

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

17164

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

44052903

original gDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered gDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

original cDNA sequence snippet

CTGCAGAGAAACAATACGAATGTAGTCAGTGTGGTAAGAAC

altered cDNA sequence snippet

CTGCAGAGAAACAATACGAAGGTAGTCAGTGTGGTAAGAAC

wildtype AA sequence

mutated AA sequence

MASTITGSQD CIVNHRGEVD GEPELDISPC QQWGEASSPI SRNRDSVMTL QSGCFENIES
ETYLPLKVSS QIDTQDSSVK FCKNEPQDHQ ESRRLFVMEE STERKVIKGE SCSENLQVKL
VSDGQELASP LLNGEATCQN GQLKESLDPI DCNCKDIHGW KSQVVSCSQQ RAHTEEKPCD
HNNCGKILNT SPDGHPYEKI HTAEKQYEGS QCGKNFSQSS ELLLHQRDHT EEKPYKCEQC
GKGFTRSSSL LIHQAVHTDE KPYKCDKCGK GFTRSSSLLI HHAVHTGEKP YKCDKCGKGF
SQSSKLHIHQ RVHTGEKPYE CEECGMSFSQ RSNLHIHQRV HTGERPYKCG ECGKGFSQSS
NLHIHRCIHT GEKPYQCYEC GKGFSQSSDL RIHLRVHTGE KPYHCGKCGK GFSQSSKLLI
HQRVHTGEKP YECSKCGKGF SQSSNLHIHQ RVHKKDPR*

speed

0.54 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