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: ENST00000525445
Querying Taster for transcript #2: ENST00000348655
Querying Taster for transcript #3: ENST00000397574
Querying Taster for transcript #4: ENST00000330243
Querying Taster for transcript #5: ENST00000397570
Querying Taster for transcript #6: ENST00000397566
Querying Taster for transcript #7: ENST00000397562
MT speed 0 s - this script 5.303887 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
IRF7	polymorphism_automatic	4.49640324973188e-14	simple_aae		affected		K179E	single base exchange	rs1061502		show file
IRF7	polymorphism_automatic	4.49640324973188e-14	simple_aae		affected		K179E	single base exchange	rs1061502		show file
IRF7	polymorphism_automatic	1.83797421726695e-12	simple_aae		affected		K179E	single base exchange	rs1061502		show file
IRF7	polymorphism_automatic	1.83797421726695e-12	simple_aae		affected		K192E	single base exchange	rs1061502		show file
IRF7	polymorphism_automatic	1.83797421726695e-12	simple_aae		affected		K192E	single base exchange	rs1061502		show file
IRF7	polymorphism_automatic	2.82880385782391e-11	simple_aae		affected		K73E	single base exchange	rs1061502		show file
IRF7	polymorphism_automatic	4.99004883969256e-07	without_aae		affected			single base exchange	rs1061502		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999955 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1512799)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:614318T>CN/A show variant in all transcripts IGV

HGNC symbol

IRF7

Ensembl transcript ID

ENST00000348655

Genbank transcript ID

N/A

UniProt peptide

Q92985

alteration type

single base exchange

alteration region

CDS

DNA changes

c.535A>G
cDNA.821A>G
g.1682A>G

AA changes

K179E Score: 56 explain score(s)

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

179

frameshift

known variant

Reference ID: rs1061502

database	homozygous (C/C)	heterozygous	allele carriers
1000G	300	780	1080
ExAC	4282	20425	24707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.267	0.001
	-2.28	0
(flanking)	-0.394	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	1673	wt: 0.67 / mu: 0.79	wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC	ccag\|CTGG
Acc marginally increased	1676	wt: 0.7784 / mu: 0.7825 (marginal change - not scored)	wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG	gctg\|GTGA
Donor increased	1676	wt: 0.23 / mu: 0.97	wt: CAGCTGGTGACAAGG mu: CAGCTGGTGACGAGG	GCTG\|gtga
Donor gained	1681	0.50	mu: GGTGACGAGGGGGAC	TGAC\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

not conserved

ENSPTRG00000003126

179

Mmulatta

all identical

ENSMMUG00000004014

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000025498

179

Ggallus

all conserved

ENSGALG00000014297

169

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000045661

156

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
444	444	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
446	446	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
471	471	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
472	472	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
477	477	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
477	479	MUTAGEN	SLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.	might get lost (downstream of altered splice site)
479	479	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
483	483	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
484	484	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1425 / 1425

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

475 / 475

position of stopcodon in wt / mu cDNA

1711 / 1711

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

287 / 287

chromosome

strand

-1

last intron/exon boundary

1556

theoretical NMD boundary in CDS

1219

length of CDS

1425

coding sequence (CDS) position

535

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

821

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

1682

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

614318

original gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

original cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

wildtype AA sequence

MALAPERAAP RVLFGEWLLG EISSGCYEGL QWLDEARTCF RVPWKHFARK DLSEADARIF
KAWAVARGRW PPSSRGGGPP PEAETAERAG WKTNFRCALR STRRFVMLRD NSGDPADPHK
VYALSRELCW REGPGTDQTE AEAPAAVPPP QGGPPGPFLA HTHAGLQAPG PLPAPAGDKG
DLLLQAVQQS CLADHLLTAS WGADPVPTKA PGEGQEGLPL TGACAGGEAA APESPHQAEP
YLSPSPSACT AVQEPSPGAL DVTIMYKGRT VLQKVVGHPS CTFLYGPPDP AVRATDPQQV
AFPSPAELPD QKQLRYTEEL LRHVAPGLHL ELRGPQLWAR RMGKCKVYWE VGGPPGSASP
STPACLLPRN CDTPIFDFRV FFQELVEFRA RQRRGSPRYT IYLGFGQDLS AGRPKEKSLV
LVKLEPWLCR VHLEGTQREG VSSLDSSSLS LCLSSANSLY DDIECFLMEL EQPA*

mutated AA sequence

MALAPERAAP RVLFGEWLLG EISSGCYEGL QWLDEARTCF RVPWKHFARK DLSEADARIF
KAWAVARGRW PPSSRGGGPP PEAETAERAG WKTNFRCALR STRRFVMLRD NSGDPADPHK
VYALSRELCW REGPGTDQTE AEAPAAVPPP QGGPPGPFLA HTHAGLQAPG PLPAPAGDEG
DLLLQAVQQS CLADHLLTAS WGADPVPTKA PGEGQEGLPL TGACAGGEAA APESPHQAEP
YLSPSPSACT AVQEPSPGAL DVTIMYKGRT VLQKVVGHPS CTFLYGPPDP AVRATDPQQV
AFPSPAELPD QKQLRYTEEL LRHVAPGLHL ELRGPQLWAR RMGKCKVYWE VGGPPGSASP
STPACLLPRN CDTPIFDFRV FFQELVEFRA RQRRGSPRYT IYLGFGQDLS AGRPKEKSLV
LVKLEPWLCR VHLEGTQREG VSSLDSSSLS LCLSSANSLY DDIECFLMEL EQPA*

speed

0.76 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: 0.999999999999955 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1512799)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:614318T>CN/A show variant in all transcripts IGV

HGNC symbol

IRF7

Ensembl transcript ID

ENST00000397570

Genbank transcript ID

NM_004029

UniProt peptide

Q92985

alteration type

single base exchange

alteration region

CDS

DNA changes

c.535A>G
cDNA.905A>G
g.1682A>G

AA changes

K179E Score: 56 explain score(s)

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

179

frameshift

known variant

Reference ID: rs1061502

database	homozygous (C/C)	heterozygous	allele carriers
1000G	300	780	1080
ExAC	4282	20425	24707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.267	0.001
	-2.28	0
(flanking)	-0.394	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	1673	wt: 0.67 / mu: 0.79	wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC	ccag\|CTGG
Acc marginally increased	1676	wt: 0.7784 / mu: 0.7825 (marginal change - not scored)	wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG	gctg\|GTGA
Donor increased	1676	wt: 0.23 / mu: 0.97	wt: CAGCTGGTGACAAGG mu: CAGCTGGTGACGAGG	GCTG\|gtga
Donor gained	1681	0.50	mu: GGTGACGAGGGGGAC	TGAC\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

not conserved

ENSPTRG00000003126

179

Mmulatta

all identical

ENSMMUG00000004014

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000025498

179

Ggallus

all conserved

ENSGALG00000014297

169

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000045661

156

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
444	444	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
446	446	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
471	471	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
472	472	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
477	477	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
477	479	MUTAGEN	SLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.	might get lost (downstream of altered splice site)
479	479	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
483	483	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
484	484	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1425 / 1425

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

475 / 475

position of stopcodon in wt / mu cDNA

1795 / 1795

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

371 / 371

chromosome

strand

-1

last intron/exon boundary

1640

theoretical NMD boundary in CDS

1219

length of CDS

1425

coding sequence (CDS) position

535

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

905

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

1682

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

614318

original gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

original cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

wildtype AA sequence

mutated AA sequence

MALAPERAAP RVLFGEWLLG EISSGCYEGL QWLDEARTCF RVPWKHFARK DLSEADARIF
KAWAVARGRW PPSSRGGGPP PEAETAERAG WKTNFRCALR STRRFVMLRD NSGDPADPHK
VYALSRELCW REGPGTDQTE AEAPAAVPPP QGGPPGPFLA HTHAGLQAPG PLPAPAGDEG
DLLLQAVQQS CLADHLLTAS WGADPVPTKA PGEGQEGLPL TGACAGGEAA APESPHQAEP
YLSPSPSACT AVQEPSPGAL DVTIMYKGRT VLQKVVGHPS CTFLYGPPDP AVRATDPQQV
AFPSPAELPD QKQLRYTEEL LRHVAPGLHL ELRGPQLWAR RMGKCKVYWE VGGPPGSASP
STPACLLPRN CDTPIFDFRV FFQELVEFRA RQRRGSPRYT IYLGFGQDLS AGRPKEKSLV
LVKLEPWLCR VHLEGTQREG VSSLDSSSLS LCLSSANSLY DDIECFLMEL EQPA*

speed

0.77 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998162 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1512799)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:614318T>CN/A show variant in all transcripts IGV

HGNC symbol

IRF7

Ensembl transcript ID

ENST00000397574

Genbank transcript ID

NM_001572

UniProt peptide

Q92985

alteration type

single base exchange

alteration region

CDS

DNA changes

c.535A>G
cDNA.905A>G
g.1682A>G

AA changes

K179E Score: 56 explain score(s)

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

179

frameshift

known variant

Reference ID: rs1061502

database	homozygous (C/C)	heterozygous	allele carriers
1000G	300	780	1080
ExAC	4282	20425	24707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.267	0.001
	-2.28	0
(flanking)	-0.394	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	1673	wt: 0.67 / mu: 0.79	wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC	ccag\|CTGG
Acc marginally increased	1676	wt: 0.7784 / mu: 0.7825 (marginal change - not scored)	wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG	gctg\|GTGA
Donor increased	1676	wt: 0.23 / mu: 0.97	wt: CAGCTGGTGACAAGG mu: CAGCTGGTGACGAGG	GCTG\|gtga
Donor gained	1681	0.50	mu: GGTGACGAGGGGGAC	TGAC\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

all identical

ENSPTRG00000003126

200

Mmulatta

all identical

ENSMMUG00000004014

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000025498

179

Ggallus

all conserved

ENSGALG00000014297

169

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000045661

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
444	444	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
446	446	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
471	471	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
472	472	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
477	477	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
477	479	MUTAGEN	SLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.	might get lost (downstream of altered splice site)
479	479	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
483	483	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
484	484	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1512 / 1512

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

504 / 504

position of stopcodon in wt / mu cDNA

1882 / 1882

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

371 / 371

chromosome

strand

-1

last intron/exon boundary

1727

theoretical NMD boundary in CDS

1306

length of CDS

1512

coding sequence (CDS) position

535

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

905

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

1682

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

614318

original gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

original cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

wildtype AA sequence

MALAPERAAP RVLFGEWLLG EISSGCYEGL QWLDEARTCF RVPWKHFARK DLSEADARIF
KAWAVARGRW PPSSRGGGPP PEAETAERAG WKTNFRCALR STRRFVMLRD NSGDPADPHK
VYALSRELCW REGPGTDQTE AEAPAAVPPP QGGPPGPFLA HTHAGLQAPG PLPAPAGDKG
DLLLQAVQQS CLADHLLTAS WGADPVPTKA PGEGQEGLPL TGACAGGPGL PAGELYGWAV
ETTPSPGPQP AALTTGEAAA PESPHQAEPY LSPSPSACTA VQEPSPGALD VTIMYKGRTV
LQKVVGHPSC TFLYGPPDPA VRATDPQQVA FPSPAELPDQ KQLRYTEELL RHVAPGLHLE
LRGPQLWARR MGKCKVYWEV GGPPGSASPS TPACLLPRNC DTPIFDFRVF FQELVEFRAR
QRRGSPRYTI YLGFGQDLSA GRPKEKSLVL VKLEPWLCRV HLEGTQREGV SSLDSSSLSL
CLSSANSLYD DIECFLMELE QPA*

mutated AA sequence

MALAPERAAP RVLFGEWLLG EISSGCYEGL QWLDEARTCF RVPWKHFARK DLSEADARIF
KAWAVARGRW PPSSRGGGPP PEAETAERAG WKTNFRCALR STRRFVMLRD NSGDPADPHK
VYALSRELCW REGPGTDQTE AEAPAAVPPP QGGPPGPFLA HTHAGLQAPG PLPAPAGDEG
DLLLQAVQQS CLADHLLTAS WGADPVPTKA PGEGQEGLPL TGACAGGPGL PAGELYGWAV
ETTPSPGPQP AALTTGEAAA PESPHQAEPY LSPSPSACTA VQEPSPGALD VTIMYKGRTV
LQKVVGHPSC TFLYGPPDPA VRATDPQQVA FPSPAELPDQ KQLRYTEELL RHVAPGLHLE
LRGPQLWARR MGKCKVYWEV GGPPGSASPS TPACLLPRNC DTPIFDFRVF FQELVEFRAR
QRRGSPRYTI YLGFGQDLSA GRPKEKSLVL VKLEPWLCRV HLEGTQREGV SSLDSSSLSL
CLSSANSLYD DIECFLMELE QPA*

speed

0.73 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998162 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1512799)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:614318T>CN/A show variant in all transcripts IGV

HGNC symbol

IRF7

Ensembl transcript ID

ENST00000330243

Genbank transcript ID

N/A

UniProt peptide

Q92985

alteration type

single base exchange

alteration region

CDS

DNA changes

c.574A>G
cDNA.961A>G
g.1682A>G

AA changes

K192E Score: 56 explain score(s)

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

192

frameshift

known variant

Reference ID: rs1061502

database	homozygous (C/C)	heterozygous	allele carriers
1000G	300	780	1080
ExAC	4282	20425	24707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.267	0.001
	-2.28	0
(flanking)	-0.394	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	1673	wt: 0.67 / mu: 0.79	wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC	ccag\|CTGG
Acc marginally increased	1676	wt: 0.7784 / mu: 0.7825 (marginal change - not scored)	wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG	gctg\|GTGA
Donor increased	1676	wt: 0.23 / mu: 0.97	wt: CAGCTGGTGACAAGG mu: CAGCTGGTGACGAGG	GCTG\|gtga
Donor gained	1681	0.50	mu: GGTGACGAGGGGGAC	TGAC\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

192

mutated

all conserved

192

Ptroglodytes

all identical

ENSPTRG00000003126

200

Mmulatta

all identical

ENSMMUG00000004014

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000025498

179

Ggallus

all conserved

ENSGALG00000014297

166

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000045661

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
444	444	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
446	446	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
471	471	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
472	472	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
477	477	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
477	479	MUTAGEN	SLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.	might get lost (downstream of altered splice site)
479	479	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
483	483	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
484	484	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1551 / 1551

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

517 / 517

position of stopcodon in wt / mu cDNA

1938 / 1938

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

388 / 388

chromosome

strand

-1

last intron/exon boundary

1783

theoretical NMD boundary in CDS

1345

length of CDS

1551

coding sequence (CDS) position

574

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

961

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

1682

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

614318

original gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

original cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

wildtype AA sequence

MPVPERPAAG PDSPRPGTRR AAPRVLFGEW LLGEISSGCY EGLQWLDEAR TCFRVPWKHF
ARKDLSEADA RIFKAWAVAR GRWPPSSRGG GPPPEAETAE RAGWKTNFRC ALRSTRRFVM
LRDNSGDPAD PHKVYALSRE LCWREGPGTD QTEAEAPAAV PPPQGGPPGP FLAHTHAGLQ
APGPLPAPAG DKGDLLLQAV QQSCLADHLL TASWGADPVP TKAPGEGQEG LPLTGACAGG
PGLPAGELYG WAVETTPSPG PQPAALTTGE AAAPESPHQA EPYLSPSPSA CTAVQEPSPG
ALDVTIMYKG RTVLQKVVGH PSCTFLYGPP DPAVRATDPQ QVAFPSPAEL PDQKQLRYTE
ELLRHVAPGL HLELRGPQLW ARRMGKCKVY WEVGGPPGSA SPSTPACLLP RNCDTPIFDF
RVFFQELVEF RARQRRGSPR YTIYLGFGQD LSAGRPKEKS LVLVKLEPWL CRVHLEGTQR
EGVSSLDSSS LSLCLSSANS LYDDIECFLM ELEQPA*

mutated AA sequence

MPVPERPAAG PDSPRPGTRR AAPRVLFGEW LLGEISSGCY EGLQWLDEAR TCFRVPWKHF
ARKDLSEADA RIFKAWAVAR GRWPPSSRGG GPPPEAETAE RAGWKTNFRC ALRSTRRFVM
LRDNSGDPAD PHKVYALSRE LCWREGPGTD QTEAEAPAAV PPPQGGPPGP FLAHTHAGLQ
APGPLPAPAG DEGDLLLQAV QQSCLADHLL TASWGADPVP TKAPGEGQEG LPLTGACAGG
PGLPAGELYG WAVETTPSPG PQPAALTTGE AAAPESPHQA EPYLSPSPSA CTAVQEPSPG
ALDVTIMYKG RTVLQKVVGH PSCTFLYGPP DPAVRATDPQ QVAFPSPAEL PDQKQLRYTE
ELLRHVAPGL HLELRGPQLW ARRMGKCKVY WEVGGPPGSA SPSTPACLLP RNCDTPIFDF
RVFFQELVEF RARQRRGSPR YTIYLGFGQD LSAGRPKEKS LVLVKLEPWL CRVHLEGTQR
EGVSSLDSSS LSLCLSSANS LYDDIECFLM ELEQPA*

speed

0.75 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998162 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1512799)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:614318T>CN/A show variant in all transcripts IGV

HGNC symbol

IRF7

Ensembl transcript ID

ENST00000397566

Genbank transcript ID

NM_004031

UniProt peptide

Q92985

alteration type

single base exchange

alteration region

CDS

DNA changes

c.574A>G
cDNA.984A>G
g.1682A>G

AA changes

K192E Score: 56 explain score(s)

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

192

frameshift

known variant

Reference ID: rs1061502

database	homozygous (C/C)	heterozygous	allele carriers
1000G	300	780	1080
ExAC	4282	20425	24707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.267	0.001
	-2.28	0
(flanking)	-0.394	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	1673	wt: 0.67 / mu: 0.79	wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC	ccag\|CTGG
Acc marginally increased	1676	wt: 0.7784 / mu: 0.7825 (marginal change - not scored)	wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG	gctg\|GTGA
Donor increased	1676	wt: 0.23 / mu: 0.97	wt: CAGCTGGTGACAAGG mu: CAGCTGGTGACGAGG	GCTG\|gtga
Donor gained	1681	0.50	mu: GGTGACGAGGGGGAC	TGAC\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

192

mutated

all conserved

192

Ptroglodytes

all identical

ENSPTRG00000003126

200

Mmulatta

all identical

ENSMMUG00000004014

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000025498

179

Ggallus

all conserved

ENSGALG00000014297

166

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000045661

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
444	444	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
446	446	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
471	471	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
472	472	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
477	477	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
477	479	MUTAGEN	SLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.	might get lost (downstream of altered splice site)
479	479	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
483	483	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
484	484	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1551 / 1551

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

517 / 517

position of stopcodon in wt / mu cDNA

1961 / 1961

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

411 / 411

chromosome

strand

-1

last intron/exon boundary

1806

theoretical NMD boundary in CDS

1345

length of CDS

1551

coding sequence (CDS) position

574

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

984

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

1682

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

614318

original gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

original cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

wildtype AA sequence

mutated AA sequence

MPVPERPAAG PDSPRPGTRR AAPRVLFGEW LLGEISSGCY EGLQWLDEAR TCFRVPWKHF
ARKDLSEADA RIFKAWAVAR GRWPPSSRGG GPPPEAETAE RAGWKTNFRC ALRSTRRFVM
LRDNSGDPAD PHKVYALSRE LCWREGPGTD QTEAEAPAAV PPPQGGPPGP FLAHTHAGLQ
APGPLPAPAG DEGDLLLQAV QQSCLADHLL TASWGADPVP TKAPGEGQEG LPLTGACAGG
PGLPAGELYG WAVETTPSPG PQPAALTTGE AAAPESPHQA EPYLSPSPSA CTAVQEPSPG
ALDVTIMYKG RTVLQKVVGH PSCTFLYGPP DPAVRATDPQ QVAFPSPAEL PDQKQLRYTE
ELLRHVAPGL HLELRGPQLW ARRMGKCKVY WEVGGPPGSA SPSTPACLLP RNCDTPIFDF
RVFFQELVEF RARQRRGSPR YTIYLGFGQD LSAGRPKEKS LVLVKLEPWL CRVHLEGTQR
EGVSSLDSSS LSLCLSSANS LYDDIECFLM ELEQPA*

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999971712 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1512799)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:614318T>CN/A show variant in all transcripts IGV

HGNC symbol

IRF7

Ensembl transcript ID

ENST00000525445

Genbank transcript ID

N/A

UniProt peptide

Q92985

alteration type

single base exchange

alteration region

CDS

DNA changes

c.217A>G
cDNA.519A>G
g.1682A>G

AA changes

K73E Score: 56 explain score(s)

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

frameshift

known variant

Reference ID: rs1061502

database	homozygous (C/C)	heterozygous	allele carriers
1000G	300	780	1080
ExAC	4282	20425	24707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.267	0.001
	-2.28	0
(flanking)	-0.394	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	1673	wt: 0.67 / mu: 0.79	wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC	ccag\|CTGG
Acc marginally increased	1676	wt: 0.7784 / mu: 0.7825 (marginal change - not scored)	wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG	gctg\|GTGA
Donor increased	1676	wt: 0.23 / mu: 0.97	wt: CAGCTGGTGACAAGG mu: CAGCTGGTGACGAGG	GCTG\|gtga
Donor gained	1681	0.50	mu: GGTGACGAGGGGGAC	TGAC\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000003126

198

Mmulatta

all identical

ENSMMUG00000004014

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000025498

179

Ggallus

all conserved

ENSGALG00000014297

163

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000045661

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
11	126	DNA_BIND	IRF tryptophan pentad repeat.	lost
84	102	HELIX		might get lost (downstream of altered splice site)
90	90	MUTAGEN	G->T: Loss of acetylation, increased DNA- binding and activity; when associated with R-93.	might get lost (downstream of altered splice site)
92	92	MUTAGEN	K->R: Loss of acetylation, DNA-binding and activity.	might get lost (downstream of altered splice site)
92	92	MOD_RES	N6-acetyllysine; by KAT2A and KAT2B.	might get lost (downstream of altered splice site)
93	93	MUTAGEN	T->R: Loss of acetylation, increased DNA- binding and activity; when associated with T-90.	might get lost (downstream of altered splice site)
105	112	STRAND		might get lost (downstream of altered splice site)
119	125	STRAND		might get lost (downstream of altered splice site)
444	444	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
446	446	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
471	471	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
472	472	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
477	477	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
477	479	MUTAGEN	SLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.	might get lost (downstream of altered splice site)
479	479	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
483	483	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
484	484	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1194 / 1194

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

398 / 398

position of stopcodon in wt / mu cDNA

1496 / 1496

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

303 / 303

chromosome

strand

-1

last intron/exon boundary

1341

theoretical NMD boundary in CDS

988

length of CDS

1194

coding sequence (CDS) position

217

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

519

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

1682

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

614318

original gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

original cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

wildtype AA sequence

MLRDNSGDPA DPHKVYALSR ELCWREGPGT DQTEAEAPAA VPPPQGGPPG PFLAHTHAGL
QAPGPLPAPA GDKGDLLLQA VQQSCLADHL LTASWGADPV PTKAPGEGQE GLPLTGACAG
GPGLPAGELY GWAVETTPSP GPQPAALTTG EAAAPESPHQ AEPYLSPSPS ACTAVQEPSP
GALDVTIMYK GRTVLQKVVG HPSCTFLYGP PDPAVRATDP QQVAFPSPAE LPDQKQLRYT
EELLRHVAPG LHLELRGPQL WARRMGKCKV YWEVGGPPGS ASPSTPACLL PRNCDTPIFD
FRVFFQELVE FRARQRRGSP RYTIYLGFGQ DLSAGRPKEK SLVLVKLEPW LCRVHLEGTQ
REGVSSLDSS SLSLCLSSAN SLYDDIECFL MELEQPA*

mutated AA sequence

MLRDNSGDPA DPHKVYALSR ELCWREGPGT DQTEAEAPAA VPPPQGGPPG PFLAHTHAGL
QAPGPLPAPA GDEGDLLLQA VQQSCLADHL LTASWGADPV PTKAPGEGQE GLPLTGACAG
GPGLPAGELY GWAVETTPSP GPQPAALTTG EAAAPESPHQ AEPYLSPSPS ACTAVQEPSP
GALDVTIMYK GRTVLQKVVG HPSCTFLYGP PDPAVRATDP QQVAFPSPAE LPDQKQLRYT
EELLRHVAPG LHLELRGPQL WARRMGKCKV YWEVGGPPGS ASPSTPACLL PRNCDTPIFD
FRVFFQELVE FRARQRRGSP RYTIYLGFGQ DLSAGRPKEK SLVLVKLEPW LCRVHLEGTQ
REGVSSLDSS SLSLCLSSAN SLYDDIECFL MELEQPA*

speed

0.88 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999500995116 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1512799)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:614318T>CN/A show variant in all transcripts IGV

HGNC symbol

IRF7

Ensembl transcript ID

ENST00000397562

Genbank transcript ID

N/A

UniProt peptide

Q92985

alteration type

single base exchange

alteration region

intron

DNA changes

g.1682A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1061502

database	homozygous (C/C)	heterozygous	allele carriers
1000G	300	780	1080
ExAC	4282	20425	24707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.267	0.001
	-2.28	0
(flanking)	-0.394	0

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

splice sites

splice site change before start ATG (at aa -94) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	1673	wt: 0.67 / mu: 0.79	wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC	ccag\|CTGG
Acc marginally increased	1676	wt: 0.7784 / mu: 0.7825 (marginal change - not scored)	wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG	gctg\|GTGA
Donor increased	1676	wt: 0.23 / mu: 0.97	wt: CAGCTGGTGACAAGG mu: CAGCTGGTGACGAGG	GCTG\|gtga
Donor gained	1681	0.50	mu: GGTGACGAGGGGGAC	TGAC\|gagg

distance from splice site

158

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
11	126	DNA_BIND	IRF tryptophan pentad repeat.	might get lost (downstream of altered splice site)
14	24	HELIX		might get lost (downstream of altered splice site)
31	36	STRAND		might get lost (downstream of altered splice site)
39	43	STRAND		might get lost (downstream of altered splice site)
55	57	HELIX		might get lost (downstream of altered splice site)
58	66	HELIX		might get lost (downstream of altered splice site)
84	102	HELIX		might get lost (downstream of altered splice site)
90	90	MUTAGEN	G->T: Loss of acetylation, increased DNA- binding and activity; when associated with R-93.	might get lost (downstream of altered splice site)
92	92	MUTAGEN	K->R: Loss of acetylation, DNA-binding and activity.	might get lost (downstream of altered splice site)
92	92	MOD_RES	N6-acetyllysine; by KAT2A and KAT2B.	might get lost (downstream of altered splice site)
93	93	MUTAGEN	T->R: Loss of acetylation, increased DNA- binding and activity; when associated with T-90.	might get lost (downstream of altered splice site)
105	112	STRAND		might get lost (downstream of altered splice site)
119	125	STRAND		might get lost (downstream of altered splice site)
444	444	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
446	446	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
471	471	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
472	472	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
477	477	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
477	479	MUTAGEN	SLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.	might get lost (downstream of altered splice site)
479	479	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
483	483	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
484	484	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

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

1060 / 1060

chromosome

strand

-1

last intron/exon boundary

1537

theoretical NMD boundary in CDS

427

length of CDS

633

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)

1682

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

614318

original gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MYKGRTVLQK VVGHPSCTFL YGPPDPAVRA TDPQQVAFPS PAELPDQKQL RYTEELLRHV
APGLHLELRG PQLWARRMGK CKVYWEVGGP PGSASPSTPA CLLPRNCDTP IFDFRVFFQE
LVEFRARQRR GSPRYTIYLG FGQDLSAGRP KEKSLVLVKL EPWLCRVHLE GTQREGVSSL
DSSSLSLCLS SANSLYDDIE CFLMELEQPA *

mutated AA sequence

N/A

speed

0.71 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