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: ENST00000535729
Querying Taster for transcript #2: ENST00000431221
Querying Taster for transcript #3: ENST00000547005
Querying Taster for transcript #4: ENST00000311893
Querying Taster for transcript #5: ENST00000392807
Querying Taster for transcript #6: ENST00000539593
Querying Taster for transcript #7: ENST00000338291
MT speed 0 s - this script 5.872986 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ISCU	polymorphism_automatic	0.9763468106922	simple_aae		affected		A12V	single base exchange	rs2287555		show file
ISCU	polymorphism_automatic	0.9763468106922	simple_aae		affected		A12V	single base exchange	rs2287555		show file
ISCU	polymorphism_automatic	0.9763468106922	simple_aae		affected		A12V	single base exchange	rs2287555		show file
ISCU	polymorphism_automatic	0.9763468106922	simple_aae		affected		A12V	single base exchange	rs2287555		show file
ISCU	polymorphism_automatic	0.9763468106922	simple_aae		affected		A12V	single base exchange	rs2287555		show file
ISCU	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2287555		show file
ISCU	polymorphism_automatic	1	without_aae		affected			single base exchange	rs2287555		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0236531893078002 (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)

chr12:108956433C>TN/A show variant in all transcripts IGV

HGNC symbol

ISCU

Ensembl transcript ID

ENST00000535729

Genbank transcript ID

N/A

UniProt peptide

Q9H1K1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.35C>T
cDNA.57C>T
g.76C>T

AA changes

A12V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs2287555

database	homozygous (T/T)	heterozygous	allele carriers
1000G	728	1086	1814
ExAC	1659	2437	4096

regulatory features

ATF3, Transcription Factor, ATF3 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Jund, Transcription Factor, Jund TF binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Srf, Transcription Factor, Srf TF binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.066	0.995
	1.75	0.934
(flanking)	-0.961	0.097

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	67	wt: 0.8977 / mu: 0.9070 (marginal change - not scored)	wt: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTC mu: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTC	gtct\|GAGG
Acc marginally increased	69	wt: 0.8106 / mu: 0.8296 (marginal change - not scored)	wt: CGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTG mu: CGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTG	ctga\|GGCG
Donor increased	69	wt: 0.57 / mu: 0.82	wt: GTCTGAGGCGGGCGG mu: GTCTGAGGCGGGTGG	CTGA\|ggcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040156

Mmulatta

all identical

ENSMMUG00000017126

Fcatus

all identical

ENSFCAG00000014044

Mmusculus

all identical

ENSMUSG00000025825

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000035596

Dmelanogaster

no alignment

FBgn0037637

n/a

Celegans

all conserved

Y45F10D.4

Xtropicalis

no alignment

ENSXETG00000027428

n/a

protein features

start (aa)	end (aa)	feature	details
1	34	TRANSIT	Mitochondrion (Potential).	lost
14	14	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

465 / 465

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

155 / 155

position of stopcodon in wt / mu cDNA

487 / 487

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

23 / 23

chromosome

strand

last intron/exon boundary

441

theoretical NMD boundary in CDS

368

length of CDS

465

coding sequence (CDS) position

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

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

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

108956433

original gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

original cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

wildtype AA sequence

MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSK SVLFPAEEKT QLSP*

mutated AA sequence

MAAAGAFRLR RVASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSK SVLFPAEEKT QLSP*

speed

0.45 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: 0.0236531893078002 (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)

chr12:108956433C>TN/A show variant in all transcripts IGV

HGNC symbol

ISCU

Ensembl transcript ID

ENST00000431221

Genbank transcript ID

N/A

UniProt peptide

Q9H1K1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.35C>T
cDNA.57C>T
g.76C>T

AA changes

A12V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs2287555

database	homozygous (T/T)	heterozygous	allele carriers
1000G	728	1086	1814
ExAC	1659	2437	4096

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.066	0.995
	1.75	0.934
(flanking)	-0.961	0.097

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	67	wt: 0.8977 / mu: 0.9070 (marginal change - not scored)	wt: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTC mu: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTC	gtct\|GAGG
Acc marginally increased	69	wt: 0.8106 / mu: 0.8296 (marginal change - not scored)	wt: CGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTG mu: CGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTG	ctga\|GGCG
Donor increased	69	wt: 0.57 / mu: 0.82	wt: GTCTGAGGCGGGCGG mu: GTCTGAGGCGGGTGG	CTGA\|ggcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040156

Mmulatta

all identical

ENSMMUG00000017126

Fcatus

all identical

ENSFCAG00000014044

Mmusculus

all identical

ENSMUSG00000025825

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000035596

Dmelanogaster

no alignment

FBgn0037637

n/a

Celegans

all conserved

Y45F10D.4

Xtropicalis

no alignment

ENSXETG00000027428

n/a

protein features

start (aa)	end (aa)	feature	details
1	34	TRANSIT	Mitochondrion (Potential).	lost
14	14	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

471 / 471

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

157 / 157

position of stopcodon in wt / mu cDNA

493 / 493

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

23 / 23

chromosome

strand

last intron/exon boundary

538

theoretical NMD boundary in CDS

465

length of CDS

471

coding sequence (CDS) position

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

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

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

108956433

original gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

original cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

wildtype AA sequence

MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSR KEGMRNISLN ASMEVY*

mutated AA sequence

MAAAGAFRLR RVASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSR KEGMRNISLN ASMEVY*

speed

1.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0236531893078003 (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)

chr12:108956433C>TN/A show variant in all transcripts IGV

HGNC symbol

ISCU

Ensembl transcript ID

ENST00000547005

Genbank transcript ID

N/A

UniProt peptide

Q9H1K1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.35C>T
cDNA.57C>T
g.76C>T

AA changes

A12V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs2287555

database	homozygous (T/T)	heterozygous	allele carriers
1000G	728	1086	1814
ExAC	1659	2437	4096

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.066	0.995
	1.75	0.934
(flanking)	-0.961	0.097

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	67	wt: 0.8977 / mu: 0.9070 (marginal change - not scored)	wt: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTC mu: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTC	gtct\|GAGG
Acc marginally increased	69	wt: 0.8106 / mu: 0.8296 (marginal change - not scored)	wt: CGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTG mu: CGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTG	ctga\|GGCG
Donor increased	69	wt: 0.57 / mu: 0.82	wt: GTCTGAGGCGGGCGG mu: GTCTGAGGCGGGTGG	CTGA\|ggcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040156

Mmulatta

all identical

ENSMMUG00000017126

Fcatus

all identical

ENSFCAG00000014044

Mmusculus

all identical

ENSMUSG00000025825

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000035596

Dmelanogaster

no alignment

FBgn0037637

n/a

Celegans

all conserved

Y45F10D.4

Xtropicalis

no alignment

ENSXETG00000027428

n/a

protein features

start (aa)	end (aa)	feature	details
1	34	TRANSIT	Mitochondrion (Potential).	lost
14	14	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

465 / 465

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

155 / 155

position of stopcodon in wt / mu cDNA

487 / 487

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

23 / 23

chromosome

strand

last intron/exon boundary

527

theoretical NMD boundary in CDS

454

length of CDS

465

coding sequence (CDS) position

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

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

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

108956433

original gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

original cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

wildtype AA sequence

MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSK SVLFPAEEKT QLSP*

mutated AA sequence

MAAAGAFRLR RVASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSK SVLFPAEEKT QLSP*

speed

1.39 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0236531893078002 (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)

chr12:108956433C>TN/A show variant in all transcripts IGV

HGNC symbol

ISCU

Ensembl transcript ID

ENST00000311893

Genbank transcript ID

NM_213595

UniProt peptide

Q9H1K1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.35C>T
cDNA.57C>T
g.76C>T

AA changes

A12V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs2287555

database	homozygous (T/T)	heterozygous	allele carriers
1000G	728	1086	1814
ExAC	1659	2437	4096

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.066	0.995
	1.75	0.934
(flanking)	-0.961	0.097

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	67	wt: 0.8977 / mu: 0.9070 (marginal change - not scored)	wt: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTC mu: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTC	gtct\|GAGG
Acc marginally increased	69	wt: 0.8106 / mu: 0.8296 (marginal change - not scored)	wt: CGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTG mu: CGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTG	ctga\|GGCG
Donor increased	69	wt: 0.57 / mu: 0.82	wt: GTCTGAGGCGGGCGG mu: GTCTGAGGCGGGTGG	CTGA\|ggcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040156

Mmulatta

all identical

ENSMMUG00000017126

Fcatus

all identical

ENSFCAG00000014044

Mmusculus

all identical

ENSMUSG00000025825

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000035596

Dmelanogaster

no alignment

FBgn0037637

n/a

Celegans

all conserved

Y45F10D.4

Xtropicalis

no alignment

ENSXETG00000027428

n/a

protein features

start (aa)	end (aa)	feature	details
1	34	TRANSIT	Mitochondrion (Potential).	lost
14	14	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

504 / 504

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

168 / 168

position of stopcodon in wt / mu cDNA

526 / 526

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

23 / 23

chromosome

strand

last intron/exon boundary

441

theoretical NMD boundary in CDS

368

length of CDS

504

coding sequence (CDS) position

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

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

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

108956433

original gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

original cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

wildtype AA sequence

MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSM LAEDAIKAAL ADYKLKQEPK KGEAEKK*

mutated AA sequence

MAAAGAFRLR RVASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSM LAEDAIKAAL ADYKLKQEPK KGEAEKK*

speed

0.46 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0236531893078002 (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)

chr12:108956433C>TN/A show variant in all transcripts IGV

HGNC symbol

ISCU

Ensembl transcript ID

ENST00000539593

Genbank transcript ID

N/A

UniProt peptide

Q9H1K1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.35C>T
cDNA.48C>T
g.76C>T

AA changes

A12V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs2287555

database	homozygous (T/T)	heterozygous	allele carriers
1000G	728	1086	1814
ExAC	1659	2437	4096

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.066	0.995
	1.75	0.934
(flanking)	-0.961	0.097

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	67	wt: 0.8977 / mu: 0.9070 (marginal change - not scored)	wt: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTC mu: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTC	gtct\|GAGG
Acc marginally increased	69	wt: 0.8106 / mu: 0.8296 (marginal change - not scored)	wt: CGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTG mu: CGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTG	ctga\|GGCG
Donor increased	69	wt: 0.57 / mu: 0.82	wt: GTCTGAGGCGGGCGG mu: GTCTGAGGCGGGTGG	CTGA\|ggcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000040156

Mmulatta

all identical

ENSMMUG00000017126

Fcatus

all identical

ENSFCAG00000014044

Mmusculus

all identical

ENSMUSG00000025825

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000035596

Dmelanogaster

no alignment

FBgn0037637

n/a

Celegans

all conserved

Y45F10D.4

Xtropicalis

no alignment

ENSXETG00000027428

n/a

protein features

start (aa)	end (aa)	feature	details
1	34	TRANSIT	Mitochondrion (Potential).	lost
14	14	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

465 / 465

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

155 / 155

position of stopcodon in wt / mu cDNA

478 / 478

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

14 / 14

chromosome

strand

last intron/exon boundary

353

theoretical NMD boundary in CDS

289

length of CDS

465

coding sequence (CDS) position

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

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

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

108956433

original gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

original cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

wildtype AA sequence

MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSS KSLLSIPVSW DIWQ*

mutated AA sequence

MAAAGAFRLR RVASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG SLDKTSKNVG
TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA SSSLATEWVK GKTVEEALTI
KNTDIAKELC LPPVKLHCSS KSLLSIPVSW DIWQ*

speed

0.45 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.59268526953699e-18 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr12:108956433C>TN/A show variant in all transcripts IGV

HGNC symbol

ISCU

Ensembl transcript ID

ENST00000392807

Genbank transcript ID

NM_014301

UniProt peptide

Q9H1K1

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.52C>T
g.76C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2287555

database	homozygous (T/T)	heterozygous	allele carriers
1000G	728	1086	1814
ExAC	1659	2437	4096

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.066	0.995
	1.75	0.934
(flanking)	-0.961	0.097

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

splice sites

splice site change before start ATG (at aa -47) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	67	wt: 0.8977 / mu: 0.9070 (marginal change - not scored)	wt: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTC mu: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTC	gtct\|GAGG
Acc marginally increased	69	wt: 0.8106 / mu: 0.8296 (marginal change - not scored)	wt: CGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTG mu: CGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTG	ctga\|GGCG
Donor increased	69	wt: 0.57 / mu: 0.82	wt: GTCTGAGGCGGGCGG mu: GTCTGAGGCGGGTGG	CTGA\|ggcg

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	34	TRANSIT	Mitochondrion (Potential).	might get lost (downstream of altered splice site)
7	7	CONFLICT	F -> G (in Ref. 1; AAG37428 and 3; AAH11906).	might get lost (downstream of altered splice site)
14	14	MOD_RES	Phosphoserine.	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

189 / 189

chromosome

strand

last intron/exon boundary

532

theoretical NMD boundary in CDS

293

length of CDS

429

coding sequence (CDS) position

N/A

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

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

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

108956433

original gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

original cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

wildtype AA sequence

MVLIDMSVDL STQVVDHYEN PRNVGSLDKT SKNVGTGLVG APACGDVMKL QIQVDEKGKI
VDARFKTFGC GSAIASSSLA TEWVKGKTVE EALTIKNTDI AKELCLPPVK LHCSMLAEDA
IKAALADYKL KQEPKKGEAE KK*

mutated AA sequence

N/A

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.59268526953699e-18 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr12:108956433C>TN/A show variant in all transcripts IGV

HGNC symbol

ISCU

Ensembl transcript ID

ENST00000338291

Genbank transcript ID

N/A

UniProt peptide

Q9H1K1

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.52C>T
g.76C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2287555

database	homozygous (T/T)	heterozygous	allele carriers
1000G	728	1086	1814
ExAC	1659	2437	4096

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.066	0.995
	1.75	0.934
(flanking)	-0.961	0.097

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

splice sites

splice site change before start ATG (at aa -47) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	67	wt: 0.8977 / mu: 0.9070 (marginal change - not scored)	wt: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTC mu: GGCGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTC	gtct\|GAGG
Acc marginally increased	69	wt: 0.8106 / mu: 0.8296 (marginal change - not scored)	wt: CGGCTGGGGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTG mu: CGGCTGGGGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTG	ctga\|GGCG
Donor increased	69	wt: 0.57 / mu: 0.82	wt: GTCTGAGGCGGGCGG mu: GTCTGAGGCGGGTGG	CTGA\|ggcg

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	34	TRANSIT	Mitochondrion (Potential).	might get lost (downstream of altered splice site)
7	7	CONFLICT	F -> G (in Ref. 1; AAG37428 and 3; AAH11906).	might get lost (downstream of altered splice site)
14	14	MOD_RES	Phosphoserine.	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

189 / 189

chromosome

strand

last intron/exon boundary

632

theoretical NMD boundary in CDS

393

length of CDS

390

coding sequence (CDS) position

N/A

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

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

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

108956433

original gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered gDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

original cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGCGGCATCGGCTCTGCTGCTGC

altered cDNA sequence snippet

GGCTTTCCGTCTGAGGCGGGTGGCATCGGCTCTGCTGCTGC

wildtype AA sequence

MVLIDMSVDL STQVVDHYEN PRNVGSLDKT SKNVGTGLVG APACGDVMKL QIQVDEKGKI
VDARFKTFGC GSAIASSSLA TEWVKGKTVE EALTIKNTDI AKELCLPPVK LHCSKSVLFP
AEEKTQLSP*

mutated AA sequence

N/A

speed

1.06 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