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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000554962
Querying Taster for transcript #2: ENST00000511166
Querying Taster for transcript #3: ENST00000491049
Querying Taster for transcript #4: ENST00000503173
Querying Taster for transcript #5: ENST00000239860
Querying Taster for transcript #6: ENST00000379864
Querying Taster for transcript #7: ENST00000510088
Querying Taster for transcript #8: ENST00000379862
Querying Taster for transcript #9: ENST00000239859
MT speed 0 s - this script 7.808213 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SOHLH2	polymorphism_automatic	8.82127772050545e-07	simple_aae		affected		K20R	single base exchange	rs9546897		show file
CCDC169-SOHLH2	polymorphism_automatic	8.82127772050545e-07	simple_aae		affected		K20R	single base exchange	rs9546897		show file
CCDC169	polymorphism_automatic	2.82108266502767e-06	simple_aae		affected		K120R	single base exchange	rs9546897		show file
CCDC169	polymorphism_automatic	2.82108266502767e-06	simple_aae		affected		K120R	single base exchange	rs9546897		show file
CCDC169	polymorphism_automatic	8.50402515295556e-06	simple_aae		affected		K18R	single base exchange	rs9546897		show file
CCDC169	polymorphism_automatic	8.50402515295556e-06	simple_aae		affected		K20R	single base exchange	rs9546897		show file
CCDC169	polymorphism_automatic	8.50402515295556e-06	simple_aae		affected		K18R	single base exchange	rs9546897		show file
CCDC169	polymorphism_automatic	8.50402515295556e-06	simple_aae		affected		K18R	single base exchange	rs9546897		show file
CCDC169	polymorphism_automatic	8.50402515295556e-06	simple_aae		affected		K18R	single base exchange	rs9546897		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999117872228 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

SOHLH2

Ensembl transcript ID

ENST00000554962

Genbank transcript ID

N/A

UniProt peptide

Q9NX45

alteration type

single base exchange

alteration region

CDS

DNA changes

c.59A>G
cDNA.361A>G
g.43743A>G

AA changes

K20R Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43740	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43737	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000005779

Mmulatta

no alignment

ENSMMUG00000001172

n/a

Fcatus

no alignment

ENSFCAG00000004161

n/a

Mmusculus

no alignment

ENSMUSG00000027794

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
201	252	DOMAIN	bHLH.	might get lost (downstream of altered splice site)
211	211	CONFLICT	K -> N (in Ref. 1; BAA91175 and 5; AAW78547).	might get lost (downstream of altered splice site)
312	312	CONFLICT	T -> A (in Ref. 1; BAA91175 and 5; AAW78547).	might get lost (downstream of altered splice site)
403	403	CONFLICT	H -> Y (in Ref. 1; BAA91175 and 5; AAW78547).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1509 / 1509

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

503 / 503

position of stopcodon in wt / mu cDNA

1811 / 1811

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

303 / 303

chromosome

strand

-1

last intron/exon boundary

1791

theoretical NMD boundary in CDS

1438

length of CDS

1509

coding sequence (CDS) position

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

361

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

43743

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

METLQESLNT LLKQLEEEKK TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL
HQVSKRQQVD QLPRMQENLV KTLLLKEELD PLKAKIDILL VGDVTVGYLA DTVQKLFANI
AEVTITISDT KEAAALLDDC IFNMVLLKVP SSLSAEELEA IKLIRFGKKK NTHSLFVFII
PENFKGCISG HGMDIALTEP LTMEKMSNVV KYWTTCPSNT VKTENATGPE ELGLPLQRSY
SEHLGYFPTD LFACSESLRN GNGLELNASL SEFEKNKKIS LLHSSKEKLR RERIKYCCEQ
LRTLLPYVKG RKNDAASVLE ATVDYVKYIR EKISPAVMAQ ITEALQSNMR FCKKQQTPIE
LSLPGTVMAQ RENSVMSTYS PERGLQFLTN TCWNGCSTPD AESSLDEAVR VPSSSASENA
IGDPYKTHIS SAALSLNSLH TVRYYSKVTP SYDATAVTNQ NISIHLPSAM PPVSKLLPRH
CTSGLGQTCT THPNCLQQFW AY*

mutated AA sequence

METLQESLNT LLKQLEEEKR TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL
HQVSKRQQVD QLPRMQENLV KTLLLKEELD PLKAKIDILL VGDVTVGYLA DTVQKLFANI
AEVTITISDT KEAAALLDDC IFNMVLLKVP SSLSAEELEA IKLIRFGKKK NTHSLFVFII
PENFKGCISG HGMDIALTEP LTMEKMSNVV KYWTTCPSNT VKTENATGPE ELGLPLQRSY
SEHLGYFPTD LFACSESLRN GNGLELNASL SEFEKNKKIS LLHSSKEKLR RERIKYCCEQ
LRTLLPYVKG RKNDAASVLE ATVDYVKYIR EKISPAVMAQ ITEALQSNMR FCKKQQTPIE
LSLPGTVMAQ RENSVMSTYS PERGLQFLTN TCWNGCSTPD AESSLDEAVR VPSSSASENA
IGDPYKTHIS SAALSLNSLH TVRYYSKVTP SYDATAVTNQ NISIHLPSAM PPVSKLLPRH
CTSGLGQTCT THPNCLQQFW AY*

speed

0.65 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: 0.999999117872228 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

CCDC169-SOHLH2

Ensembl transcript ID

ENST00000511166

Genbank transcript ID

N/A

UniProt peptide

Q9NX45

alteration type

single base exchange

alteration region

CDS

DNA changes

c.59A>G
cDNA.361A>G
g.43743A>G

AA changes

K20R Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43740	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43737	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000005779

Mmulatta

no alignment

ENSMMUG00000001172

n/a

Fcatus

no alignment

ENSFCAG00000004161

n/a

Mmusculus

no alignment

ENSMUSG00000027794

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
201	252	DOMAIN	bHLH.	might get lost (downstream of altered splice site)
211	211	CONFLICT	K -> N (in Ref. 1; BAA91175 and 5; AAW78547).	might get lost (downstream of altered splice site)
312	312	CONFLICT	T -> A (in Ref. 1; BAA91175 and 5; AAW78547).	might get lost (downstream of altered splice site)
403	403	CONFLICT	H -> Y (in Ref. 1; BAA91175 and 5; AAW78547).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1509 / 1509

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

503 / 503

position of stopcodon in wt / mu cDNA

1811 / 1811

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

303 / 303

chromosome

strand

-1

last intron/exon boundary

1791

theoretical NMD boundary in CDS

1438

length of CDS

1509

coding sequence (CDS) position

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

361

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

43743

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

mutated AA sequence

speed

0.66 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997178917335 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

CCDC169

Ensembl transcript ID

ENST00000503173

Genbank transcript ID

NM_001198908

UniProt peptide

A6NNP5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.359A>G
cDNA.389A>G
g.43741A>G

AA changes

K120R Score: 26 explain score(s)

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

120

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43738	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43735	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

120

mutated

all conserved

120

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000001175

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000048655

120

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089570

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000030268

125

protein features

start (aa)	end (aa)	feature	details
29	154	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

726 / 726

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

242 / 242

position of stopcodon in wt / mu cDNA

756 / 756

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

31 / 31

chromosome

strand

-1

last intron/exon boundary

576

theoretical NMD boundary in CDS

495

length of CDS

726

coding sequence (CDS) position

359

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

389

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

43741

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

MKEERNYNFD GVSTNRLKQQ LLEEVRKKDA VQLSIFELRH KITELEAKLN TDNEGSEWKT
RYETQLELND ELEKQIVYLK EKVEKIHGNS SDRLSSIRVY ERMPVESLNT LLKQLEEEKK
TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL HQVSKRQQVD QLPRMQENLV
KTLLLKEELD PLKVSCLETL GFSAAGVAGP ENRTCLGQKA LWPACLHGSS TLAVCQTHLK
S*

mutated AA sequence

MKEERNYNFD GVSTNRLKQQ LLEEVRKKDA VQLSIFELRH KITELEAKLN TDNEGSEWKT
RYETQLELND ELEKQIVYLK EKVEKIHGNS SDRLSSIRVY ERMPVESLNT LLKQLEEEKR
TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL HQVSKRQQVD QLPRMQENLV
KTLLLKEELD PLKVSCLETL GFSAAGVAGP ENRTCLGQKA LWPACLHGSS TLAVCQTHLK
S*

speed

1.22 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997178917335 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

CCDC169

Ensembl transcript ID

ENST00000239859

Genbank transcript ID

NM_001144981

UniProt peptide

A6NNP5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.359A>G
cDNA.391A>G
g.43741A>G

AA changes

K120R Score: 26 explain score(s)

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

120

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43738	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43735	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

120

mutated

all conserved

120

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000001175

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000048655

120

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089570

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000030268

125

protein features

start (aa)	end (aa)	feature	details
29	154	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

645 / 645

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

215 / 215

position of stopcodon in wt / mu cDNA

677 / 677

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

33 / 33

chromosome

strand

-1

last intron/exon boundary

578

theoretical NMD boundary in CDS

495

length of CDS

645

coding sequence (CDS) position

359

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

391

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

43741

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

mutated AA sequence

speed

1.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991495974847 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

CCDC169

Ensembl transcript ID

ENST00000491049

Genbank transcript ID

N/A

UniProt peptide

A6NNP5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53A>G
cDNA.305A>G
g.43741A>G

AA changes

K18R Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43738	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43735	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000001175

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000048655

120

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089570

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000030268

125

protein features

start (aa)	end (aa)	feature	details
29	154	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

420 / 420

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

140 / 140

position of stopcodon in wt / mu cDNA

672 / 672

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

253 / 253

chromosome

strand

-1

last intron/exon boundary

492

theoretical NMD boundary in CDS

189

length of CDS

420

coding sequence (CDS) position

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

305

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

43741

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

MPVESLNTLL KQLEEEKKTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT LLLKEELDPL KVSCLETLGF SAAGVAGPEN RTCLGQKALW
PACLHGSSTL AVCQTHLKS*

mutated AA sequence

MPVESLNTLL KQLEEEKRTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT LLLKEELDPL KVSCLETLGF SAAGVAGPEN RTCLGQKALW
PACLHGSSTL AVCQTHLKS*

speed

0.68 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991495974847 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

CCDC169

Ensembl transcript ID

ENST00000239860

Genbank transcript ID

NM_001144984

UniProt peptide

A6NNP5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.59A>G
cDNA.268A>G
g.43741A>G

AA changes

K20R Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43738	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43735	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000001175

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000048655

120

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089570

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000030268

125

protein features

start (aa)	end (aa)	feature	details
29	154	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

426 / 426

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

142 / 142

position of stopcodon in wt / mu cDNA

635 / 635

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

210 / 210

chromosome

strand

-1

last intron/exon boundary

455

theoretical NMD boundary in CDS

195

length of CDS

426

coding sequence (CDS) position

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

268

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

43741

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

METLQESLNT LLKQLEEEKK TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL
HQVSKRQQVD QLPRMQENLV KTLLLKEELD PLKVSCLETL GFSAAGVAGP ENRTCLGQKA
LWPACLHGSS TLAVCQTHLK S*

mutated AA sequence

METLQESLNT LLKQLEEEKR TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL
HQVSKRQQVD QLPRMQENLV KTLLLKEELD PLKVSCLETL GFSAAGVAGP ENRTCLGQKA
LWPACLHGSS TLAVCQTHLK S*

speed

1.26 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991495974847 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

CCDC169

Ensembl transcript ID

ENST00000510088

Genbank transcript ID

NM_001144985

UniProt peptide

A6NNP5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53A>G
cDNA.384A>G
g.43741A>G

AA changes

K18R Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43738	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43735	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000001175

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000048655

120

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089570

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000030268

125

protein features

start (aa)	end (aa)	feature	details
29	154	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

339 / 339

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

113 / 113

position of stopcodon in wt / mu cDNA

670 / 670

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

332 / 332

chromosome

strand

-1

last intron/exon boundary

571

theoretical NMD boundary in CDS

189

length of CDS

339

coding sequence (CDS) position

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

384

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

43741

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

MPVESLNTLL KQLEEEKKTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT GRYNPAKQKT VSAKRGPVKK ITRPNHLPEL HP*

mutated AA sequence

MPVESLNTLL KQLEEEKRTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT GRYNPAKQKT VSAKRGPVKK ITRPNHLPEL HP*

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991495974847 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

CCDC169

Ensembl transcript ID

ENST00000379864

Genbank transcript ID

NM_001144982

UniProt peptide

A6NNP5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53A>G
cDNA.384A>G
g.43741A>G

AA changes

K18R Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43738	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43735	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000001175

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000048655

120

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089570

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000030268

125

protein features

start (aa)	end (aa)	feature	details
29	154	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

420 / 420

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

140 / 140

position of stopcodon in wt / mu cDNA

751 / 751

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

332 / 332

chromosome

strand

-1

last intron/exon boundary

571

theoretical NMD boundary in CDS

189

length of CDS

420

coding sequence (CDS) position

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

384

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

43741

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

MPVESLNTLL KQLEEEKKTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT LLLKEELDPL KVSCLETLGF SAAGVAGPEN RTCLGQKALW
PACLHGSSTL AVCQTHLKS*

mutated AA sequence

MPVESLNTLL KQLEEEKRTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT LLLKEELDPL KVSCLETLGF SAAGVAGPEN RTCLGQKALW
PACLHGSSTL AVCQTHLKS*

speed

1.30 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991495974847 (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)

chr13:36828237T>CN/A show variant in all transcripts IGV

HGNC symbol

CCDC169

Ensembl transcript ID

ENST00000379862

Genbank transcript ID

N/A

UniProt peptide

A6NNP5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.53A>G
cDNA.307A>G
g.43741A>G

AA changes

K18R Score: 26 explain score(s)

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

frameshift

known variant

Reference ID: rs9546897

database	homozygous (C/C)	heterozygous	allele carriers
1000G	378	1126	1504
ExAC	2193	5304	7497

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.048	0.998
	0.332	0.995
(flanking)	0.506	0.995

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	43738	wt: 0.9864 / mu: 0.9890 (marginal change - not scored)	wt: AGAAAAGAAGACTCT mu: AGAAAAGAGGACTCT	AAAA\|gaag
Donor gained	43735	0.86	mu: AGAAGAAAAGAGGAC	AAGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000001175

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000048655

120

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089570

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000030268

125

protein features

start (aa)	end (aa)	feature	details
29	154	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

339 / 339

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

113 / 113

position of stopcodon in wt / mu cDNA

593 / 593

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

255 / 255

chromosome

strand

-1

last intron/exon boundary

494

theoretical NMD boundary in CDS

189

length of CDS

339

coding sequence (CDS) position

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

307

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

43741

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

36828237

original gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered gDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

original cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA

altered cDNA sequence snippet

ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA

wildtype AA sequence

MPVESLNTLL KQLEEEKKTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT GRYNPAKQKT VSAKRGPVKK ITRPNHLPEL HP*

mutated AA sequence

MPVESLNTLL KQLEEEKRTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT GRYNPAKQKT VSAKRGPVKK ITRPNHLPEL HP*

speed

0.70 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

mutation t@sting

Prediction

polymorphism

Problems