MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000352580
Querying Taster for transcript #2: ENST00000283635
Querying Taster for transcript #3: ENST00000409511
Querying Taster for transcript #4: ENST00000409781
Querying Taster for transcript #5: ENST00000538832
Querying Taster for transcript #6: ENST00000456996
MT speed 0 s - this script 3.712994 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CD8A	disease_causing_automatic	0.99772893954373	simple_aae		affected	0	G152S	single base exchange	rs121918660		show file
CD8A	disease_causing_automatic	0.999697441095521	simple_aae		affected	0	G111S	single base exchange	rs121918660		show file
CD8A	disease_causing_automatic	0.999697441095521	simple_aae		affected	0	G111S	single base exchange	rs121918660		show file
CD8A	disease_causing_automatic	0.999697441095521	simple_aae		affected	0	G111S	single base exchange	rs121918660		show file
CD8A	disease_causing_automatic	0.999697441095521	simple_aae		affected	0	G111S	single base exchange	rs121918660		show file
CD8A	disease_causing_automatic	0.999697441095521	simple_aae		affected	0	G111S	single base exchange	rs121918660		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99772893954373 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012083)
known disease mutation: rs12742 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:87017523C>TN/A show variant in all transcripts IGV

HGNC symbol

CD8A

Ensembl transcript ID

ENST00000538832

Genbank transcript ID

N/A

UniProt peptide

P01732

alteration type

single base exchange

alteration region

CDS

DNA changes

c.454G>A
cDNA.772G>A
g.17997G>A

AA changes

G152S Score: 56 explain score(s)

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

152

frameshift

known variant

Reference ID: rs121918660

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs12742 (pathogenic for Cd8 deficiency, familial) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012083)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012083)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012083)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.763	0.999
	2.763	0.968
(flanking)	-0.934	0.053

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	17993	0.75	mu: GAGAACGAGAGCTAC	GAAC\|gaga
Donor gained	17997	0.83	mu: ACGAGAGCTACTATT	GAGA\|gcta
Donor gained	17992	0.74	mu: AGAGAACGAGAGCTA	AGAA\|cgag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

152

mutated

not conserved

152

Ptroglodytes

all identical

ENSPTRG00000012159

152

Mmulatta

all identical

ENSMMUG00000003524

111

Fcatus

all identical

ENSFCAG00000014826

114

Mmusculus

all identical

ENSMUSG00000053977

120

Ggallus

all identical

ENSGALG00000015816

115

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	182	TOPO_DOM	Extracellular (Potential).	lost
183	203	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
204	235	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

831 / 831

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

277 / 277

position of stopcodon in wt / mu cDNA

1149 / 1149

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

319 / 319

chromosome

strand

-1

last intron/exon boundary

1098

theoretical NMD boundary in CDS

729

length of CDS

831

coding sequence (CDS) position

454

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

772

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

17997

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

87017523

original gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

original cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

wildtype AA sequence

MRNQAPGRPK GATFPPRRPT GSRAPPLAPE LRAKQRPGER VMALPVTALL LPLALLLHAA
RPSQFRVSPL DRTWNLGETV ELKCQVLLSN PTSGCSWLFQ PRGAAASPTF LLYLSQNKPK
AAEGLDTQRF SGKRLGDTFV LTLSDFRREN EGYYFCSALS NSIMYFSHFV PVFLPAKPTT
TPAPRPPTPA PTIASQPLSL RPEACRPAAG GAVHTRGLDF ACDIYIWAPL AGTCGVLLLS
LVITLYCNHR NRRRVCKCPR PVVKSGDKPS LSARYV*

mutated AA sequence

MRNQAPGRPK GATFPPRRPT GSRAPPLAPE LRAKQRPGER VMALPVTALL LPLALLLHAA
RPSQFRVSPL DRTWNLGETV ELKCQVLLSN PTSGCSWLFQ PRGAAASPTF LLYLSQNKPK
AAEGLDTQRF SGKRLGDTFV LTLSDFRREN ESYYFCSALS NSIMYFSHFV PVFLPAKPTT
TPAPRPPTPA PTIASQPLSL RPEACRPAAG GAVHTRGLDF ACDIYIWAPL AGTCGVLLLS
LVITLYCNHR NRRRVCKCPR PVVKSGDKPS LSARYV*

speed

0.35 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: 0.999697441095521 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012083)
known disease mutation: rs12742 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:87017523C>TN/A show variant in all transcripts IGV

HGNC symbol

CD8A

Ensembl transcript ID

ENST00000352580

Genbank transcript ID

N/A

UniProt peptide

P01732

alteration type

single base exchange

alteration region

CDS

DNA changes

c.331G>A
cDNA.401G>A
g.17997G>A

AA changes

G111S Score: 56 explain score(s)

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

111

frameshift

known variant

Reference ID: rs121918660

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.763	0.999
	2.763	0.968
(flanking)	-0.934	0.053

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	17993	0.75	mu: GAGAACGAGAGCTAC	GAAC\|gaga
Donor gained	17997	0.83	mu: ACGAGAGCTACTATT	GAGA\|gcta
Donor gained	17992	0.74	mu: AGAGAACGAGAGCTA	AGAA\|cgag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

111

mutated

not conserved

111

Ptroglodytes

all identical

ENSPTRG00000012159

152

Mmulatta

all identical

ENSMMUG00000003524

111

Fcatus

all identical

ENSFCAG00000014826

114

Mmusculus

all identical

ENSMUSG00000053977

120

Ggallus

all identical

ENSGALG00000015816

115

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	135	DOMAIN	Ig-like V-type.	lost
22	182	TOPO_DOM	Extracellular (Potential).	lost
107	109	HELIX		might get lost (downstream of altered splice site)
111	111	MUTAGEN	G->R: Prevents CD8 expression.	lost
111	119	STRAND		lost
115	115	DISULFID		might get lost (downstream of altered splice site)
122	125	STRAND		might get lost (downstream of altered splice site)
129	131	STRAND		might get lost (downstream of altered splice site)
183	203	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
204	235	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

597 / 597

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

199 / 199

position of stopcodon in wt / mu cDNA

667 / 667

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

71 / 71

chromosome

strand

-1

last intron/exon boundary

616

theoretical NMD boundary in CDS

495

length of CDS

597

coding sequence (CDS) position

331

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

401

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

17997

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

87017523

original gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

original cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

wildtype AA sequence

MALPVTALLL PLALLLHAAR PSQFRVSPLD RTWNLGETVE LKCQVLLSNP TSGCSWLFQP
RGAAASPTFL LYLSQNKPKA AEGLDTQRFS GKRLGDTFVL TLSDFRRENE GYYFCSALSN
SIMYFSHFVP VFLPAKPTTT PAPRPPTPAP TIASQPLSLR PEACRPAAGG AGNRRRVCKC
PRPVVKSGDK PSLSARYV*

mutated AA sequence

MALPVTALLL PLALLLHAAR PSQFRVSPLD RTWNLGETVE LKCQVLLSNP TSGCSWLFQP
RGAAASPTFL LYLSQNKPKA AEGLDTQRFS GKRLGDTFVL TLSDFRRENE SYYFCSALSN
SIMYFSHFVP VFLPAKPTTT PAPRPPTPAP TIASQPLSLR PEACRPAAGG AGNRRRVCKC
PRPVVKSGDK PSLSARYV*

speed

0.31 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999697441095521 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012083)
known disease mutation: rs12742 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:87017523C>TN/A show variant in all transcripts IGV

HGNC symbol

CD8A

Ensembl transcript ID

ENST00000283635

Genbank transcript ID

NM_001768

UniProt peptide

P01732

alteration type

single base exchange

alteration region

CDS

DNA changes

c.331G>A
cDNA.1186G>A
g.17997G>A

AA changes

G111S Score: 56 explain score(s)

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

111

frameshift

known variant

Reference ID: rs121918660

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.763	0.999
	2.763	0.968
(flanking)	-0.934	0.053

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	17993	0.75	mu: GAGAACGAGAGCTAC	GAAC\|gaga
Donor gained	17997	0.83	mu: ACGAGAGCTACTATT	GAGA\|gcta
Donor gained	17992	0.74	mu: AGAGAACGAGAGCTA	AGAA\|cgag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

111

mutated

not conserved

111

Ptroglodytes

all identical

ENSPTRG00000012159

152

Mmulatta

all identical

ENSMMUG00000003524

111

Fcatus

all identical

ENSFCAG00000014826

114

Mmusculus

all identical

ENSMUSG00000053977

120

Ggallus

all identical

ENSGALG00000015816

115

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	135	DOMAIN	Ig-like V-type.	lost
22	182	TOPO_DOM	Extracellular (Potential).	lost
107	109	HELIX		might get lost (downstream of altered splice site)
111	111	MUTAGEN	G->R: Prevents CD8 expression.	lost
111	119	STRAND		lost
115	115	DISULFID		might get lost (downstream of altered splice site)
122	125	STRAND		might get lost (downstream of altered splice site)
129	131	STRAND		might get lost (downstream of altered splice site)
183	203	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
204	235	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

708 / 708

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

236 / 236

position of stopcodon in wt / mu cDNA

1563 / 1563

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

856 / 856

chromosome

strand

-1

last intron/exon boundary

1512

theoretical NMD boundary in CDS

606

length of CDS

708

coding sequence (CDS) position

331

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

1186

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

17997

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

87017523

original gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

original cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

wildtype AA sequence

mutated AA sequence

speed

0.27 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999697441095521 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012083)
known disease mutation: rs12742 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:87017523C>TN/A show variant in all transcripts IGV

HGNC symbol

CD8A

Ensembl transcript ID

ENST00000409511

Genbank transcript ID

NM_001145873

UniProt peptide

P01732

alteration type

single base exchange

alteration region

CDS

DNA changes

c.331G>A
cDNA.1362G>A
g.17997G>A

AA changes

G111S Score: 56 explain score(s)

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

111

frameshift

known variant

Reference ID: rs121918660

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.763	0.999
	2.763	0.968
(flanking)	-0.934	0.053

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	17993	0.75	mu: GAGAACGAGAGCTAC	GAAC\|gaga
Donor gained	17997	0.83	mu: ACGAGAGCTACTATT	GAGA\|gcta
Donor gained	17992	0.74	mu: AGAGAACGAGAGCTA	AGAA\|cgag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

111

mutated

not conserved

111

Ptroglodytes

all identical

ENSPTRG00000012159

152

Mmulatta

all identical

ENSMMUG00000003524

111

Fcatus

all identical

ENSFCAG00000014826

114

Mmusculus

all identical

ENSMUSG00000053977

120

Ggallus

all identical

ENSGALG00000015816

115

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	135	DOMAIN	Ig-like V-type.	lost
22	182	TOPO_DOM	Extracellular (Potential).	lost
107	109	HELIX		might get lost (downstream of altered splice site)
111	111	MUTAGEN	G->R: Prevents CD8 expression.	lost
111	119	STRAND		lost
115	115	DISULFID		might get lost (downstream of altered splice site)
122	125	STRAND		might get lost (downstream of altered splice site)
129	131	STRAND		might get lost (downstream of altered splice site)
183	203	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
204	235	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

708 / 708

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

236 / 236

position of stopcodon in wt / mu cDNA

1739 / 1739

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

1032 / 1032

chromosome

strand

-1

last intron/exon boundary

1688

theoretical NMD boundary in CDS

606

length of CDS

708

coding sequence (CDS) position

331

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

1362

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

17997

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

87017523

original gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

original cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

wildtype AA sequence

mutated AA sequence

speed

0.87 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999697441095521 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012083)
known disease mutation: rs12742 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:87017523C>TN/A show variant in all transcripts IGV

HGNC symbol

CD8A

Ensembl transcript ID

ENST00000409781

Genbank transcript ID

N/A

UniProt peptide

P01732

alteration type

single base exchange

alteration region

CDS

DNA changes

c.331G>A
cDNA.331G>A
g.17997G>A

AA changes

G111S Score: 56 explain score(s)

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

111

frameshift

known variant

Reference ID: rs121918660

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.763	0.999
	2.763	0.968
(flanking)	-0.934	0.053

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	17993	0.75	mu: GAGAACGAGAGCTAC	GAAC\|gaga
Donor gained	17997	0.83	mu: ACGAGAGCTACTATT	GAGA\|gcta
Donor gained	17992	0.74	mu: AGAGAACGAGAGCTA	AGAA\|cgag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

111

mutated

not conserved

111

Ptroglodytes

all identical

ENSPTRG00000012159

152

Mmulatta

all identical

ENSMMUG00000003524

111

Fcatus

all identical

ENSFCAG00000014826

114

Mmusculus

all identical

ENSMUSG00000053977

120

Ggallus

all identical

ENSGALG00000015816

115

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	135	DOMAIN	Ig-like V-type.	lost
22	182	TOPO_DOM	Extracellular (Potential).	lost
107	109	HELIX		might get lost (downstream of altered splice site)
111	111	MUTAGEN	G->R: Prevents CD8 expression.	lost
111	119	STRAND		lost
115	115	DISULFID		might get lost (downstream of altered splice site)
122	125	STRAND		might get lost (downstream of altered splice site)
129	131	STRAND		might get lost (downstream of altered splice site)
183	203	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
204	235	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

597 / 597

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

199 / 199

position of stopcodon in wt / mu cDNA

597 / 597

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

-1

last intron/exon boundary

546

theoretical NMD boundary in CDS

495

length of CDS

597

coding sequence (CDS) position

331

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

331

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

17997

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

87017523

original gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

original cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

wildtype AA sequence

MALPVTALLL PLALLLHAAR PSQFRVSPLD RTWNLGETVE LKCQVLLSNP TSGCSWLFQP
RGAAASPTFL LYLSQNKPKA AEGLDTQRFS GKRLGDTFVL TLSDFRRENE GYYFCSALSN
SIMYFSHFVP VFLPVHTRGL DFACDIYIWA PLAGTCGVLL LSLVITLYCN HRNRRRVCKC
PRPVVKSGDK PSLSARYV*

mutated AA sequence

MALPVTALLL PLALLLHAAR PSQFRVSPLD RTWNLGETVE LKCQVLLSNP TSGCSWLFQP
RGAAASPTFL LYLSQNKPKA AEGLDTQRFS GKRLGDTFVL TLSDFRRENE SYYFCSALSN
SIMYFSHFVP VFLPVHTRGL DFACDIYIWA PLAGTCGVLL LSLVITLYCN HRNRRRVCKC
PRPVVKSGDK PSLSARYV*

speed

0.95 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999697441095521 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012083)
known disease mutation: rs12742 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:87017523C>TN/A show variant in all transcripts IGV

HGNC symbol

CD8A

Ensembl transcript ID

ENST00000456996

Genbank transcript ID

N/A

UniProt peptide

P01732

alteration type

single base exchange

alteration region

CDS

DNA changes

c.331G>A
cDNA.1362G>A
g.17997G>A

AA changes

G111S Score: 56 explain score(s)

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

111

frameshift

known variant

Reference ID: rs121918660

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.763	0.999
	2.763	0.968
(flanking)	-0.934	0.053

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	17993	0.75	mu: GAGAACGAGAGCTAC	GAAC\|gaga
Donor gained	17997	0.83	mu: ACGAGAGCTACTATT	GAGA\|gcta
Donor gained	17992	0.74	mu: AGAGAACGAGAGCTA	AGAA\|cgag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

111

mutated

not conserved

111

Ptroglodytes

all identical

ENSPTRG00000012159

152

Mmulatta

all identical

ENSMMUG00000003524

111

Fcatus

all identical

ENSFCAG00000014826

114

Mmusculus

all identical

ENSMUSG00000053977

120

Ggallus

all identical

ENSGALG00000015816

115

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
22	135	DOMAIN	Ig-like V-type.	lost
22	182	TOPO_DOM	Extracellular (Potential).	lost
107	109	HELIX		might get lost (downstream of altered splice site)
111	111	MUTAGEN	G->R: Prevents CD8 expression.	lost
111	119	STRAND		lost
115	115	DISULFID		might get lost (downstream of altered splice site)
122	125	STRAND		might get lost (downstream of altered splice site)
129	131	STRAND		might get lost (downstream of altered splice site)
183	203	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
204	235	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

597 / 597

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

199 / 199

position of stopcodon in wt / mu cDNA

1628 / 1628

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

1032 / 1032

chromosome

strand

-1

last intron/exon boundary

1577

theoretical NMD boundary in CDS

495

length of CDS

597

coding sequence (CDS) position

331

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

1362

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

17997

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

87017523

original gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered gDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

original cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCC

altered cDNA sequence snippet

ACTTCCGCCGAGAGAACGAGAGCTACTATTTCTGCTCGGCC

wildtype AA sequence

mutated AA sequence

speed

0.32 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

mutation t@sting

Prediction

disease causing

Problems