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 11 transcript(s)...
Querying Taster for transcript #1: ENST00000243914
Querying Taster for transcript #2: ENST00000371196
Querying Taster for transcript #3: ENST00000423479
Querying Taster for transcript #4: ENST00000429804
Querying Taster for transcript #5: ENST00000433949
Querying Taster for transcript #6: ENST00000502686
Querying Taster for transcript #7: ENST00000422109
Querying Taster for transcript #8: ENST00000432255
Querying Taster for transcript #9: ENST00000539382
Querying Taster for transcript #10: ENST00000422869
Querying Taster for transcript #11: ENST00000426658
MT speed 0 s - this script 3.346531 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CTCFL	polymorphism_automatic	9.70334923522387e-14	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	9.70334923522387e-14	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	9.70334923522387e-14	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	9.70334923522387e-14	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	2.03947969623641e-13	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	2.03947969623641e-13	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	2.03947969623641e-13	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	2.03947969623641e-13	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	2.03947969623641e-13	simple_aae				T177A	single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	1.7637439809759e-06	without_aae					single base exchange	rs6025606		show file
CTCFL	polymorphism_automatic	1.7637439809759e-06	without_aae					single base exchange	rs6025606		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999903 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000422109

Genbank transcript ID

N/A

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.1191A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0035769

n/a

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

1284 / 1284

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

428 / 428

position of stopcodon in wt / mu cDNA

1946 / 1946

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

663 / 663

chromosome

strand

-1

last intron/exon boundary

2108

theoretical NMD boundary in CDS

1395

length of CDS

1284

coding sequence (CDS) position

529

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

1191

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

mutated AA sequence

speed

0.11 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: 0.999999999999903 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000432255

Genbank transcript ID

NM_001269048

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.1191A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0035769

n/a

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

1452 / 1452

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

484 / 484

position of stopcodon in wt / mu cDNA

2114 / 2114

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

663 / 663

chromosome

strand

-1

last intron/exon boundary

1905

theoretical NMD boundary in CDS

1192

length of CDS

1452

coding sequence (CDS) position

529

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

1191

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

mutated AA sequence

speed

0.33 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999903 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000422869

Genbank transcript ID

NM_001269047

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.719A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0035769

n/a

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

1722 / 1722

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

574 / 574

position of stopcodon in wt / mu cDNA

1912 / 1912

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

191 / 191

chromosome

strand

-1

last intron/exon boundary

1865

theoretical NMD boundary in CDS

1624

length of CDS

1722

coding sequence (CDS) position

529

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

719

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETTGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
FIPTVYKCSK CGKGFSRWIT SKWSGLKPQT FIT*

mutated AA sequence

MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETAGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
FIPTVYKCSK CGKGFSRWIT SKWSGLKPQT FIT*

speed

0.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999903 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000426658

Genbank transcript ID

N/A

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.1191A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0035769

n/a

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

1356 / 1356

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

452 / 452

position of stopcodon in wt / mu cDNA

2018 / 2018

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

663 / 663

chromosome

strand

-1

last intron/exon boundary

3140

theoretical NMD boundary in CDS

2427

length of CDS

1356

coding sequence (CDS) position

529

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

1191

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

mutated AA sequence

speed

0.16 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999796 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000243914

Genbank transcript ID

NM_080618

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.722A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0035769

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

1992 / 1992

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

664 / 664

position of stopcodon in wt / mu cDNA

2185 / 2185

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

-1

last intron/exon boundary

2034

theoretical NMD boundary in CDS

1790

length of CDS

1992

coding sequence (CDS) position

529

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

722

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

mutated AA sequence

MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETAGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK
EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE GVTCEMLLNT
MDK*

speed

0.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999796 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000371196

Genbank transcript ID

NM_001269040

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.646A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0035769

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

1992 / 1992

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

664 / 664

position of stopcodon in wt / mu cDNA

2109 / 2109

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

118 / 118

chromosome

strand

-1

last intron/exon boundary

1958

theoretical NMD boundary in CDS

1790

length of CDS

1992

coding sequence (CDS) position

529

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

646

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

mutated AA sequence

MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETAGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK
EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE GVTCEMLLNT
MDK*

speed

0.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999796 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000423479

Genbank transcript ID

NM_001269043

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.620A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0035769

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

2103 / 2103

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

701 / 701

position of stopcodon in wt / mu cDNA

2194 / 2194

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

92 / 92

chromosome

strand

-1

last intron/exon boundary

2080

theoretical NMD boundary in CDS

1938

length of CDS

2103

coding sequence (CDS) position

529

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

620

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

mutated AA sequence

MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETAGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK
EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE GVTCEMLLNT
MDNSAGCTGR MMLVSAWLLG RPQETYNQGR RRRGSRRVTW *

speed

0.15 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999796 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000429804

Genbank transcript ID

NM_001269046

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.1090A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0035769

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

1842 / 1842

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

614 / 614

position of stopcodon in wt / mu cDNA

2403 / 2403

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

562 / 562

chromosome

strand

-1

last intron/exon boundary

2252

theoretical NMD boundary in CDS

1640

length of CDS

1842

coding sequence (CDS) position

529

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

1090

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETTGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGVHMRNL HAYSAAELKC RYCSAVFHER
YALIQHQKTH KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN
AHFRKYHDAN FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT
ILKEATKGQK EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE
GVTCEMLLNT MDK*

mutated AA sequence

MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETAGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGVHMRNL HAYSAAELKC RYCSAVFHER
YALIQHQKTH KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN
AHFRKYHDAN FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT
ILKEATKGQK EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE
GVTCEMLLNT MDK*

speed

0.11 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999796 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000433949

Genbank transcript ID

NM_001269044

UniProt peptide

Q8NI51

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529A>G
cDNA.1191A>G
g.1976A>G

AA changes

T177A Score: 58 explain score(s)

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

177

frameshift

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

not conserved

177

Ptroglodytes

not conserved

ENSPTRG00000013663

177

Mmulatta

not conserved

ENSMMUG00000016802

177

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000070495

172

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0035769

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

1998 / 1998

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

666 / 666

position of stopcodon in wt / mu cDNA

2660 / 2660

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

663 / 663

chromosome

strand

-1

last intron/exon boundary

2503

theoretical NMD boundary in CDS

1790

length of CDS

1998

coding sequence (CDS) position

529

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

1191

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

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGCTCGAG

altered cDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGCTCGAG

wildtype AA sequence

mutated AA sequence

MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETAGLI
KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK
EAAKGWKEAA NGDGVISAHR NLCLLGSSDS HASVSGAGIT DARHHAWLIV LLFLVEMGFY
HVSHS*

speed

0.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999998236256019 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000502686

Genbank transcript ID

NM_001269054

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.1976A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

1351

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

113 / 113

chromosome

strand

-1

last intron/exon boundary

1167

theoretical NMD boundary in CDS

1004

length of CDS

1212

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)

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MFTSSRMSSF NRHMKTHTSE KPHLCHLCLK TFRTVTLLRN HVNTHTGTRP YKCNDCNMAF
VTSGELVRHR RYKHTHEKPF KCSMCKYASV EASKLKRHVR SHTGERPFQC CQCSYASRDT
YKLKRHMRTH SGEKPYECHI CHTRFTQSGT MKIHILQKHG ENVPKYQCPH CATIIARKSD
LRVHMRNLHA YSAAELKCRY CSAVFHERYA LIQHQKTHKN EKRFKCKHCS YACKQERHMT
AHIRTHTGEK PFTCLSCNKC FRQKQLLNAH FRKYHDANFI PTVYKCSKCG KGFSRWINLH
RHSEKCGSGE AKSAASGKGR RTRKRKQTIL KEATKGQKEA AKGWKEAANG DGVISAHRNL
CLLGSSDSHA SVSGAGITDA RHHAWLIVLL FLVEMGFYHV SHS*

mutated AA sequence

N/A

speed

0.09 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999998236256019 (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)

chr20:56098733T>CN/A show variant in all transcripts IGV

HGNC symbol

CTCFL

Ensembl transcript ID

ENST00000539382

Genbank transcript ID

NM_001269045

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.1976A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6025606

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1438	875	2313
ExAC	26916	-21065	5851

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.723	0.003
	-1.503	0
(flanking)	0.201	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

399

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

153 / 153

chromosome

strand

-1

last intron/exon boundary

1212

theoretical NMD boundary in CDS

1009

length of CDS

1269

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)

1976

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

56098733

original gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTACTGGACTGATCAAGGTACAG

altered gDNA sequence snippet

CGGTGAGCCTGGCTGAAACTGCTGGACTGATCAAGGTACAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MSGDERSDEI VLTVSNSNVE EQEDQPTAGQ ADAEKAKSTK NQRKTKGAKG TFHCDVCMFT
SSRMSSFNRH MKTHTSEKPH LCHLCLKTFR TVTLLRNHVN THTGTRPYKC NDCNMAFVTS
GELVRHRRYK HTHEKPFKCS MCKYASVEAS KLKRHVRSHT GERPFQCCQC SYASRDTYKL
KRHMRTHSGE KPYECHICHT RFTQSGTMKI HILQKHGENV PKYQCPHCAT IIARKSDLRV
HMRNLHAYSA AELKCRYCSA VFHERYALIQ HQKTHKNEKR FKCKHCSYAC KQERHMTAHI
RTHTGEKPFT CLSCNKCFRQ KQLLNAHFRK YHDANFIPTV YKCSKCGKGF SRWILWVGNS
EVAELGGPGS GPLLRLQSGC PPGLHHPKAG LGPEDPLPGQ LRHTTAGTGL SSLLQGPLCR
AA*

mutated AA sequence

N/A

speed

0.33 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems