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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000347302
Querying Taster for transcript #2: ENST00000254182
Querying Taster for transcript #3: ENST00000391703
Querying Taster for transcript #4: ENST00000299871
Querying Taster for transcript #5: ENST00000240731
Querying Taster for transcript #6: ENST00000420680
Querying Taster for transcript #7: ENST00000544273
Querying Taster for transcript #8: ENST00000541801
MT speed 0 s - this script 6.603113 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ZNF211	polymorphism_automatic	9.99200722162641e-15	simple_aae				I88T	single base exchange	rs4801508		show file
ZNF211	polymorphism_automatic	6.3948846218409e-14	simple_aae				I14T	single base exchange	rs4801508		show file
ZNF211	polymorphism_automatic	6.3948846218409e-14	simple_aae				I14T	single base exchange	rs4801508		show file
ZNF211	polymorphism_automatic	7.32773459688474e-08	without_aae					single base exchange	rs4801508		show file
ZNF211	polymorphism_automatic	7.32773459688474e-08	without_aae					single base exchange	rs4801508		show file
ZNF211	polymorphism_automatic	7.32773459688474e-08	without_aae					single base exchange	rs4801508		show file
ZNF211	polymorphism_automatic	7.32773459688474e-08	without_aae					single base exchange	rs4801508		show file
ZNF211	polymorphism_automatic	7.32773459688474e-08	without_aae					single base exchange	rs4801508		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999999 (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)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000299871

Genbank transcript ID

NM_001265597

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.263T>C
cDNA.394T>C
g.9526T>C

AA changes

I88T Score: 89 explain score(s)

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

frameshift

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

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)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	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
Acc marginally decreased	9519	wt: 0.9894 / mu: 0.9882 (marginal change - not scored)	wt: CATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCT mu: CATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCT	ttag\|GACT
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC
Acc marginally increased	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT

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

not conserved

ENSPTRG00000011565

Mmulatta

not conserved

ENSMMUG00000005333

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
33	106	DOMAIN	KRAB.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1890 / 1890

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

630 / 630

position of stopcodon in wt / mu cDNA

2021 / 2021

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

132 / 132

chromosome

strand

last intron/exon boundary

544

theoretical NMD boundary in CDS

362

length of CDS

1890

coding sequence (CDS) position

263

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

394

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

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

TACGTCCTCCCTGGGACTTATATCATCCTGGTCTCATGTAG

altered cDNA sequence snippet

TACGTCCTCCCTGGGACTTACATCATCCTGGTCTCATGTAG

wildtype AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGLISS WSHVVAQLGL GEVPSVLHRM FMTPASARWD
QRGPGLHEWH LGKGMSSGCW CGVEHEETPS EQRISGERVP QFRTSKEGSS SQNADSCEIC
CLVLRDILHL AEHQGTNCGQ KLHTCGKQFY ISANLQQHQR QHITEAPFRS YVDTASFTQS
CIVHVSEKPF TCREIRKDFL ANMRFLHQDA TQTGEKPNNS NKCAVAFYSG KSHHNWGKCS
KAFSHIDTLV QDQRILTREG LFECSKCGKA CTRRCNLIQH QKVHSEERPY ECNECGKFFT
YYSSFIIHQR VHTGERPYAC PECGKSFSQI YSLNSHRKVH TGERPYECGE CGKSFSQRSN
LMQHRRVHTG ERPYECSECG KSFSQNFSLI YHQRVHTGER PHECNECGKS FSRSSSLIHH
RRLHTGERPY ECSKCGKSFK QSSSFSSHRK VHTGERPYVC GECGKSFSHS SNLKNHQRVH
TGERPVECSE CSKSFSCKSN LIKHLRVHTG ERPYECSECG KSFSQSSSLI QHRRVHTGKR
PYQCSQCGKS FGCKSVLIQH QRVHIGEKP*

mutated AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGLTSS WSHVVAQLGL GEVPSVLHRM FMTPASARWD
QRGPGLHEWH LGKGMSSGCW CGVEHEETPS EQRISGERVP QFRTSKEGSS SQNADSCEIC
CLVLRDILHL AEHQGTNCGQ KLHTCGKQFY ISANLQQHQR QHITEAPFRS YVDTASFTQS
CIVHVSEKPF TCREIRKDFL ANMRFLHQDA TQTGEKPNNS NKCAVAFYSG KSHHNWGKCS
KAFSHIDTLV QDQRILTREG LFECSKCGKA CTRRCNLIQH QKVHSEERPY ECNECGKFFT
YYSSFIIHQR VHTGERPYAC PECGKSFSQI YSLNSHRKVH TGERPYECGE CGKSFSQRSN
LMQHRRVHTG ERPYECSECG KSFSQNFSLI YHQRVHTGER PHECNECGKS FSRSSSLIHH
RRLHTGERPY ECSKCGKSFK QSSSFSSHRK VHTGERPYVC GECGKSFSHS SNLKNHQRVH
TGERPVECSE CSKSFSCKSN LIKHLRVHTG ERPYECSECG KSFSQSSSLI QHRRVHTGKR
PYQCSQCGKS FGCKSVLIQH QRVHIGEKP*

speed

0.93 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: 0.999999999999936 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000254182

Genbank transcript ID

N/A

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.41T>C
cDNA.234T>C
g.9526T>C

AA changes

I14T Score: 89 explain score(s)

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

frameshift

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	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
Acc marginally decreased	9519	wt: 0.9894 / mu: 0.9882 (marginal change - not scored)	wt: CATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCT mu: CATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCT	ttag\|GACT
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC
Acc marginally increased	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT

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 alignment

ENSPTRG00000011565

n/a

Mmulatta

not conserved

ENSMMUG00000005333

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

no protein features affected

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

1861 / 1861

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

194 / 194

chromosome

strand

last intron/exon boundary

384

theoretical NMD boundary in CDS

140

length of CDS

1668

coding sequence (CDS) position

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

234

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

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

TACGTCCTCCCTGGGACTTATATCATCCTGGTCTCATGTAG

altered cDNA sequence snippet

TACGTCCTCCCTGGGACTTACATCATCCTGGTCTCATGTAG

wildtype AA sequence

MLENFALTSS LGLISSWSHV VAQLGLGEVP SVLHRMFMTP ASARWDQRGP GLHEWHLGKG
MSSGCWCGVE HEETPSEQRI SGERVPQFRT SKEGSSSQNA DSCEICCLVL RDILHLAEHQ
GTNCGQKLHT CGKQFYISAN LQQHQRQHIT EAPFRSYVDT ASFTQSCIVH VSEKPFTCRE
IRKDFLANMR FLHQDATQTG EKPNNSNKCA VAFYSGKSHH NWGKCSKAFS HIDTLVQDQR
ILTREGLFEC SKCGKACTRR CNLIQHQKVH SEERPYECNE CGKFFTYYSS FIIHQRVHTG
ERPYACPECG KSFSQIYSLN SHRKVHTGER PYECGECGKS FSQRSNLMQH RRVHTGERPY
ECSECGKSFS QNFSLIYHQR VHTGERPHEC NECGKSFSRS SSLIHHRRLH TGERPYECSK
CGKSFKQSSS FSSHRKVHTG ERPYVCGECG KSFSHSSNLK NHQRVHTGER PVECSECSKS
FSCKSNLIKH LRVHTGERPY ECSECGKSFS QSSSLIQHRR VHTGKRPYQC SQCGKSFGCK
SVLIQHQRVH IGEKP*

mutated AA sequence

MLENFALTSS LGLTSSWSHV VAQLGLGEVP SVLHRMFMTP ASARWDQRGP GLHEWHLGKG
MSSGCWCGVE HEETPSEQRI SGERVPQFRT SKEGSSSQNA DSCEICCLVL RDILHLAEHQ
GTNCGQKLHT CGKQFYISAN LQQHQRQHIT EAPFRSYVDT ASFTQSCIVH VSEKPFTCRE
IRKDFLANMR FLHQDATQTG EKPNNSNKCA VAFYSGKSHH NWGKCSKAFS HIDTLVQDQR
ILTREGLFEC SKCGKACTRR CNLIQHQKVH SEERPYECNE CGKFFTYYSS FIIHQRVHTG
ERPYACPECG KSFSQIYSLN SHRKVHTGER PYECGECGKS FSQRSNLMQH RRVHTGERPY
ECSECGKSFS QNFSLIYHQR VHTGERPHEC NECGKSFSRS SSLIHHRRLH TGERPYECSK
CGKSFKQSSS FSSHRKVHTG ERPYVCGECG KSFSHSSNLK NHQRVHTGER PVECSECSKS
FSCKSNLIKH LRVHTGERPY ECSECGKSFS QSSSLIQHRR VHTGKRPYQC SQCGKSFGCK
SVLIQHQRVH IGEKP*

speed

1.16 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999936 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000541801

Genbank transcript ID

NM_001265598

UniProt peptide

Q13398

alteration type

single base exchange

alteration region

CDS

DNA changes

c.41T>C
cDNA.182T>C
g.9526T>C

AA changes

I14T Score: 89 explain score(s)

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

frameshift

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	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
Acc marginally decreased	9519	wt: 0.9894 / mu: 0.9882 (marginal change - not scored)	wt: CATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCT mu: CATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCT	ttag\|GACT
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC
Acc marginally increased	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT

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 alignment

ENSPTRG00000011565

n/a

Mmulatta

not conserved

ENSMMUG00000005333

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

no protein features affected

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

1809 / 1809

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

142 / 142

chromosome

strand

last intron/exon boundary

332

theoretical NMD boundary in CDS

140

length of CDS

1668

coding sequence (CDS) position

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

182

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

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

TACGTCCTCCCTGGGACTTATATCATCCTGGTCTCATGTAG

altered cDNA sequence snippet

TACGTCCTCCCTGGGACTTACATCATCCTGGTCTCATGTAG

wildtype AA sequence

mutated AA sequence

speed

0.98 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999926722654 (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)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000347302

Genbank transcript ID

NM_198855

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9526T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	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
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC
Acc marginally increased	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT

distance from splice site

786

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

180 / 180

chromosome

strand

last intron/exon boundary

397

theoretical NMD boundary in CDS

167

length of CDS

1695

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)

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS GSVTFEDVAV YFSWEEWDLL DEAQKHLYFD
VMLENFALTS SLGCWCGVEH EETPSEQRIS GERVPQFRTS KEGSSSQNAD SCEICCLVLR
DILHLAEHQG TNCGQKLHTC GKQFYISANL QQHQRQHITE APFRSYVDTA SFTQSCIVHV
SEKPFTCREI RKDFLANMRF LHQDATQTGE KPNNSNKCAV AFYSGKSHHN WGKCSKAFSH
IDTLVQDQRI LTREGLFECS KCGKACTRRC NLIQHQKVHS EERPYECNEC GKFFTYYSSF
IIHQRVHTGE RPYACPECGK SFSQIYSLNS HRKVHTGERP YECGECGKSF SQRSNLMQHR
RVHTGERPYE CSECGKSFSQ NFSLIYHQRV HTGERPHECN ECGKSFSRSS SLIHHRRLHT
GERPYECSKC GKSFKQSSSF SSHRKVHTGE RPYVCGECGK SFSHSSNLKN HQRVHTGERP
VECSECSKSF SCKSNLIKHL RVHTGERPYE CSECGKSFSQ SSSLIQHRRV HTGKRPYQCS
QCGKSFGCKS VLIQHQRVHI GEKP*

mutated AA sequence

N/A

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999926722654 (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)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000391703

Genbank transcript ID

NM_001265600

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9526T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	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
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC
Acc marginally increased	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT

distance from splice site

786

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

142 / 142

chromosome

strand

last intron/exon boundary

176

theoretical NMD boundary in CDS

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

length of CDS

1512

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)

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLENFALTSS LGCWCGVEHE ETPSEQRISG ERVPQFRTSK EGSSSQNADS CEICCLVLRD
ILHLAEHQGT NCGQKLHTCG KQFYISANLQ QHQRQHITEA PFRSYVDTAS FTQSCIVHVS
EKPFTCREIR KDFLANMRFL HQDATQTGEK PNNSNKCAVA FYSGKSHHNW GKCSKAFSHI
DTLVQDQRIL TREGLFECSK CGKACTRRCN LIQHQKVHSE ERPYECNECG KFFTYYSSFI
IHQRVHTGER PYACPECGKS FSQIYSLNSH RKVHTGERPY ECGECGKSFS QRSNLMQHRR
VHTGERPYEC SECGKSFSQN FSLIYHQRVH TGERPHECNE CGKSFSRSSS LIHHRRLHTG
ERPYECSKCG KSFKQSSSFS SHRKVHTGER PYVCGECGKS FSHSSNLKNH QRVHTGERPV
ECSECSKSFS CKSNLIKHLR VHTGERPYEC SECGKSFSQS SSLIQHRRVH TGKRPYQCSQ
CGKSFGCKSV LIQHQRVHIG EKP*

mutated AA sequence

N/A

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999926722654 (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)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000420680

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9526T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	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
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC
Acc marginally increased	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT

distance from splice site

786

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

last intron/exon boundary

230

theoretical NMD boundary in CDS

179

length of CDS

1707

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)

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MISAYCNLHL LGSSDSPASA SQVAGTTGMR HHAQGSVTFE DVAVYFSWEE WDLLDEAQKH
LYFDVMLENF ALTSSLGCWC GVEHEETPSE QRISGERVPQ FRTSKEGSSS QNADSCEICC
LVLRDILHLA EHQGTNCGQK LHTCGKQFYI SANLQQHQRQ HITEAPFRSY VDTASFTQSC
IVHVSEKPFT CREIRKDFLA NMRFLHQDAT QTGEKPNNSN KCAVAFYSGK SHHNWGKCSK
AFSHIDTLVQ DQRILTREGL FECSKCGKAC TRRCNLIQHQ KVHSEERPYE CNECGKFFTY
YSSFIIHQRV HTGERPYACP ECGKSFSQIY SLNSHRKVHT GERPYECGEC GKSFSQRSNL
MQHRRVHTGE RPYECSECGK SFSQNFSLIY HQRVHTGERP HECNECGKSF SRSSSLIHHR
RLHTGERPYE CSKCGKSFKQ SSSFSSHRKV HTGERPYVCG ECGKSFSHSS NLKNHQRVHT
GERPVECSEC SKSFSCKSNL IKHLRVHTGE RPYECSECGK SFSQSSSLIQ HRRVHTGKRP
YQCSQCGKSF GCKSVLIQHQ RVHIGEKP*

mutated AA sequence

N/A

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999926722654 (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)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000240731

Genbank transcript ID

NM_006385

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9526T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	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
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC
Acc marginally increased	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT

distance from splice site

786

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

120 / 120

chromosome

strand

last intron/exon boundary

376

theoretical NMD boundary in CDS

206

length of CDS

1734

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)

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGCWCG VEHEETPSEQ RISGERVPQF RTSKEGSSSQ
NADSCEICCL VLRDILHLAE HQGTNCGQKL HTCGKQFYIS ANLQQHQRQH ITEAPFRSYV
DTASFTQSCI VHVSEKPFTC REIRKDFLAN MRFLHQDATQ TGEKPNNSNK CAVAFYSGKS
HHNWGKCSKA FSHIDTLVQD QRILTREGLF ECSKCGKACT RRCNLIQHQK VHSEERPYEC
NECGKFFTYY SSFIIHQRVH TGERPYACPE CGKSFSQIYS LNSHRKVHTG ERPYECGECG
KSFSQRSNLM QHRRVHTGER PYECSECGKS FSQNFSLIYH QRVHTGERPH ECNECGKSFS
RSSSLIHHRR LHTGERPYEC SKCGKSFKQS SSFSSHRKVH TGERPYVCGE CGKSFSHSSN
LKNHQRVHTG ERPVECSECS KSFSCKSNLI KHLRVHTGER PYECSECGKS FSQSSSLIQH
RRVHTGKRPY QCSQCGKSFG CKSVLIQHQR VHIGEKP*

mutated AA sequence

N/A

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999926722654 (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)

chr19:58151286T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF211

Ensembl transcript ID

ENST00000544273

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.9526T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4801508

database	homozygous (C/C)	heterozygous	allele carriers
1000G	129	814	943
ExAC	266	1916	2182

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.135	0.001
	-2.985	0
(flanking)	-0.138	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
Acc marginally increased	9518	wt: 0.9180 / mu: 0.9461 (marginal change - not scored)	wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC	ctta\|GGAC
Acc marginally increased	9520	wt: 0.4079 / mu: 0.4481 (marginal change - not scored)	wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC	tagg\|ACTT

distance from splice site

786

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

328 / 328

chromosome

strand

last intron/exon boundary

581

theoretical NMD boundary in CDS

203

length of CDS

1731

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)

9526

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

58151286

original gDNA sequence snippet

TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG

altered gDNA sequence snippet

TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MRTLRQREVE YFSKATQLVR GSTKDRGAQV PIATEVLFKL TQGSVTFEDV AVYFSWEEWD
LLDEAQKHLY FDVMLENFAL TSSLGCWCGV EHEETPSEQR ISGERVPQFR TSKEGSSSQN
ADSCEICCLV LRDILHLAEH QGTNCGQKLH TCGKQFYISA NLQQHQRQHI TEAPFRSYVD
TASFTQSCIV HVSEKPFTCR EIRKDFLANM RFLHQDATQT GEKPNNSNKC AVAFYSGKSH
HNWGKCSKAF SHIDTLVQDQ RILTREGLFE CSKCGKACTR RCNLIQHQKV HSEERPYECN
ECGKFFTYYS SFIIHQRVHT GERPYACPEC GKSFSQIYSL NSHRKVHTGE RPYECGECGK
SFSQRSNLMQ HRRVHTGERP YECSECGKSF SQNFSLIYHQ RVHTGERPHE CNECGKSFSR
SSSLIHHRRL HTGERPYECS KCGKSFKQSS SFSSHRKVHT GERPYVCGEC GKSFSHSSNL
KNHQRVHTGE RPVECSECSK SFSCKSNLIK HLRVHTGERP YECSECGKSF SQSSSLIQHR
RVHTGKRPYQ CSQCGKSFGC KSVLIQHQRV HIGEKP*

mutated AA sequence

N/A

speed

0.78 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

mutation t@sting

Prediction

polymorphism

Problems