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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000504540
Querying Taster for transcript #2: ENST00000313434
Querying Taster for transcript #3: ENST00000511556
Querying Taster for transcript #4: ENST00000506786
Querying Taster for transcript #5: ENST00000401053
Querying Taster for transcript #6: ENST00000359978
Querying Taster for transcript #7: ENST00000439855
MT speed 0 s - this script 5.92854 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF135	polymorphism_automatic	1.60037701689708e-05	simple_aae				G34D	single base exchange	rs1469087		show file
ZNF135	polymorphism_automatic	1.60037701689708e-05	simple_aae				G22D	single base exchange	rs1469087		show file
ZNF135	polymorphism_automatic	1.60037701689708e-05	simple_aae				G22D	single base exchange	rs1469087		show file
ZNF135	polymorphism_automatic	1.60037701689708e-05	simple_aae				G34D	single base exchange	rs1469087		show file
ZNF135	polymorphism_automatic	1.60037701689708e-05	simple_aae				G34D	single base exchange	rs1469087		show file
ZNF135	polymorphism_automatic	1.60037701689708e-05	simple_aae				G22D	single base exchange	rs1469087		show file
ZNF135	polymorphism_automatic	0.999986651158361	without_aae					single base exchange	rs1469087		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999983996229831 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58572979G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF135

Ensembl transcript ID

ENST00000504540

Genbank transcript ID

N/A

UniProt peptide

P52742

alteration type

single base exchange

alteration region

CDS

DNA changes

c.101G>A
cDNA.104G>A
g.2373G>A

AA changes

G34D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs1469087

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1618	683	2301
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.468	0.839
	0.134	0.843
(flanking)	-0.065	0.86

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 marginally increased	2378	wt: 0.9789 / mu: 0.9810 (marginal change - not scored)	wt: GCTTCAGCCAGGAGG mu: ACTTCAGCCAGGAGG	TTCA\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020498

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000087839

n/a

Dmelanogaster

no alignment

FBgn0025874

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
14	85	DOMAIN	KRAB.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1200 / 1200

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

400 / 400

position of stopcodon in wt / mu cDNA

1203 / 1203

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

4 / 4

chromosome

strand

last intron/exon boundary

1109

theoretical NMD boundary in CDS

1055

length of CDS

1200

coding sequence (CDS) position

101

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

104

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

2373

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

58572979

original gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

original cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

wildtype AA sequence

MELGSRRRSV GCRCRGLCLA VRREQVTFED VVVGFSQEEW GQLKPAQRTL YRDVMLDTFR
LLVSVGHWLP KPNVISLLEQ EAELWAVESR LPQGVYPDLE TRPKVKLSVL KQGISEEISN
SVILVERFLW DGLWYCRGED TEGHWEWSCE SLESLAVPVA FTPVKTPVLE QWQRNGFGEN
ISLNPDLPHQ PMTPERQSPH TWGTRGKREK PDLNVLQKTC VKEKPYKCQE CGKAFSHSSA
LIEHHRTHTG ERPYECHECL KGFRNSSALT KHQRIHTGEK PYKCTQCGRT FNQIAPLIQH
QRTHTGEKPY ECSECGKSFS FRSSFSQHER THTGEKPYEC SECGKAFRQS IHLTQHLRIH
TGEKPYQCGT VERPLPTAPP LPSTRELTLD KPTPHVLGT*

mutated AA sequence

MELGSRRRSV GCRCRGLCLA VRREQVTFED VVVDFSQEEW GQLKPAQRTL YRDVMLDTFR
LLVSVGHWLP KPNVISLLEQ EAELWAVESR LPQGVYPDLE TRPKVKLSVL KQGISEEISN
SVILVERFLW DGLWYCRGED TEGHWEWSCE SLESLAVPVA FTPVKTPVLE QWQRNGFGEN
ISLNPDLPHQ PMTPERQSPH TWGTRGKREK PDLNVLQKTC VKEKPYKCQE CGKAFSHSSA
LIEHHRTHTG ERPYECHECL KGFRNSSALT KHQRIHTGEK PYKCTQCGRT FNQIAPLIQH
QRTHTGEKPY ECSECGKSFS FRSSFSQHER THTGEKPYEC SECGKAFRQS IHLTQHLRIH
TGEKPYQCGT VERPLPTAPP LPSTRELTLD KPTPHVLGT*

speed

0.85 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: 0.999983996229831 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58572979G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF135

Ensembl transcript ID

ENST00000313434

Genbank transcript ID

N/A

UniProt peptide

P52742

alteration type

single base exchange

alteration region

CDS

DNA changes

c.65G>A
cDNA.166G>A
g.2373G>A

AA changes

G22D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs1469087

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1618	683	2301
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.468	0.839
	0.134	0.843
(flanking)	-0.065	0.86

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 marginally increased	2378	wt: 0.9789 / mu: 0.9810 (marginal change - not scored)	wt: GCTTCAGCCAGGAGG mu: ACTTCAGCCAGGAGG	TTCA\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020498

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000087839

n/a

Dmelanogaster

no alignment

FBgn0025874

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
14	85	DOMAIN	KRAB.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1977 / 1977

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

659 / 659

position of stopcodon in wt / mu cDNA

2078 / 2078

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

102 / 102

chromosome

strand

last intron/exon boundary

358

theoretical NMD boundary in CDS

206

length of CDS

1977

coding sequence (CDS) position

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

166

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

2373

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

58572979

original gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

original cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

wildtype AA sequence

MTPGVRVSTD PEQVTFEDVV VGFSQEEWGQ LKPAQRTLYR DVMLDTFRLL VSVGHWLPKP
NVISLLEQEA ELWAVESRLP QGVYPDLETR PKVKLSVLKQ GISEEISNSV ILVERFLWDG
LWYCRGEDTE GHWEWSCESL ESLAVPVAFT PVKTPVLEQW QRNGFGENIS LNPDLPHQPM
TPERQSPHTW GTRGKREKPD LNVLQKTCVK EKPYKCQECG KAFSHSSALI EHHRTHTGER
PYECHECLKG FRNSSALTKH QRIHTGEKPY KCTQCGRTFN QIAPLIQHQR THTGEKPYEC
SECGKSFSFR SSFSQHERTH TGEKPYECSE CGKAFRQSIH LTQHLRIHTG EKPYQCGECG
KAFSHSSSLT KHQRIHTGEK PYECHECGKA FTQITPLIQH QRTHTGEKPY ECGECGKAFS
QSTLLTEHRR IHTGEKPYGC NECGKTFSHS SSLSQHERTH TGEKPYECSQ CGKAFRQSTH
LTQHQRIHTG EKPYECNDCG KAFSHSSSLT KHQRIHTGEK PYECNQCGRA FSQLAPLIQH
QRIHTGEKPY ECNQCGRAFS QSSLLIEHQR IHTKEKPYGC NECGKSFSHS SSLSQHERTH
TGEKPYECHD CGKSFRQSTH LTQHRRIHTG EKPYACRDCG KAFTHSSSLT KHQRTHTG*

mutated AA sequence

MTPGVRVSTD PEQVTFEDVV VDFSQEEWGQ LKPAQRTLYR DVMLDTFRLL VSVGHWLPKP
NVISLLEQEA ELWAVESRLP QGVYPDLETR PKVKLSVLKQ GISEEISNSV ILVERFLWDG
LWYCRGEDTE GHWEWSCESL ESLAVPVAFT PVKTPVLEQW QRNGFGENIS LNPDLPHQPM
TPERQSPHTW GTRGKREKPD LNVLQKTCVK EKPYKCQECG KAFSHSSALI EHHRTHTGER
PYECHECLKG FRNSSALTKH QRIHTGEKPY KCTQCGRTFN QIAPLIQHQR THTGEKPYEC
SECGKSFSFR SSFSQHERTH TGEKPYECSE CGKAFRQSIH LTQHLRIHTG EKPYQCGECG
KAFSHSSSLT KHQRIHTGEK PYECHECGKA FTQITPLIQH QRTHTGEKPY ECGECGKAFS
QSTLLTEHRR IHTGEKPYGC NECGKTFSHS SSLSQHERTH TGEKPYECSQ CGKAFRQSTH
LTQHQRIHTG EKPYECNDCG KAFSHSSSLT KHQRIHTGEK PYECNQCGRA FSQLAPLIQH
QRIHTGEKPY ECNQCGRAFS QSSLLIEHQR IHTKEKPYGC NECGKSFSHS SSLSQHERTH
TGEKPYECHD CGKSFRQSTH LTQHRRIHTG EKPYACRDCG KAFTHSSSLT KHQRTHTG*

speed

1.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999983996229831 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58572979G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF135

Ensembl transcript ID

ENST00000511556

Genbank transcript ID

NM_003436

UniProt peptide

P52742

alteration type

single base exchange

alteration region

CDS

DNA changes

c.65G>A
cDNA.136G>A
g.2373G>A

AA changes

G22D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs1469087

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1618	683	2301
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.468	0.839
	0.134	0.843
(flanking)	-0.065	0.86

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 marginally increased	2378	wt: 0.9789 / mu: 0.9810 (marginal change - not scored)	wt: GCTTCAGCCAGGAGG mu: ACTTCAGCCAGGAGG	TTCA\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020498

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000087839

n/a

Dmelanogaster

no alignment

FBgn0025874

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
14	85	DOMAIN	KRAB.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2013 / 2013

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

671 / 671

position of stopcodon in wt / mu cDNA

2084 / 2084

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

72 / 72

chromosome

strand

last intron/exon boundary

328

theoretical NMD boundary in CDS

206

length of CDS

2013

coding sequence (CDS) position

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

136

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

2373

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

58572979

original gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

original cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

wildtype AA sequence

MTPGVRVSTD PEQVTFEDVV VGFSQEEWGQ LKPAQRTLYR DVMLDTFRLL VSVGHWLPKP
NVISLLEQEA ELWAVESRLP QGVYPEIKGH FQFLLLSDLE TRPKVKLSVL KQGISEEISN
SVILVERFLW DGLWYCRGED TEGHWEWSCE SLESLAVPVA FTPVKTPVLE QWQRNGFGEN
ISLNPDLPHQ PMTPERQSPH TWGTRGKREK PDLNVLQKTC VKEKPYKCQE CGKAFSHSSA
LIEHHRTHTG ERPYECHECL KGFRNSSALT KHQRIHTGEK PYKCTQCGRT FNQIAPLIQH
QRTHTGEKPY ECSECGKSFS FRSSFSQHER THTGEKPYEC SECGKAFRQS IHLTQHLRIH
TGEKPYQCGE CGKAFSHSSS LTKHQRIHTG EKPYECHECG KAFTQITPLI QHQRTHTGEK
PYECGECGKA FSQSTLLTEH RRIHTGEKPY GCNECGKTFS HSSSLSQHER THTGEKPYEC
SQCGKAFRQS THLTQHQRIH TGEKPYECND CGKAFSHSSS LTKHQRIHTG EKPYECNQCG
RAFSQLAPLI QHQRIHTGEK PYECNQCGRA FSQSSLLIEH QRIHTKEKPY GCNECGKSFS
HSSSLSQHER THTGEKPYEC HDCGKSFRQS THLTQHRRIH TGEKPYACRD CGKAFTHSSS
LTKHQRTHTG *

mutated AA sequence

MTPGVRVSTD PEQVTFEDVV VDFSQEEWGQ LKPAQRTLYR DVMLDTFRLL VSVGHWLPKP
NVISLLEQEA ELWAVESRLP QGVYPEIKGH FQFLLLSDLE TRPKVKLSVL KQGISEEISN
SVILVERFLW DGLWYCRGED TEGHWEWSCE SLESLAVPVA FTPVKTPVLE QWQRNGFGEN
ISLNPDLPHQ PMTPERQSPH TWGTRGKREK PDLNVLQKTC VKEKPYKCQE CGKAFSHSSA
LIEHHRTHTG ERPYECHECL KGFRNSSALT KHQRIHTGEK PYKCTQCGRT FNQIAPLIQH
QRTHTGEKPY ECSECGKSFS FRSSFSQHER THTGEKPYEC SECGKAFRQS IHLTQHLRIH
TGEKPYQCGE CGKAFSHSSS LTKHQRIHTG EKPYECHECG KAFTQITPLI QHQRTHTGEK
PYECGECGKA FSQSTLLTEH RRIHTGEKPY GCNECGKTFS HSSSLSQHER THTGEKPYEC
SQCGKAFRQS THLTQHQRIH TGEKPYECND CGKAFSHSSS LTKHQRIHTG EKPYECNQCG
RAFSQLAPLI QHQRIHTGEK PYECNQCGRA FSQSSLLIEH QRIHTKEKPY GCNECGKSFS
HSSSLSQHER THTGEKPYEC HDCGKSFRQS THLTQHRRIH TGEKPYACRD CGKAFTHSSS
LTKHQRTHTG *

speed

1.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999983996229831 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58572979G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF135

Ensembl transcript ID

ENST00000401053

Genbank transcript ID

NM_007134

UniProt peptide

P52742

alteration type

single base exchange

alteration region

CDS

DNA changes

c.101G>A
cDNA.104G>A
g.2373G>A

AA changes

G34D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs1469087

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1618	683	2301
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.468	0.839
	0.134	0.843
(flanking)	-0.065	0.86

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 marginally increased	2378	wt: 0.9789 / mu: 0.9810 (marginal change - not scored)	wt: GCTTCAGCCAGGAGG mu: ACTTCAGCCAGGAGG	TTCA\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020498

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000087839

n/a

Dmelanogaster

no alignment

FBgn0025874

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
14	85	DOMAIN	KRAB.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2049 / 2049

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

683 / 683

position of stopcodon in wt / mu cDNA

2052 / 2052

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

4 / 4

chromosome

strand

last intron/exon boundary

296

theoretical NMD boundary in CDS

242

length of CDS

2049

coding sequence (CDS) position

101

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

104

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

2373

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

58572979

original gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

original cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

wildtype AA sequence

MELGSRRRSV GCRCRGLCLA VRREQVTFED VVVGFSQEEW GQLKPAQRTL YRDVMLDTFR
LLVSVGHWLP KPNVISLLEQ EAELWAVESR LPQGVYPEIK GHFQFLLLSD LETRPKVKLS
VLKQGISEEI SNSVILVERF LWDGLWYCRG EDTEGHWEWS CESLESLAVP VAFTPVKTPV
LEQWQRNGFG ENISLNPDLP HQPMTPERQS PHTWGTRGKR EKPDLNVLQK TCVKEKPYKC
QECGKAFSHS SALIEHHRTH TGERPYECHE CLKGFRNSSA LTKHQRIHTG EKPYKCTQCG
RTFNQIAPLI QHQRTHTGEK PYECSECGKS FSFRSSFSQH ERTHTGEKPY ECSECGKAFR
QSIHLTQHLR IHTGEKPYQC GECGKAFSHS SSLTKHQRIH TGEKPYECHE CGKAFTQITP
LIQHQRTHTG EKPYECGECG KAFSQSTLLT EHRRIHTGEK PYGCNECGKT FSHSSSLSQH
ERTHTGEKPY ECSQCGKAFR QSTHLTQHQR IHTGEKPYEC NDCGKAFSHS SSLTKHQRIH
TGEKPYECNQ CGRAFSQLAP LIQHQRIHTG EKPYECNQCG RAFSQSSLLI EHQRIHTKEK
PYGCNECGKS FSHSSSLSQH ERTHTGEKPY ECHDCGKSFR QSTHLTQHRR IHTGEKPYAC
RDCGKAFTHS SSLTKHQRTH TG*

mutated AA sequence

MELGSRRRSV GCRCRGLCLA VRREQVTFED VVVDFSQEEW GQLKPAQRTL YRDVMLDTFR
LLVSVGHWLP KPNVISLLEQ EAELWAVESR LPQGVYPEIK GHFQFLLLSD LETRPKVKLS
VLKQGISEEI SNSVILVERF LWDGLWYCRG EDTEGHWEWS CESLESLAVP VAFTPVKTPV
LEQWQRNGFG ENISLNPDLP HQPMTPERQS PHTWGTRGKR EKPDLNVLQK TCVKEKPYKC
QECGKAFSHS SALIEHHRTH TGERPYECHE CLKGFRNSSA LTKHQRIHTG EKPYKCTQCG
RTFNQIAPLI QHQRTHTGEK PYECSECGKS FSFRSSFSQH ERTHTGEKPY ECSECGKAFR
QSIHLTQHLR IHTGEKPYQC GECGKAFSHS SSLTKHQRIH TGEKPYECHE CGKAFTQITP
LIQHQRTHTG EKPYECGECG KAFSQSTLLT EHRRIHTGEK PYGCNECGKT FSHSSSLSQH
ERTHTGEKPY ECSQCGKAFR QSTHLTQHQR IHTGEKPYEC NDCGKAFSHS SSLTKHQRIH
TGEKPYECNQ CGRAFSQLAP LIQHQRIHTG EKPYECNQCG RAFSQSSLLI EHQRIHTKEK
PYGCNECGKS FSHSSSLSQH ERTHTGEKPY ECHDCGKSFR QSTHLTQHRR IHTGEKPYAC
RDCGKAFTHS SSLTKHQRTH TG*

speed

1.16 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999983996229831 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58572979G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF135

Ensembl transcript ID

ENST00000359978

Genbank transcript ID

NM_001164530

UniProt peptide

P52742

alteration type

single base exchange

alteration region

CDS

DNA changes

c.101G>A
cDNA.104G>A
g.2373G>A

AA changes

G34D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs1469087

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1618	683	2301
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.468	0.839
	0.134	0.843
(flanking)	-0.065	0.86

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 marginally increased	2378	wt: 0.9789 / mu: 0.9810 (marginal change - not scored)	wt: GCTTCAGCCAGGAGG mu: ACTTCAGCCAGGAGG	TTCA\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020498

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000087839

n/a

Dmelanogaster

no alignment

FBgn0025874

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
14	85	DOMAIN	KRAB.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1173 / 1173

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

391 / 391

position of stopcodon in wt / mu cDNA

1176 / 1176

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

4 / 4

chromosome

strand

last intron/exon boundary

1123

theoretical NMD boundary in CDS

1069

length of CDS

1173

coding sequence (CDS) position

101

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

104

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

2373

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

58572979

original gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

original cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

wildtype AA sequence

mutated AA sequence

speed

1.27 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999983996229831 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58572979G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF135

Ensembl transcript ID

ENST00000439855

Genbank transcript ID

N/A

UniProt peptide

P52742

alteration type

single base exchange

alteration region

CDS

DNA changes

c.65G>A
cDNA.166G>A
g.2373G>A

AA changes

G22D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs1469087

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1618	683	2301
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.468	0.839
	0.134	0.843
(flanking)	-0.065	0.86

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 marginally increased	2378	wt: 0.9789 / mu: 0.9810 (marginal change - not scored)	wt: GCTTCAGCCAGGAGG mu: ACTTCAGCCAGGAGG	TTCA\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000020498

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000087839

n/a

Dmelanogaster

no alignment

FBgn0025874

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
14	85	DOMAIN	KRAB.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1977 / 1977

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

659 / 659

position of stopcodon in wt / mu cDNA

2078 / 2078

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

102 / 102

chromosome

strand

last intron/exon boundary

358

theoretical NMD boundary in CDS

206

length of CDS

1977

coding sequence (CDS) position

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

166

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

2373

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

58572979

original gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

original cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

wildtype AA sequence

mutated AA sequence

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.33488416388006e-05 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58572979G>AN/A show variant in all transcripts IGV

HGNC symbol

ZNF135

Ensembl transcript ID

ENST00000506786

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.493G>A
g.2373G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1469087

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1618	683	2301
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.468	0.839
	0.134	0.843
(flanking)	-0.065	0.86

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 marginally increased	2378	wt: 0.9789 / mu: 0.9810 (marginal change - not scored)	wt: GCTTCAGCCAGGAGG mu: ACTTCAGCCAGGAGG	TTCA\|gcca

distance from splice site

Kozak consensus sequence altered?

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

555 / 555

chromosome

strand

last intron/exon boundary

685

theoretical NMD boundary in CDS

length of CDS

1851

coding sequence (CDS) position

N/A

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

493

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

2373

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

58572979

original gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered gDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

original cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG

altered cDNA sequence snippet

GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG

wildtype AA sequence

MLDTFRLLVS VGHWLPKPNV ISLLEQEAEL WAVESRLPQG VYPDLETRPK VKLSVLKQGI
SEEISNSVIL VERFLWDGLW YCRGEDTEGH WEWSCESLES LAVPVAFTPV KTPVLEQWQR
NGFGENISLN PDLPHQPMTP ERQSPHTWGT RGKREKPDLN VLQKTCVKEK PYKCQECGKA
FSHSSALIEH HRTHTGERPY ECHECLKGFR NSSALTKHQR IHTGEKPYKC TQCGRTFNQI
APLIQHQRTH TGEKPYECSE CGKSFSFRSS FSQHERTHTG EKPYECSECG KAFRQSIHLT
QHLRIHTGEK PYQCGECGKA FSHSSSLTKH QRIHTGEKPY ECHECGKAFT QITPLIQHQR
THTGEKPYEC GECGKAFSQS TLLTEHRRIH TGEKPYGCNE CGKTFSHSSS LSQHERTHTG
EKPYECSQCG KAFRQSTHLT QHQRIHTGEK PYECNDCGKA FSHSSSLTKH QRIHTGEKPY
ECNQCGRAFS QLAPLIQHQR IHTGEKPYEC NQCGRAFSQS SLLIEHQRIH TKEKPYGCNE
CGKSFSHSSS LSQHERTHTG EKPYECHDCG KSFRQSTHLT QHRRIHTGEK PYACRDCGKA
FTHSSSLTKH QRTHTG*

mutated AA sequence

N/A

speed

0.66 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

mutation t@sting

Prediction

polymorphism

Problems