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: ENST00000444495
Querying Taster for transcript #2: ENST00000397676
Querying Taster for transcript #3: ENST00000445626
Querying Taster for transcript #4: ENST00000455059
Querying Taster for transcript #5: ENST00000418734
MT speed 0 s - this script 4.365424 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ALG3	disease_causing_automatic	0.999999983985405	simple_aae			0	R171Q	single base exchange	rs119103236		show file
ALG3	disease_causing_automatic	0.999999992851348	simple_aae			0	R123Q	single base exchange	rs119103236		show file
ALG3	disease_causing_automatic	0.999999992851348	simple_aae			0	R131Q	single base exchange	rs119103236		show file
ALG3	disease_causing_automatic	0.999999992851348	simple_aae			0	R115Q	single base exchange	rs119103236		show file
EIF2B5	disease_causing_automatic	1	without_aae			0		single base exchange	rs119103236		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999983985405 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM087940)
known disease mutation: rs2129 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:183963079C>TN/A show variant in all transcripts IGV

HGNC symbol

ALG3

Ensembl transcript ID

ENST00000397676

Genbank transcript ID

NM_005787

UniProt peptide

Q92685

alteration type

single base exchange

alteration region

CDS

DNA changes

c.512G>A
cDNA.543G>A
g.4258G>A

AA changes

R171Q Score: 43 explain score(s)

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

171

frameshift

known variant

Reference ID: rs119103236

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

known disease mutation: rs2129 (pathogenic for ALG3-CDG) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM087940)

known disease mutation at this position, please check HGMD for details (HGMD ID CM087940)
known disease mutation at this position, please check HGMD for details (HGMD ID CM087940)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.092	0.981
	5.685	1
(flanking)	3.016	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
Acc marginally increased	4259	wt: 0.5690 / mu: 0.5755 (marginal change - not scored)	wt: CACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGGC mu: CACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGGC	gcgg\|CTCT
Acc marginally increased	4248	wt: 0.8825 / mu: 0.8905 (marginal change - not scored)	wt: CTTACCGTGTCCACTCCATCTTTGTGCTGCGGCTCTTCAAT mu: CTTACCGTGTCCACTCCATCTTTGTGCTGCAGCTCTTCAAT	atct\|TTGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

171

mutated

all conserved

171

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000018951

n/a

Fcatus

all identical

ENSFCAG00000016274

171

Mmusculus

all identical

ENSMUSG00000033809

171

Ggallus

all identical

ENSGALG00000008503

109

Trubripes

no homologue

Drerio

all identical

ENSDARG00000053155

165

Dmelanogaster

all identical

FBgn0011297

174

Celegans

all identical

K09E4.2

150

Xtropicalis

all identical

ENSXETG00000017280

173

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1317 / 1317

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

439 / 439

position of stopcodon in wt / mu cDNA

1348 / 1348

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

32 / 32

chromosome

strand

-1

last intron/exon boundary

1186

theoretical NMD boundary in CDS

1104

length of CDS

1317

coding sequence (CDS) position

512

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

543

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

4258

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

183963079

original gDNA sequence snippet

CCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGG

altered gDNA sequence snippet

CCACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGG

original cDNA sequence snippet

CCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGG

altered cDNA sequence snippet

CCACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGG

wildtype AA sequence

MAAGLRKRGR SGSAAQAEGL CKQWLQRAWQ ERRLLLREPR YTLLVAACLC LAEVGITFWV
IHRVAYTEID WKAYMAEVEG VINGTYDYTQ LQGDTGPLVY PAGFVYIFMG LYYATSRGTD
IRMAQNIFAV LYLATLLLVF LIYHQTCKVP PFVFFFMCCA SYRVHSIFVL RLFNDPVAMV
LLFLSINLLL AQRWGWGCCF FSLAVSVKMN VLLFAPGLLF LLLTQFGFRG ALPKLGICAG
LQVVLGLPFL LENPSGYLSR SFDLGRQFLF HWTVNWRFLP EALFLHRAFH LALLTAHLTL
LLLFALCRWH RTGESILSLL RDPSKRKVPP QPLTPNQIVS TLFTSNFIGI CFSRSLHYQF
YVWYFHTLPY LLWAMPARWL THLLRLLVLG LIELSWNTYP STSCSSAALH ICHAVILLQL
WLGPQPFPKS TQHSKKAH*

mutated AA sequence

MAAGLRKRGR SGSAAQAEGL CKQWLQRAWQ ERRLLLREPR YTLLVAACLC LAEVGITFWV
IHRVAYTEID WKAYMAEVEG VINGTYDYTQ LQGDTGPLVY PAGFVYIFMG LYYATSRGTD
IRMAQNIFAV LYLATLLLVF LIYHQTCKVP PFVFFFMCCA SYRVHSIFVL QLFNDPVAMV
LLFLSINLLL AQRWGWGCCF FSLAVSVKMN VLLFAPGLLF LLLTQFGFRG ALPKLGICAG
LQVVLGLPFL LENPSGYLSR SFDLGRQFLF HWTVNWRFLP EALFLHRAFH LALLTAHLTL
LLLFALCRWH RTGESILSLL RDPSKRKVPP QPLTPNQIVS TLFTSNFIGI CFSRSLHYQF
YVWYFHTLPY LLWAMPARWL THLLRLLVLG LIELSWNTYP STSCSSAALH ICHAVILLQL
WLGPQPFPKS TQHSKKAH*

speed

0.58 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: 0.999999992851348 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM087940)
known disease mutation: rs2129 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:183963079C>TN/A show variant in all transcripts IGV

HGNC symbol

ALG3

Ensembl transcript ID

ENST00000445626

Genbank transcript ID

NM_001006941

UniProt peptide

Q92685

alteration type

single base exchange

alteration region

CDS

DNA changes

c.368G>A
cDNA.639G>A
g.4258G>A

AA changes

R123Q Score: 43 explain score(s)

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

123

frameshift

known variant

Reference ID: rs119103236

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.092	0.981
	5.685	1
(flanking)	3.016	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
Acc marginally increased	4259	wt: 0.5690 / mu: 0.5755 (marginal change - not scored)	wt: CACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGGC mu: CACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGGC	gcgg\|CTCT
Acc marginally increased	4248	wt: 0.8825 / mu: 0.8905 (marginal change - not scored)	wt: CTTACCGTGTCCACTCCATCTTTGTGCTGCGGCTCTTCAAT mu: CTTACCGTGTCCACTCCATCTTTGTGCTGCAGCTCTTCAAT	atct\|TTGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

123

mutated

all conserved

123

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000018951

n/a

Fcatus

all identical

ENSFCAG00000016274

171

Mmusculus

all identical

ENSMUSG00000033809

171

Ggallus

all identical

ENSGALG00000008503

109

Trubripes

no homologue

Drerio

all identical

ENSDARG00000053155

165

Dmelanogaster

all identical

FBgn0011297

174

Celegans

all identical

K09E4.2

150

Xtropicalis

all identical

ENSXETG00000017280

173

protein features

start (aa)	end (aa)	feature	details
123	143	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1173 / 1173

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

391 / 391

position of stopcodon in wt / mu cDNA

1444 / 1444

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

272 / 272

chromosome

strand

-1

last intron/exon boundary

1282

theoretical NMD boundary in CDS

960

length of CDS

1173

coding sequence (CDS) position

368

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

639

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

4258

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

183963079

original gDNA sequence snippet

CCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGG

altered gDNA sequence snippet

CCACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGG

original cDNA sequence snippet

CCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGG

altered cDNA sequence snippet

CCACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGG

wildtype AA sequence

MFPAQAKENA GFSGCGGDTE IDWKAYMAEV EGVINGTYDY TQLQGDTGPL VYPAGFVYIF
MGLYYATSRG TDIRMAQNIF AVLYLATLLL VFLIYHQTCK VPPFVFFFMC CASYRVHSIF
VLRLFNDPVA MVLLFLSINL LLAQRWGWGC CFFSLAVSVK MNVLLFAPGL LFLLLTQFGF
RGALPKLGIC AGLQVVLGLP FLLENPSGYL SRSFDLGRQF LFHWTVNWRF LPEALFLHRA
FHLALLTAHL TLLLLFALCR WHRTGESILS LLRDPSKRKV PPQPLTPNQI VSTLFTSNFI
GICFSRSLHY QFYVWYFHTL PYLLWAMPAR WLTHLLRLLV LGLIELSWNT YPSTSCSSAA
LHICHAVILL QLWLGPQPFP KSTQHSKKAH *

mutated AA sequence

MFPAQAKENA GFSGCGGDTE IDWKAYMAEV EGVINGTYDY TQLQGDTGPL VYPAGFVYIF
MGLYYATSRG TDIRMAQNIF AVLYLATLLL VFLIYHQTCK VPPFVFFFMC CASYRVHSIF
VLQLFNDPVA MVLLFLSINL LLAQRWGWGC CFFSLAVSVK MNVLLFAPGL LFLLLTQFGF
RGALPKLGIC AGLQVVLGLP FLLENPSGYL SRSFDLGRQF LFHWTVNWRF LPEALFLHRA
FHLALLTAHL TLLLLFALCR WHRTGESILS LLRDPSKRKV PPQPLTPNQI VSTLFTSNFI
GICFSRSLHY QFYVWYFHTL PYLLWAMPAR WLTHLLRLLV LGLIELSWNT YPSTSCSSAA
LHICHAVILL QLWLGPQPFP KSTQHSKKAH *

speed

0.64 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999992851348 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM087940)
known disease mutation: rs2129 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:183963079C>TN/A show variant in all transcripts IGV

HGNC symbol

ALG3

Ensembl transcript ID

ENST00000455059

Genbank transcript ID

N/A

UniProt peptide

Q92685

alteration type

single base exchange

alteration region

CDS

DNA changes

c.392G>A
cDNA.847G>A
g.4258G>A

AA changes

R131Q Score: 43 explain score(s)

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

131

frameshift

known variant

Reference ID: rs119103236

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.092	0.981
	5.685	1
(flanking)	3.016	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
Acc marginally increased	4259	wt: 0.5690 / mu: 0.5755 (marginal change - not scored)	wt: CACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGGC mu: CACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGGC	gcgg\|CTCT
Acc marginally increased	4248	wt: 0.8825 / mu: 0.8905 (marginal change - not scored)	wt: CTTACCGTGTCCACTCCATCTTTGTGCTGCGGCTCTTCAAT mu: CTTACCGTGTCCACTCCATCTTTGTGCTGCAGCTCTTCAAT	atct\|TTGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

131

mutated

all conserved

131

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000018951

n/a

Fcatus

all identical

ENSFCAG00000016274

171

Mmusculus

all identical

ENSMUSG00000033809

171

Ggallus

all identical

ENSGALG00000008503

109

Trubripes

no homologue

Drerio

all identical

ENSDARG00000053155

165

Dmelanogaster

all identical

FBgn0011297

174

Celegans

all identical

K09E4.2

150

Xtropicalis

all identical

ENSXETG00000017280

173

protein features

start (aa)	end (aa)	feature	details
123	143	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1197 / 1197

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

399 / 399

position of stopcodon in wt / mu cDNA

1652 / 1652

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

456 / 456

chromosome

strand

-1

last intron/exon boundary

1490

theoretical NMD boundary in CDS

984

length of CDS

1197

coding sequence (CDS) position

392

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

847

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

4258

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

183963079

original gDNA sequence snippet

CCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGG

altered gDNA sequence snippet

CCACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGG

original cDNA sequence snippet

CCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGG

altered cDNA sequence snippet

CCACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGG

wildtype AA sequence

MKTGYSDRRL AWWDARHGKR NLSVEDTEID WKAYMAEVEG VINGTYDYTQ LQGDTGPLVY
PAGFVYIFMG LYYATSRGTD IRMAQNIFAV LYLATLLLVF LIYHQTCKVP PFVFFFMCCA
SYRVHSIFVL RLFNDPVAMV LLFLSINLLL AQRWGWGCCF FSLAVSVKMN VLLFAPGLLF
LLLTQFGFRG ALPKLGICAG LQVVLGLPFL LENPSGYLSR SFDLGRQFLF HWTVNWRFLP
EALFLHRAFH LALLTAHLTL LLLFALCRWH RTGESILSLL RDPSKRKVPP QPLTPNQIVS
TLFTSNFIGI CFSRSLHYQF YVWYFHTLPY LLWAMPARWL THLLRLLVLG LIELSWNTYP
STSCSSAALH ICHAVILLQL WLGPQPFPKS TQHSKKAH*

mutated AA sequence

MKTGYSDRRL AWWDARHGKR NLSVEDTEID WKAYMAEVEG VINGTYDYTQ LQGDTGPLVY
PAGFVYIFMG LYYATSRGTD IRMAQNIFAV LYLATLLLVF LIYHQTCKVP PFVFFFMCCA
SYRVHSIFVL QLFNDPVAMV LLFLSINLLL AQRWGWGCCF FSLAVSVKMN VLLFAPGLLF
LLLTQFGFRG ALPKLGICAG LQVVLGLPFL LENPSGYLSR SFDLGRQFLF HWTVNWRFLP
EALFLHRAFH LALLTAHLTL LLLFALCRWH RTGESILSLL RDPSKRKVPP QPLTPNQIVS
TLFTSNFIGI CFSRSLHYQF YVWYFHTLPY LLWAMPARWL THLLRLLVLG LIELSWNTYP
STSCSSAALH ICHAVILLQL WLGPQPFPKS TQHSKKAH*

speed

0.64 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999992851348 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM087940)
known disease mutation: rs2129 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:183963079C>TN/A show variant in all transcripts IGV

HGNC symbol

ALG3

Ensembl transcript ID

ENST00000418734

Genbank transcript ID

N/A

UniProt peptide

Q92685

alteration type

single base exchange

alteration region

CDS

DNA changes

c.344G>A
cDNA.434G>A
g.4258G>A

AA changes

R115Q Score: 43 explain score(s)

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

115

frameshift

known variant

Reference ID: rs119103236

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.092	0.981
	5.685	1
(flanking)	3.016	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
Acc marginally increased	4259	wt: 0.5690 / mu: 0.5755 (marginal change - not scored)	wt: CACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGGC mu: CACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGGC	gcgg\|CTCT
Acc marginally increased	4248	wt: 0.8825 / mu: 0.8905 (marginal change - not scored)	wt: CTTACCGTGTCCACTCCATCTTTGTGCTGCGGCTCTTCAAT mu: CTTACCGTGTCCACTCCATCTTTGTGCTGCAGCTCTTCAAT	atct\|TTGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

115

mutated

all conserved

115

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000018951

n/a

Fcatus

all identical

ENSFCAG00000016274

171

Mmusculus

all identical

ENSMUSG00000033809

171

Ggallus

all identical

ENSGALG00000008503

109

Trubripes

no homologue

Drerio

all identical

ENSDARG00000053155

165

Dmelanogaster

all identical

FBgn0011297

174

Celegans

all identical

K09E4.2

150

Xtropicalis

all identical

ENSXETG00000017280

173

protein features

start (aa)	end (aa)	feature	details
95	115	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1149 / 1149

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

383 / 383

position of stopcodon in wt / mu cDNA

1239 / 1239

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

91 / 91

chromosome

strand

-1

last intron/exon boundary

1077

theoretical NMD boundary in CDS

936

length of CDS

1149

coding sequence (CDS) position

344

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

434

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

4258

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

183963079

original gDNA sequence snippet

CCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGG

altered gDNA sequence snippet

CCACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGG

original cDNA sequence snippet

CCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGG

altered cDNA sequence snippet

CCACTCCATCTTTGTGCTGCAGCTCTTCAATGACCCAGTGG

wildtype AA sequence

MAAARLARAA PAAAGAALHA AGGRLPLPGG GGHHLLGHSQ GGMYPAGFVY IFMGLYYATS
RGTDIRMAQN IFAVLYLATL LLVFLIYHQT CKVPPFVFFF MCCASYRVHS IFVLRLFNDP
VAMVLLFLSI NLLLAQRWGW GCCFFSLAVS VKMNVLLFAP GLLFLLLTQF GFRGALPKLG
ICAGLQVVLG LPFLLENPSG YLSRSFDLGR QFLFHWTVNW RFLPEALFLH RAFHLALLTA
HLTLLLLFAL CRWHRTGESI LSLLRDPSKR KVPPQPLTPN QIVSTLFTSN FIGICFSRSL
HYQFYVWYFH TLPYLLWAMP ARWLTHLLRL LVLGLIELSW NTYPSTSCSS AALHICHAVI
LLQLWLGPQP FPKSTQHSKK AH*

mutated AA sequence

MAAARLARAA PAAAGAALHA AGGRLPLPGG GGHHLLGHSQ GGMYPAGFVY IFMGLYYATS
RGTDIRMAQN IFAVLYLATL LLVFLIYHQT CKVPPFVFFF MCCASYRVHS IFVLQLFNDP
VAMVLLFLSI NLLLAQRWGW GCCFFSLAVS VKMNVLLFAP GLLFLLLTQF GFRGALPKLG
ICAGLQVVLG LPFLLENPSG YLSRSFDLGR QFLFHWTVNW RFLPEALFLH RAFHLALLTA
HLTLLLLFAL CRWHRTGESI LSLLRDPSKR KVPPQPLTPN QIVSTLFTSN FIGICFSRSL
HYQFYVWYFH TLPYLLWAMP ARWLTHLLRL LVLGLIELSW NTYPSTSCSS AALHICHAVI
LLQLWLGPQP FPKSTQHSKK AH*

speed

1.05 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM087940)
known disease mutation: rs2129 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:183963079C>TN/A show variant in all transcripts IGV

HGNC symbol

EIF2B5

Ensembl transcript ID

ENST00000444495

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.110254C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs119103236

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.092	0.981
	5.685	1
(flanking)	3.016	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 marginally increased	110258	wt: 0.2602 / mu: 0.2738 (marginal change - not scored)	wt: CCGCAGCACAAAGAT mu: CTGCAGCACAAAGAT	GCAG\|caca
Donor marginally increased	110259	wt: 0.9473 / mu: 0.9538 (marginal change - not scored)	wt: CGCAGCACAAAGATG mu: TGCAGCACAAAGATG	CAGC\|acaa

distance from splice site

99999

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

11 / 11

chromosome

strand

last intron/exon boundary

2117

theoretical NMD boundary in CDS

2056

length of CDS

2118

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)

110254

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

183963079

original gDNA sequence snippet

CCACTGGGTCATTGAAGAGCCGCAGCACAAAGATGGAGTGG

altered gDNA sequence snippet

CCACTGGGTCATTGAAGAGCTGCAGCACAAAGATGGAGTGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQVVC*

mutated AA sequence

N/A

speed

0.44 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