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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000404752
Querying Taster for transcript #2: ENST00000406226
Querying Taster for transcript #3: ENST00000309835
Querying Taster for transcript #4: ENST00000405008
Querying Taster for transcript #5: ENST00000402114
Querying Taster for transcript #6: ENST00000394754
Querying Taster for transcript #7: ENST00000309827
Querying Taster for transcript #8: ENST00000394751
MT speed 5.29 s - this script 6.019369 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
STON1	polymorphism_automatic	0.000217233091296953	simple_aae				K8N	single base exchange	rs17039250		show file
STON1	polymorphism_automatic	0.000217233091296953	simple_aae				K8N	single base exchange	rs17039250		show file
STON1	polymorphism_automatic	0.000217233091296953	simple_aae				K8N	single base exchange	rs17039250		show file
STON1-GTF2A1L	polymorphism_automatic	0.00173426298671997	simple_aae				K8N	single base exchange	rs17039250		show file
STON1-GTF2A1L	polymorphism_automatic	0.00173426298671997	simple_aae				K8N	single base exchange	rs17039250		show file
STON1-GTF2A1L	polymorphism_automatic	0.00173426298671997	simple_aae				K8N	single base exchange	rs17039250		show file
STON1-GTF2A1L	polymorphism_automatic	0.00173426298671997	simple_aae				K8N	single base exchange	rs17039250		show file
STON1-GTF2A1L	polymorphism_automatic	0.00173426298671997	simple_aae				K8N	single base exchange	rs17039250		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999782766908703 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:48807796A>CN/A show variant in all transcripts IGV

HGNC symbol

STON1

Ensembl transcript ID

ENST00000404752

Genbank transcript ID

NM_006873

UniProt peptide

Q9Y6Q2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.24A>C
cDNA.117A>C
g.51275A>C

AA changes

K8N Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs17039250

database	homozygous (C/C)	heterozygous	allele carriers
1000G	297	1078	1375
ExAC	6546	19675	26221

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.904	1
	0.725	1
(flanking)	4.458	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	51273	wt: 0.3125 / mu: 0.3144 (marginal change - not scored)	wt: CAGGCAAATGGGTCA mu: CAGGCAACTGGGTCA	GGCA\|aatg

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

not conserved

ENSPTRG00000011911

Mmulatta

no alignment

ENSMMUG00000030838

n/a

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000024154

n/a

Ggallus

not conserved

ENSGALG00000009092

Trubripes

not conserved

ENSTRUG00000013959

Drerio

no alignment

ENSDARG00000063670

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022658

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2208 / 2208

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

736 / 736

position of stopcodon in wt / mu cDNA

2301 / 2301

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

94 / 94

chromosome

strand

last intron/exon boundary

2227

theoretical NMD boundary in CDS

2083

length of CDS

2208

coding sequence (CDS) position

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

117

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

51275

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

48807796

original gDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered gDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

original cDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered cDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

wildtype AA sequence

mutated AA sequence

speed

0.70 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: 0.999782766908703 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:48807796A>CN/A show variant in all transcripts IGV

HGNC symbol

STON1

Ensembl transcript ID

ENST00000406226

Genbank transcript ID

NM_001198595

UniProt peptide

Q9Y6Q2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.24A>C
cDNA.219A>C
g.51275A>C

AA changes

K8N Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs17039250

database	homozygous (C/C)	heterozygous	allele carriers
1000G	297	1078	1375
ExAC	6546	19675	26221

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.904	1
	0.725	1
(flanking)	4.458	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	51273	wt: 0.3125 / mu: 0.3144 (marginal change - not scored)	wt: CAGGCAAATGGGTCA mu: CAGGCAACTGGGTCA	GGCA\|aatg

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

not conserved

ENSPTRG00000011911

Mmulatta

no alignment

ENSMMUG00000030838

n/a

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000024154

n/a

Ggallus

not conserved

ENSGALG00000009092

Trubripes

not conserved

ENSTRUG00000013959

Drerio

no alignment

ENSDARG00000063670

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022658

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2208 / 2208

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

736 / 736

position of stopcodon in wt / mu cDNA

2403 / 2403

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

196 / 196

chromosome

strand

last intron/exon boundary

2329

theoretical NMD boundary in CDS

2083

length of CDS

2208

coding sequence (CDS) position

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

219

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

51275

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

48807796

original gDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered gDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

original cDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered cDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

wildtype AA sequence

mutated AA sequence

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999782766908703 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:48807796A>CN/A show variant in all transcripts IGV

HGNC symbol

STON1

Ensembl transcript ID

ENST00000309835

Genbank transcript ID

N/A

UniProt peptide

Q9Y6Q2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.24A>C
cDNA.34A>C
g.51275A>C

AA changes

K8N Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs17039250

database	homozygous (C/C)	heterozygous	allele carriers
1000G	297	1078	1375
ExAC	6546	19675	26221

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.904	1
	0.725	1
(flanking)	4.458	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	51273	wt: 0.3125 / mu: 0.3144 (marginal change - not scored)	wt: CAGGCAAATGGGTCA mu: CAGGCAACTGGGTCA	GGCA\|aatg

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

not conserved

ENSPTRG00000011911

Mmulatta

no alignment

ENSMMUG00000030838

n/a

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000024154

n/a

Ggallus

not conserved

ENSGALG00000009092

Trubripes

not conserved

ENSTRUG00000013959

Drerio

no alignment

ENSDARG00000063670

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022658

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2208 / 2208

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

736 / 736

position of stopcodon in wt / mu cDNA

2218 / 2218

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

2144

theoretical NMD boundary in CDS

2083

length of CDS

2208

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)

51275

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

48807796

original gDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered gDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

original cDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered cDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

wildtype AA sequence

mutated AA sequence

speed

0.59 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99826573701328 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:48807796A>CN/A show variant in all transcripts IGV

HGNC symbol

STON1-GTF2A1L

Ensembl transcript ID

ENST00000405008

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.24A>C
cDNA.135A>C
g.50733A>C

AA changes

K8N Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs17039250

database	homozygous (C/C)	heterozygous	allele carriers
1000G	297	1078	1375
ExAC	6546	19675	26221

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.904	1
	0.725	1
(flanking)	4.458	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	50731	wt: 0.3125 / mu: 0.3144 (marginal change - not scored)	wt: CAGGCAAATGGGTCA mu: CAGGCAACTGGGTCA	GGCA\|aatg

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

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000009092

Trubripes

not conserved

ENSTRUG00000013959

Drerio

no alignment

ENSDARG00000063670

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022658

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3549 / 3549

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

1183 / 1183

position of stopcodon in wt / mu cDNA

3660 / 3660

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

112 / 112

chromosome

strand

last intron/exon boundary

3553

theoretical NMD boundary in CDS

3391

length of CDS

3549

coding sequence (CDS) position

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

135

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

50733

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

48807796

original gDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered gDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

original cDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered cDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

wildtype AA sequence

MCSTNPGKWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF PSGSSSTSST
PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH VLYPIPESSS DSPLAISGGE
SSLLPTRPTC LSHALLPSDH SCTHPTPKVG LPDEVNPQQA ESLGFQSDDL PQFQYFREDC
AFSSPFWKDE GSDSHFTLDP PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE
NQDSLRSLSM HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE HVSYTEKRKY
HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL PAVSKPKKNY EEQEISLEIV
DNFWGKVTKE GKFVESAVIT QIYCLCFVNG NLECFLTLND LELPKRDESY YEKDSEKKGI
DILDYHFHKC VNVQEFEQSR IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY
VELQAFVNMA SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
ACLGSLQELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC LSYKLELGSD
QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK HVQQRACYNI QPKLYRSVIE
DVIEGVRNLF AEEGIEEQVL KDLKQLWETK VLQSKATEDF FRNSIQSPLF TLQLPHSLHQ
TLQSSTASLV IPAGRTLPSF TTAELGTSNS SANFTFPGYP IHVPAGVTLQ TVSGHLYKVN
VPIMVTETSG RAGILQHPIQ QVFQQLGQPS VIQTSVPQLN PWSLQATTEK SQRIETVLQQ
PAILPSGPVD RKHLENATSD ILVSPGNEHK IVPEALLCHQ ESSHYISLPG VVFSPQVSQT
NSNVESVLSG SASMAQNLHD ESLSTSPHGA LHQHVTDIQL HILKNRMYGC DSVKQPRNIE
EPSNIPVSEK DSNSQVDLSI RVTDDDIGEI IQVDGSGDTS SNEEIGSTRD ADENEFLGNI
DGGDLKVPEE EADSISNEDS ATNSSDNEDP QVNIVEEDPL NSGDDVSEQD VPDLFDTDNV
IVCQYDKIHR SKNKWKFYLK DGVMCFGGRD YVFAKAIGDA EW*

mutated AA sequence

MCSTNPGNWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF PSGSSSTSST
PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH VLYPIPESSS DSPLAISGGE
SSLLPTRPTC LSHALLPSDH SCTHPTPKVG LPDEVNPQQA ESLGFQSDDL PQFQYFREDC
AFSSPFWKDE GSDSHFTLDP PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE
NQDSLRSLSM HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE HVSYTEKRKY
HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL PAVSKPKKNY EEQEISLEIV
DNFWGKVTKE GKFVESAVIT QIYCLCFVNG NLECFLTLND LELPKRDESY YEKDSEKKGI
DILDYHFHKC VNVQEFEQSR IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY
VELQAFVNMA SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
ACLGSLQELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC LSYKLELGSD
QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK HVQQRACYNI QPKLYRSVIE
DVIEGVRNLF AEEGIEEQVL KDLKQLWETK VLQSKATEDF FRNSIQSPLF TLQLPHSLHQ
TLQSSTASLV IPAGRTLPSF TTAELGTSNS SANFTFPGYP IHVPAGVTLQ TVSGHLYKVN
VPIMVTETSG RAGILQHPIQ QVFQQLGQPS VIQTSVPQLN PWSLQATTEK SQRIETVLQQ
PAILPSGPVD RKHLENATSD ILVSPGNEHK IVPEALLCHQ ESSHYISLPG VVFSPQVSQT
NSNVESVLSG SASMAQNLHD ESLSTSPHGA LHQHVTDIQL HILKNRMYGC DSVKQPRNIE
EPSNIPVSEK DSNSQVDLSI RVTDDDIGEI IQVDGSGDTS SNEEIGSTRD ADENEFLGNI
DGGDLKVPEE EADSISNEDS ATNSSDNEDP QVNIVEEDPL NSGDDVSEQD VPDLFDTDNV
IVCQYDKIHR SKNKWKFYLK DGVMCFGGRD YVFAKAIGDA EW*

speed

0.54 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99826573701328 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:48807796A>CN/A show variant in all transcripts IGV

HGNC symbol

STON1-GTF2A1L

Ensembl transcript ID

ENST00000309827

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.24A>C
cDNA.73A>C
g.50733A>C

AA changes

K8N Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs17039250

database	homozygous (C/C)	heterozygous	allele carriers
1000G	297	1078	1375
ExAC	6546	19675	26221

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.904	1
	0.725	1
(flanking)	4.458	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	50731	wt: 0.3125 / mu: 0.3144 (marginal change - not scored)	wt: CAGGCAAATGGGTCA mu: CAGGCAACTGGGTCA	GGCA\|aatg

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

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000009092

Trubripes

not conserved

ENSTRUG00000013959

Drerio

no alignment

ENSDARG00000063670

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022658

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3549 / 3549

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

1183 / 1183

position of stopcodon in wt / mu cDNA

3598 / 3598

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

50 / 50

chromosome

strand

last intron/exon boundary

3491

theoretical NMD boundary in CDS

3391

length of CDS

3549

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)

50733

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

48807796

original gDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered gDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

original cDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered cDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

wildtype AA sequence

mutated AA sequence

speed

0.60 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99826573701328 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:48807796A>CN/A show variant in all transcripts IGV

HGNC symbol

STON1-GTF2A1L

Ensembl transcript ID

ENST00000394754

Genbank transcript ID

NM_172311

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.24A>C
cDNA.138A>C
g.50733A>C

AA changes

K8N Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs17039250

database	homozygous (C/C)	heterozygous	allele carriers
1000G	297	1078	1375
ExAC	6546	19675	26221

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.904	1
	0.725	1
(flanking)	4.458	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	50731	wt: 0.3125 / mu: 0.3144 (marginal change - not scored)	wt: CAGGCAAATGGGTCA mu: CAGGCAACTGGGTCA	GGCA\|aatg

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

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000009092

Trubripes

not conserved

ENSTRUG00000013959

Drerio

no alignment

ENSDARG00000063670

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022658

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3549 / 3549

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

1183 / 1183

position of stopcodon in wt / mu cDNA

3663 / 3663

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

115 / 115

chromosome

strand

last intron/exon boundary

3556

theoretical NMD boundary in CDS

3391

length of CDS

3549

coding sequence (CDS) position

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

138

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

50733

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

48807796

original gDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered gDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

original cDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered cDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

wildtype AA sequence

mutated AA sequence

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99826573701328 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:48807796A>CN/A show variant in all transcripts IGV

HGNC symbol

STON1-GTF2A1L

Ensembl transcript ID

ENST00000402114

Genbank transcript ID

NM_001198593

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.24A>C
cDNA.135A>C
g.50733A>C

AA changes

K8N Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs17039250

database	homozygous (C/C)	heterozygous	allele carriers
1000G	297	1078	1375
ExAC	6546	19675	26221

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.904	1
	0.725	1
(flanking)	4.458	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	50731	wt: 0.3125 / mu: 0.3144 (marginal change - not scored)	wt: CAGGCAAATGGGTCA mu: CAGGCAACTGGGTCA	GGCA\|aatg

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

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000009092

Trubripes

not conserved

ENSTRUG00000013959

Drerio

no alignment

ENSDARG00000063670

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022658

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3477 / 3477

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

1159 / 1159

position of stopcodon in wt / mu cDNA

3588 / 3588

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

112 / 112

chromosome

strand

last intron/exon boundary

3553

theoretical NMD boundary in CDS

3391

length of CDS

3477

coding sequence (CDS) position

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

135

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

50733

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

48807796

original gDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered gDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

original cDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered cDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

wildtype AA sequence

mutated AA sequence

speed

0.53 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99826573701328 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:48807796A>CN/A show variant in all transcripts IGV

HGNC symbol

STON1-GTF2A1L

Ensembl transcript ID

ENST00000394751

Genbank transcript ID

NM_001198594

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.24A>C
cDNA.51A>C
g.50733A>C

AA changes

K8N Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs17039250

database	homozygous (C/C)	heterozygous	allele carriers
1000G	297	1078	1375
ExAC	6546	19675	26221

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.904	1
	0.725	1
(flanking)	4.458	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	50731	wt: 0.3125 / mu: 0.3144 (marginal change - not scored)	wt: CAGGCAAATGGGTCA mu: CAGGCAACTGGGTCA	GGCA\|aatg

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

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

not conserved

ENSGALG00000009092

Trubripes

not conserved

ENSTRUG00000013959

Drerio

no alignment

ENSDARG00000063670

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022658

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3408 / 3408

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

1136 / 1136

position of stopcodon in wt / mu cDNA

3435 / 3435

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

28 / 28

chromosome

strand

last intron/exon boundary

3328

theoretical NMD boundary in CDS

3250

length of CDS

3408

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)

50733

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

48807796

original gDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered gDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

original cDNA sequence snippet

TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA

altered cDNA sequence snippet

TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA

wildtype AA sequence

MCSTNPGKWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF PSGSSSTSST
PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH VLYPIPESSS DSPLAISGGE
SSLLPTRPTC LSHALLPSDH SCTHPTPKVG LPDEVNPQQA ESLGFQSDDL PQFQYFREDC
AFSSPFWKDE GSDSHFTLDP PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE
NQDSLRSLSM HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE HVSYTEKRKY
HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL PAVSKPKKNY EEQEISLEIV
DNFWGKVTKE GKFVESAVIT QIYCLCFVNG NLECFLTLND LELPKRDESY YEKDSEKKGI
DILDYHFHKC VNVQEFEQSR IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY
VELQAFVNMA SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
ACLGSLQELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC LSYKLELGSD
QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK HVQQRACYNI QPKLYRSVIE
DVIEGVRNLF AEEGIEEQVL KDLKQLWETK VLQSKATEDF FRNSIQSPLF TLQLPHSLHQ
TLQSSTGHLY KVNVPIMVTE TSGRAGILQH PIQQVFQQLG QPSVIQTSVP QLNPWSLQAT
TEKSQRIETV LQQPAILPSG PVDRKHLENA TSDILVSPGN EHKIVPEALL CHQESSHYIS
LPGVVFSPQV SQTNSNVESV LSGSASMAQN LHDESLSTSP HGALHQHVTD IQLHILKNRM
YGCDSVKQPR NIEEPSNIPV SEKDSNSQVD LSIRVTDDDI GEIIQVDGSG DTSSNEEIGS
TRDADENEFL GNIDGGDLKV PEEEADSISN EDSATNSSDN EDPQVNIVEE DPLNSGDDVS
EQDVPDLFDT DNVIVCQYDK IHRSKNKWKF YLKDGVMCFG GRDYVFAKAI GDAEW*

mutated AA sequence

MCSTNPGNWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF PSGSSSTSST
PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH VLYPIPESSS DSPLAISGGE
SSLLPTRPTC LSHALLPSDH SCTHPTPKVG LPDEVNPQQA ESLGFQSDDL PQFQYFREDC
AFSSPFWKDE GSDSHFTLDP PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE
NQDSLRSLSM HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE HVSYTEKRKY
HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL PAVSKPKKNY EEQEISLEIV
DNFWGKVTKE GKFVESAVIT QIYCLCFVNG NLECFLTLND LELPKRDESY YEKDSEKKGI
DILDYHFHKC VNVQEFEQSR IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY
VELQAFVNMA SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
ACLGSLQELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC LSYKLELGSD
QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK HVQQRACYNI QPKLYRSVIE
DVIEGVRNLF AEEGIEEQVL KDLKQLWETK VLQSKATEDF FRNSIQSPLF TLQLPHSLHQ
TLQSSTGHLY KVNVPIMVTE TSGRAGILQH PIQQVFQQLG QPSVIQTSVP QLNPWSLQAT
TEKSQRIETV LQQPAILPSG PVDRKHLENA TSDILVSPGN EHKIVPEALL CHQESSHYIS
LPGVVFSPQV SQTNSNVESV LSGSASMAQN LHDESLSTSP HGALHQHVTD IQLHILKNRM
YGCDSVKQPR NIEEPSNIPV SEKDSNSQVD LSIRVTDDDI GEIIQVDGSG DTSSNEEIGS
TRDADENEFL GNIDGGDLKV PEEEADSISN EDSATNSSDN EDPQVNIVEE DPLNSGDDVS
EQDVPDLFDT DNVIVCQYDK IHRSKNKWKF YLKDGVMCFG GRDYVFAKAI GDAEW*

speed

0.60 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

mutation t@sting

Prediction

polymorphism

Problems