MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000366760
Querying Taster for transcript #2: ENST00000366759
Querying Taster for transcript #3: ENST00000315781
Querying Taster for transcript #4: ENST00000366758
Querying Taster for transcript #5: ENST00000438896
MT speed 0 s - this script 5.41206 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
JMJD4	polymorphism_automatic	1.0991207943789e-14	simple_aae		affected		D65E	single base exchange	rs2295994		show file
JMJD4	polymorphism_automatic	1.0991207943789e-14	simple_aae		affected		D65E	single base exchange	rs2295994		show file
SNAP47	polymorphism_automatic	6.64480411705082e-06	without_aae					single base exchange	rs2295994		show file
SNAP47	polymorphism_automatic	0.000113150762633962	without_aae					single base exchange	rs2295994		show file
SNAP47	polymorphism_automatic	0.000113150762633962	without_aae					single base exchange	rs2295994		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999989 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:227922918A>CN/A show variant in all transcripts IGV

HGNC symbol

JMJD4

Ensembl transcript ID

ENST00000366758

Genbank transcript ID

NM_023007

UniProt peptide

Q9H9V9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.195T>G
cDNA.195T>G
g.195T>G

AA changes

D65E Score: 45 explain score(s)

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

frameshift

known variant

Reference ID: rs2295994

database	homozygous (C/C)	heterozygous	allele carriers
1000G	445	1190	1635
ExAC	4943	16948	21891

regulatory features

ETS1, Transcription Factor, ETS1 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
Gabp, Transcription Factor, Gabp TF binding
ZZZ3, Transcription Factor, ZZZ3 Transcription Factor Binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Srf, Transcription Factor, Srf TF binding
Egr1, Transcription Factor, Egr1 Transcription Factor Binding
SIX5, Transcription Factor, SIX5 Transcription Factor Binding
BCLAF1, Transcription Factor, BCLAF1 Transcription Factor Binding
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
Cjun, Transcription Factor, Cjun TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
ZEB1, Transcription Factor, ZEB1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.551	0
	-1.957	0
(flanking)	0.196	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	185	wt: 0.21 / mu: 0.26	wt: CGACAGCCACTTCCGAGGCCTGGGGGTCGATGTCCCCGGCG mu: CGACAGCCACTTCCGAGGCCTGGGGGTCGAGGTCCCCGGCG	gcct\|GGGG
Donor gained	189	0.79	mu: CTGGGGGTCGAGGTC	GGGG\|gtcg

distance from splice site

195

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000002059

Mmulatta

not conserved

ENSMMUG00000001867

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000036819

PSG

Ggallus

not conserved

ENSGALG00000005417

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000058995

n/a

Dmelanogaster

no alignment

FBgn0032671

n/a

Celegans

no alignment

T07C4.11

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
188	347	DOMAIN	JmjC.	might get lost (downstream of altered splice site)
244	244	CONFLICT	W -> R (in Ref. 1; BAB14366).	might get lost (downstream of altered splice site)
445	445	CONFLICT	Q -> R (in Ref. 1; BAB14366).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1392 / 1392

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

464 / 464

position of stopcodon in wt / mu cDNA

1392 / 1392

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

-1

last intron/exon boundary

1108

theoretical NMD boundary in CDS

1057

length of CDS

1392

coding sequence (CDS) position

195

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

195

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

195

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

227922918

original gDNA sequence snippet

TTCCGAGGCCTGGGGGTCGATGTCCCCGGCGTCGGCCAGGC

altered gDNA sequence snippet

TTCCGAGGCCTGGGGGTCGAGGTCCCCGGCGTCGGCCAGGC

original cDNA sequence snippet

TTCCGAGGCCTGGGGGTCGATGTCCCCGGCGTCGGCCAGGC

altered cDNA sequence snippet

TTCCGAGGCCTGGGGGTCGAGGTCCCCGGCGTCGGCCAGGC

wildtype AA sequence

MRAGPEPQAL AGQKRGALRL LVPRLVLTVS APAEVRRRVL RPVLSWMDRE TRALADSHFR
GLGVDVPGVG QAPGRVAFVS EPGAFSYADF VRGFLLPNLP CVFSSAFTQG WGSRRRWVTP
AGRPDFDHLL RTYGDVVVPV ANCGVQEYNS NPKEHMTLRD YITYWKEYIQ AGYSSPRGCL
YLKDWHLCRD FPVEDVFTLP VYFSSDWLNE FWDALDVDDY RFVYAGPAGS WSPFHADIFR
SFSWSVNVCG RKKWLLFPPG QEEALRDRHG NLPYDVTSPA LCDTHLHPRN QLAGPPLEIT
QEAGEMVFVP SGWHHQVHNL DDTISINHNW VNGFNLANMW RFLQQELCAV QEEVSEWRDS
MPDWHHHCQV IMRSCSGINF EEFYHFLKVI AEKRLLVLRE AAAEDGAGLG FEQAAFDVGR
ITEVLASLVA HPDFQRVDTS AFSPQPKELL QQLREAVDAA AAP*

mutated AA sequence

MRAGPEPQAL AGQKRGALRL LVPRLVLTVS APAEVRRRVL RPVLSWMDRE TRALADSHFR
GLGVEVPGVG QAPGRVAFVS EPGAFSYADF VRGFLLPNLP CVFSSAFTQG WGSRRRWVTP
AGRPDFDHLL RTYGDVVVPV ANCGVQEYNS NPKEHMTLRD YITYWKEYIQ AGYSSPRGCL
YLKDWHLCRD FPVEDVFTLP VYFSSDWLNE FWDALDVDDY RFVYAGPAGS WSPFHADIFR
SFSWSVNVCG RKKWLLFPPG QEEALRDRHG NLPYDVTSPA LCDTHLHPRN QLAGPPLEIT
QEAGEMVFVP SGWHHQVHNL DDTISINHNW VNGFNLANMW RFLQQELCAV QEEVSEWRDS
MPDWHHHCQV IMRSCSGINF EEFYHFLKVI AEKRLLVLRE AAAEDGAGLG FEQAAFDVGR
ITEVLASLVA HPDFQRVDTS AFSPQPKELL QQLREAVDAA AAP*

speed

0.15 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: 0.999999999999989 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:227922918A>CN/A show variant in all transcripts IGV

HGNC symbol

JMJD4

Ensembl transcript ID

ENST00000438896

Genbank transcript ID

NM_001161465

UniProt peptide

Q9H9V9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.195T>G
cDNA.195T>G
g.195T>G

AA changes

D65E Score: 45 explain score(s)

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

frameshift

known variant

Reference ID: rs2295994

database	homozygous (C/C)	heterozygous	allele carriers
1000G	445	1190	1635
ExAC	4943	16948	21891

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.551	0
	-1.957	0
(flanking)	0.196	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	185	wt: 0.21 / mu: 0.26	wt: CGACAGCCACTTCCGAGGCCTGGGGGTCGATGTCCCCGGCG mu: CGACAGCCACTTCCGAGGCCTGGGGGTCGAGGTCCCCGGCG	gcct\|GGGG
Donor gained	189	0.79	mu: CTGGGGGTCGAGGTC	GGGG\|gtcg

distance from splice site

195

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000002059

Mmulatta

not conserved

ENSMMUG00000001867

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000036819

PSG

Ggallus

not conserved

ENSGALG00000005417

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000058995

n/a

Dmelanogaster

no alignment

FBgn0032671

n/a

Celegans

no alignment

T07C4.11

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
188	347	DOMAIN	JmjC.	might get lost (downstream of altered splice site)
244	244	CONFLICT	W -> R (in Ref. 1; BAB14366).	might get lost (downstream of altered splice site)
445	445	CONFLICT	Q -> R (in Ref. 1; BAB14366).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1344 / 1344

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

448 / 448

position of stopcodon in wt / mu cDNA

1344 / 1344

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

-1

last intron/exon boundary

1060

theoretical NMD boundary in CDS

1009

length of CDS

1344

coding sequence (CDS) position

195

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

195

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

195

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

227922918

original gDNA sequence snippet

TTCCGAGGCCTGGGGGTCGATGTCCCCGGCGTCGGCCAGGC

altered gDNA sequence snippet

TTCCGAGGCCTGGGGGTCGAGGTCCCCGGCGTCGGCCAGGC

original cDNA sequence snippet

TTCCGAGGCCTGGGGGTCGATGTCCCCGGCGTCGGCCAGGC

altered cDNA sequence snippet

TTCCGAGGCCTGGGGGTCGAGGTCCCCGGCGTCGGCCAGGC

wildtype AA sequence

MRAGPEPQAL AGQKRGALRL LVPRLVLTVS APAEVRRRVL RPVLSWMDRE TRALADSHFR
GLGVDVPGVG QAPGRVAFVS EPGAFSYADF VRGFLLPNLP CVFSSAFTQG WGSRRRWVTP
AGRPDFDHLL RTYGDVVVPV ANCGVQEYNS NPKEHMTLRD YITYWKEYIQ AGYSSPRGCL
YLKDWHLCRD FPVEDVFTLP VYFSSDWLNE FWDALDVDDY RFVYAGPAGS WSPFHADIFR
SFSWSVNVCG RKKWLLFPPG QEEALRDRHG NLPYDVTSPA LCDTHLHPRN QLAGPPLEIT
QEAGEMVFVP SGWHHQVHNL DDTISINHNW VNGFNLANMW RFLQQELCAV QEEVIMRSCS
GINFEEFYHF LKVIAEKRLL VLREAAAEDG AGLGFEQAAF DVGRITEVLA SLVAHPDFQR
VDTSAFSPQP KELLQQLREA VDAAAAP*

mutated AA sequence

MRAGPEPQAL AGQKRGALRL LVPRLVLTVS APAEVRRRVL RPVLSWMDRE TRALADSHFR
GLGVEVPGVG QAPGRVAFVS EPGAFSYADF VRGFLLPNLP CVFSSAFTQG WGSRRRWVTP
AGRPDFDHLL RTYGDVVVPV ANCGVQEYNS NPKEHMTLRD YITYWKEYIQ AGYSSPRGCL
YLKDWHLCRD FPVEDVFTLP VYFSSDWLNE FWDALDVDDY RFVYAGPAGS WSPFHADIFR
SFSWSVNVCG RKKWLLFPPG QEEALRDRHG NLPYDVTSPA LCDTHLHPRN QLAGPPLEIT
QEAGEMVFVP SGWHHQVHNL DDTISINHNW VNGFNLANMW RFLQQELCAV QEEVIMRSCS
GINFEEFYHF LKVIAEKRLL VLREAAAEDG AGLGFEQAAF DVGRITEVLA SLVAHPDFQR
VDTSAFSPQP KELLQQLREA VDAAAAP*

speed

1.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999993355195883 (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)

chr1:227922918A>CN/A show variant in all transcripts IGV

HGNC symbol

SNAP47

Ensembl transcript ID

ENST00000366760

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.6679A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2295994

database	homozygous (C/C)	heterozygous	allele carriers
1000G	445	1190	1635
ExAC	4943	16948	21891

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.551	0
	-1.957	0
(flanking)	0.196	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

6431

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

225 / 225

chromosome

strand

last intron/exon boundary

747

theoretical NMD boundary in CDS

472

length of CDS

669

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)

6679

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

227922918

original gDNA sequence snippet

GCCTGGCCGACGCCGGGGACATCGACCCCCAGGCCTCGGAA

altered gDNA sequence snippet

GCCTGGCCGACGCCGGGGACCTCGACCCCCAGGCCTCGGAA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTSCEPFGKE GILIKIPAVI SHRTESHVKP GRLTVLVSGL EIHDSSSLLM HRFEREDVDD
IKVHSPYEIS IRQRFIGKPD MAYRLISAKM PEVIPILEVQ FSKKMELLED ALVLRSARTS
SPAEKSCSVW HAASGLMGRT LHREPPAGDQ EGTALHLQTS LPALSEADTQ ELTQILRRMK
GLALEAESEL ERQDEALDGV AAAVDRATLT IDKHNRRMKR LT*

mutated AA sequence

N/A

speed

1.01 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999886849237366 (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)

chr1:227922918A>CN/A show variant in all transcripts IGV

HGNC symbol

SNAP47

Ensembl transcript ID

ENST00000315781

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.222A>C
g.6679A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2295994

database	homozygous (C/C)	heterozygous	allele carriers
1000G	445	1190	1635
ExAC	4943	16948	21891

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.551	0
	-1.957	0
(flanking)	0.196	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

222

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

415 / 415

chromosome

strand

last intron/exon boundary

1663

theoretical NMD boundary in CDS

1198

length of CDS

1341

coding sequence (CDS) position

N/A

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

222

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

6679

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

227922918

original gDNA sequence snippet

GCCTGGCCGACGCCGGGGACATCGACCCCCAGGCCTCGGAA

altered gDNA sequence snippet

GCCTGGCCGACGCCGGGGACCTCGACCCCCAGGCCTCGGAA

original cDNA sequence snippet

GCCTGGCCGACGCCGGGGACATCGACCCCCAGGCCTCGGAA

altered cDNA sequence snippet

GCCTGGCCGACGCCGGGGACCTCGACCCCCAGGCCTCGGAA

wildtype AA sequence

MRAARRGLHC AGAERPRRRG RLWDSSGVPQ RQKRPGPWRT QTQEQMSRDV CIHTWPCTYY
LEPKRRWVTG QLSLTSLSLR FMTDSTGEIL VSFPLSSIVE IKKEASHFIF SSITILEKGH
AKHWFSSLRP SRNVVFSIIE HFWRELLLSQ PGAVADASVP RTRGEELTGL MAGSQKRLED
TARVLHHQGQ QLDSVMRGLD KMESDLEVAD RLLTELESPA WWPFSSKLWK TPPETKPRED
VSMTSCEPFG KEGILIKIPA VISHRTESHV KPGRLTVLVS GLEIHDSSSL LMHRFEREDV
DDIKVHSPYE ISIRQRFIGK PDMAYRLISA KMPEVIPILE VQFSKKMELL EDALVLRSAR
TSSPAEKSCS VWHAASGLMG RTLHREPPAG DQEGTALHLQ TSLPALSEAD TQELTQGFRP
MSLSTQTVLV MLCSESAGAL WRQRLS*

mutated AA sequence

N/A

speed

0.98 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999886849237366 (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)

chr1:227922918A>CN/A show variant in all transcripts IGV

HGNC symbol

SNAP47

Ensembl transcript ID

ENST00000366759

Genbank transcript ID

NM_053052

UniProt peptide

N/A

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.222A>C
g.6679A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2295994

database	homozygous (C/C)	heterozygous	allele carriers
1000G	445	1190	1635
ExAC	4943	16948	21891

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.551	0
	-1.957	0
(flanking)	0.196	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

222

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

415 / 415

chromosome

strand

last intron/exon boundary

1663

theoretical NMD boundary in CDS

1198

length of CDS

1395

coding sequence (CDS) position

N/A

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

222

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

6679

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

227922918

original gDNA sequence snippet

GCCTGGCCGACGCCGGGGACATCGACCCCCAGGCCTCGGAA

altered gDNA sequence snippet

GCCTGGCCGACGCCGGGGACCTCGACCCCCAGGCCTCGGAA

original cDNA sequence snippet

GCCTGGCCGACGCCGGGGACATCGACCCCCAGGCCTCGGAA

altered cDNA sequence snippet

GCCTGGCCGACGCCGGGGACCTCGACCCCCAGGCCTCGGAA

wildtype AA sequence

mutated AA sequence

N/A

speed

0.14 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems