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: ENST00000566501
Querying Taster for transcript #2: ENST00000331666
Querying Taster for transcript #3: ENST00000564243
Querying Taster for transcript #4: ENST00000566866
Querying Taster for transcript #5: ENST00000395587
MT speed 4.17 s - this script 5.302434 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
EIF3C	disease_causing	0.999999331712357	simple_aae		affected		T751A	single base exchange			show file
EIF3C	disease_causing	0.999999331712357	simple_aae		affected		T751A	single base exchange			show file
EIF3C	disease_causing	0.999999331712357	simple_aae		affected		T741A	single base exchange			show file
EIF3C	disease_causing	0.999999331712357	simple_aae		affected		T751A	single base exchange			show file
EIF3C	disease_causing	0.999999331712357	simple_aae		affected		T751A	single base exchange			show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999331712357 (explain)

Summary

amino acid sequence changed
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28745909A>GN/A show variant in all transcripts IGV

HGNC symbol

EIF3C

Ensembl transcript ID

ENST00000331666

Genbank transcript ID

NM_001267574

UniProt peptide

Q99613

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2251A>G
cDNA.2437A>G
g.46031A>G

AA changes

T751A Score: 58 explain score(s)

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

751

frameshift

known variant

Variant was neither found in ExAC nor 1000G.
Search ExAC.

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.659	1
	3.858	1
(flanking)	4.659	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	46025	0.76	mu: GTGACTGGAAGGCCT	GACT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

751

mutated

not conserved

751

Ptroglodytes

all identical

ENSPTRG00000007935

404

Mmulatta

all identical

ENSMMUG00000011798

537

Fcatus

all identical

ENSFCAG00000015782

492

Mmusculus

all identical

ENSMUSG00000030738

749

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000008951

751

Drerio

all identical

ENSDARG00000016443

750

Dmelanogaster

not conserved

FBgn0034258

717

Celegans

not conserved

T23D8.4

708

Xtropicalis

all identical

ENSXETG00000002941

752

protein features

start (aa)	end (aa)	feature	details
712	846	DOMAIN	PCI.	lost
909	909	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2742 / 2742

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

914 / 914

position of stopcodon in wt / mu cDNA

2928 / 2928

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

187 / 187

chromosome

strand

last intron/exon boundary

2846

theoretical NMD boundary in CDS

2609

length of CDS

2742

coding sequence (CDS) position

2251

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

2437

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

46031

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

28745909

original gDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered gDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

original cDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered cDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

wildtype AA sequence

MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEL
WEDKEGKKKM NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG
SSDEDEDEDG VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS
DSEEEEGKQT ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE
WERVRGGVPL VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI
AAENNLGEGV IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV
GENILEESEN LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC
AIIERVQRYL EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE
GEDSAVLMER LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH
ADPPVQILYN RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ
EQEKVERRRQ VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV
GERQPLLGPP ESMREHVVAA SKAMKMGDWK TCHSFIINEK MNGKVWDLFP EADKVRTMLV
RKIQEESLRT YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ
TVVMHRTEPT AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR
RGGYRQQQSQ TAY*

mutated AA sequence

MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEL
WEDKEGKKKM NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG
SSDEDEDEDG VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS
DSEEEEGKQT ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE
WERVRGGVPL VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI
AAENNLGEGV IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV
GENILEESEN LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC
AIIERVQRYL EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE
GEDSAVLMER LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH
ADPPVQILYN RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ
EQEKVERRRQ VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV
GERQPLLGPP ESMREHVVAA SKAMKMGDWK ACHSFIINEK MNGKVWDLFP EADKVRTMLV
RKIQEESLRT YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ
TVVMHRTEPT AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR
RGGYRQQQSQ TAY*

speed

0.49 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

disease causing

Model: simple_aae, prob: 0.999999331712357 (explain)

Summary

amino acid sequence changed
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28745909A>GN/A show variant in all transcripts IGV

HGNC symbol

EIF3C

Ensembl transcript ID

ENST00000566501

Genbank transcript ID

NM_001199142

UniProt peptide

Q99613

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2251A>G
cDNA.2552A>G
g.46031A>G

AA changes

T751A Score: 58 explain score(s)

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

751

frameshift

known variant

Variant was neither found in ExAC nor 1000G.
Search ExAC.

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.659	1
	3.858	1
(flanking)	4.659	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	46025	0.76	mu: GTGACTGGAAGGCCT	GACT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

751

mutated

not conserved

751

Ptroglodytes

all identical

ENSPTRG00000007935

404

Mmulatta

all identical

ENSMMUG00000011798

537

Fcatus

all identical

ENSFCAG00000015782

492

Mmusculus

all identical

ENSMUSG00000030738

749

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000008951

751

Drerio

all identical

ENSDARG00000016443

750

Dmelanogaster

not conserved

FBgn0034258

717

Celegans

not conserved

T23D8.4

708

Xtropicalis

all identical

ENSXETG00000002941

752

protein features

start (aa)	end (aa)	feature	details
712	846	DOMAIN	PCI.	lost
909	909	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2742 / 2742

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

914 / 914

position of stopcodon in wt / mu cDNA

3043 / 3043

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

302 / 302

chromosome

strand

last intron/exon boundary

2961

theoretical NMD boundary in CDS

2609

length of CDS

2742

coding sequence (CDS) position

2251

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

2552

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

46031

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

28745909

original gDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered gDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

original cDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered cDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

wildtype AA sequence

mutated AA sequence

MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEL
WEDKEGKKKM NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG
SSDEDEDEDG VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS
DSEEEEGKQT ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE
WERVRGGVPL VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI
AAENNLGEGV IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV
GENILEESEN LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC
AIIERVQRYL EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE
GEDSAVLMER LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH
ADPPVQILYN RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ
EQEKVERRRQ VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV
GERQPLLGPP ESMREHVVAA SKAMKMGDWK ACHSFIINEK MNGKVWDLFP EADKVRTMLV
RKIQEESLRT YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ
TVVMHRTEPT AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR
RGGYRQQQSQ TAY*

speed

1.04 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999331712357 (explain)

Summary

amino acid sequence changed
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28745909A>GN/A show variant in all transcripts IGV

HGNC symbol

EIF3C

Ensembl transcript ID

ENST00000564243

Genbank transcript ID

N/A

UniProt peptide

Q99613

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2221A>G
cDNA.2296A>G
g.46031A>G

AA changes

T741A Score: 58 explain score(s)

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

741

frameshift

known variant

Variant was neither found in ExAC nor 1000G.
Search ExAC.

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.659	1
	3.858	1
(flanking)	4.659	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	46025	0.76	mu: GTGACTGGAAGGCCT	GACT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

741

mutated

not conserved

741

Ptroglodytes

all identical

ENSPTRG00000007935

404

Mmulatta

all identical

ENSMMUG00000011798

537

Fcatus

all identical

ENSFCAG00000015782

492

Mmusculus

all identical

ENSMUSG00000030738

749

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000008951

751

Drerio

all identical

ENSDARG00000016443

750

Dmelanogaster

not conserved

FBgn0034258

717

Celegans

not conserved

T23D8.4

708

Xtropicalis

all identical

ENSXETG00000002941

752

protein features

start (aa)	end (aa)	feature	details
712	846	DOMAIN	PCI.	lost
909	909	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2712 / 2712

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

904 / 904

position of stopcodon in wt / mu cDNA

2787 / 2787

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

76 / 76

chromosome

strand

last intron/exon boundary

2705

theoretical NMD boundary in CDS

2579

length of CDS

2712

coding sequence (CDS) position

2221

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

2296

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

46031

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

28745909

original gDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered gDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

original cDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered cDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

wildtype AA sequence

MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEM
NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG SSDEDEDEDG
VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS DSEEEEGKQT
ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE WERVRGGVPL
VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI AAENNLGEGV
IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV GENILEESEN
LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC AIIERVQRYL
EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE GEDSAVLMER
LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH ADPPVQILYN
RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ EQEKVERRRQ
VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV GERQPLLGPP
ESMREHVVAA SKAMKMGDWK TCHSFIINEK MNGKVWDLFP EADKVRTMLV RKIQEESLRT
YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ TVVMHRTEPT
AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR RGGYRQQQSQ
TAY*

mutated AA sequence

MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEM
NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG SSDEDEDEDG
VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS DSEEEEGKQT
ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE WERVRGGVPL
VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI AAENNLGEGV
IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV GENILEESEN
LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC AIIERVQRYL
EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE GEDSAVLMER
LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH ADPPVQILYN
RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ EQEKVERRRQ
VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV GERQPLLGPP
ESMREHVVAA SKAMKMGDWK ACHSFIINEK MNGKVWDLFP EADKVRTMLV RKIQEESLRT
YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ TVVMHRTEPT
AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR RGGYRQQQSQ
TAY*

speed

1.07 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999331712357 (explain)

Summary

amino acid sequence changed
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28745909A>GN/A show variant in all transcripts IGV

HGNC symbol

EIF3C

Ensembl transcript ID

ENST00000566866

Genbank transcript ID

N/A

UniProt peptide

Q99613

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2251A>G
cDNA.2411A>G
g.46031A>G

AA changes

T751A Score: 58 explain score(s)

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

751

frameshift

known variant

Variant was neither found in ExAC nor 1000G.
Search ExAC.

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.659	1
	3.858	1
(flanking)	4.659	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	46025	0.76	mu: GTGACTGGAAGGCCT	GACT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

751

mutated

not conserved

751

Ptroglodytes

all identical

ENSPTRG00000007935

404

Mmulatta

all identical

ENSMMUG00000011798

537

Fcatus

all identical

ENSFCAG00000015782

492

Mmusculus

all identical

ENSMUSG00000030738

749

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000008951

751

Drerio

all identical

ENSDARG00000016443

750

Dmelanogaster

not conserved

FBgn0034258

717

Celegans

not conserved

T23D8.4

708

Xtropicalis

all identical

ENSXETG00000002941

752

protein features

start (aa)	end (aa)	feature	details
712	846	DOMAIN	PCI.	lost
909	909	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2742 / 2742

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

914 / 914

position of stopcodon in wt / mu cDNA

2902 / 2902

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

161 / 161

chromosome

strand

last intron/exon boundary

2820

theoretical NMD boundary in CDS

2609

length of CDS

2742

coding sequence (CDS) position

2251

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

2411

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

46031

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

28745909

original gDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered gDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

original cDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered cDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

wildtype AA sequence

mutated AA sequence

MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEL
WEDKEGKKKM NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG
SSDEDEDEDG VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS
DSEEEEGKQT ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE
WERVRGGVPL VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI
AAENNLGEGV IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV
GENILEESEN LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC
AIIERVQRYL EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE
GEDSAVLMER LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH
ADPPVQILYN RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ
EQEKVERRRQ VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV
GERQPLLGPP ESMREHVVAA SKAMKMGDWK ACHSFIINEK MNGKVWDLFP EADKVRTMLV
RKIQEESLRT YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ
TVVMHRTEPT AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR
RGGYRQQQSQ TAY*

speed

0.49 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999331712357 (explain)

Summary

amino acid sequence changed
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28745909A>GN/A show variant in all transcripts IGV

HGNC symbol

EIF3C

Ensembl transcript ID

ENST00000395587

Genbank transcript ID

NM_001037808

UniProt peptide

Q99613

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2251A>G
cDNA.2388A>G
g.46031A>G

AA changes

T751A Score: 58 explain score(s)

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

751

frameshift

known variant

Variant was neither found in ExAC nor 1000G.
Search ExAC.

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.659	1
	3.858	1
(flanking)	4.659	1

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	46025	0.76	mu: GTGACTGGAAGGCCT	GACT\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

751

mutated

not conserved

751

Ptroglodytes

all identical

ENSPTRG00000007935

404

Mmulatta

all identical

ENSMMUG00000011798

537

Fcatus

all identical

ENSFCAG00000015782

492

Mmusculus

all identical

ENSMUSG00000030738

749

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000008951

751

Drerio

all identical

ENSDARG00000016443

750

Dmelanogaster

not conserved

FBgn0034258

717

Celegans

not conserved

T23D8.4

708

Xtropicalis

all identical

ENSXETG00000002941

752

protein features

start (aa)	end (aa)	feature	details
712	846	DOMAIN	PCI.	lost
909	909	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2742 / 2742

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

914 / 914

position of stopcodon in wt / mu cDNA

2879 / 2879

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

138 / 138

chromosome

strand

last intron/exon boundary

2797

theoretical NMD boundary in CDS

2609

length of CDS

2742

coding sequence (CDS) position

2251

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

2388

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

46031

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

28745909

original gDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered gDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

original cDNA sequence snippet

TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC

altered cDNA sequence snippet

TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC

wildtype AA sequence

mutated AA sequence

MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEL
WEDKEGKKKM NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG
SSDEDEDEDG VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS
DSEEEEGKQT ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE
WERVRGGVPL VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI
AAENNLGEGV IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV
GENILEESEN LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC
AIIERVQRYL EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE
GEDSAVLMER LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH
ADPPVQILYN RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ
EQEKVERRRQ VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV
GERQPLLGPP ESMREHVVAA SKAMKMGDWK ACHSFIINEK MNGKVWDLFP EADKVRTMLV
RKIQEESLRT YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ
TVVMHRTEPT AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR
RGGYRQQQSQ TAY*

speed

1.08 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems