MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 7 transcript(s)...
Querying Taster for transcript #1: ENST00000264982
Querying Taster for transcript #2: ENST00000489254
Querying Taster for transcript #3: ENST00000484888
Querying Taster for transcript #4: ENST00000474781
Querying Taster for transcript #5: ENST00000481834
Querying Taster for transcript #6: ENST00000464035
Querying Taster for transcript #7: ENST00000542237
MT speed 0 s - this script 6.976793 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CEP70	polymorphism_automatic	9.31553600924673e-09	simple_aae		affected		S135N	single base exchange	rs1673607		show file
CEP70	polymorphism_automatic	9.31553600924673e-09	simple_aae		affected		S135N	single base exchange	rs1673607		show file
CEP70	polymorphism_automatic	9.31553600924673e-09	simple_aae		affected		S135N	single base exchange	rs1673607		show file
CEP70	polymorphism_automatic	9.31553600924673e-09	simple_aae		affected		S117N	single base exchange	rs1673607		show file
CEP70	polymorphism_automatic	9.31553600924673e-09	simple_aae		affected		S115N	single base exchange	rs1673607		show file
CEP70	polymorphism_automatic	9.31553600924673e-09	simple_aae		affected		S135N	single base exchange	rs1673607		show file
CEP70	polymorphism_automatic	0.942297406174932	without_aae		affected			single base exchange	rs1673607		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999990684464 (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)

chr3:138289221C>TN/A show variant in all transcripts IGV

HGNC symbol

CEP70

Ensembl transcript ID

ENST00000264982

Genbank transcript ID

NM_024491

UniProt peptide

Q8NHQ1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.404G>A
cDNA.671G>A
g.24160G>A

AA changes

S135N Score: 46 explain score(s)

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

135

frameshift

known variant

Reference ID: rs1673607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	24594	-16421	8173

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.259	0.765
	-0.234	0.679
(flanking)	0.609	0.69

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	24155	0.54	mu: GAATCACTAAATAGG	ATCA\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

135

mutated

all conserved

135

Ptroglodytes

all conserved

ENSPTRG00000015448

135

Mmulatta

all conserved

ENSMMUG00000007760

135

Fcatus

not conserved

ENSFCAG00000013006

226

Mmusculus

all conserved

ENSMUSG00000056267

156

Ggallus

all conserved

ENSGALG00000012087

127

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076965

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
75	179	COILED	Potential.	lost
254	326	COILED	Potential.	might get lost (downstream of altered splice site)
293	293	CONFLICT	Q -> L (in Ref. 2; BAH12924).	might get lost (downstream of altered splice site)
371	371	CONFLICT	Q -> R (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
385	385	CONFLICT	Q -> R (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
393	393	CONFLICT	V -> A (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
471	471	CONFLICT	S -> P (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
478	478	CONFLICT	D -> G (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
483	516	REPEAT	TPR.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1794 / 1794

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

598 / 598

position of stopcodon in wt / mu cDNA

2061 / 2061

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

268 / 268

chromosome

strand

-1

last intron/exon boundary

2000

theoretical NMD boundary in CDS

1682

length of CDS

1794

coding sequence (CDS) position

404

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

671

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

24160

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

138289221

original gDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered gDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

original cDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered cDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

wildtype AA sequence

MFPVAPKPQD SSQPSDRLMT EKQQEEAEWE SINVLLMMHG LKPLSLVKRT DLKDLIIFDK
QSSQRMRQNL KLLVEETSCQ QNMIQELIET NQQLRNELQL EQSRAANQEQ RANDLEQIME
SVKSKIGELE DESLSRACHQ QNKIKDLQKE QKTLQVKCQH YKKKRTEQEE TIASLQMEVC
RLKKEEEDRI VTQNRVFAYL CKRVPHTVLD RQLLCLIDYY ESKIRKIHTQ RQYKEDESQS
EEENDYRNLD ASPTYKGLLM SLQNQLKESK SKIDALSSEK LNLQKDLETR PTQHELRLYK
QQVKKLEKAL KKNVKLQELI NHKKAEDTEK KDEPSKYNQQ QALIDQRYFQ VLCSINSIIH
NPRAPVIIYK QTKGGVQNFN KDLVQDCGFE HLVPVIEMWA DQLTSLKDLY KSLKTLSAEL
VPWLNLKKQD ENEGIKVEDL LFIVDTMLEE VENKEKDSNM PHFQTLQAIV SHFQKLFDVP
SLNGVYPRMN EVYTRLGEMN NAVRNLQELL ELDSSSSLCV LVSTVGKLCR LINEDVNEQV
MQVLGPEDLQ SIIYKLEEHE EFFPAFQAFT NDLLEILEID DLDAIVPAVK KLKVLSY*

mutated AA sequence

MFPVAPKPQD SSQPSDRLMT EKQQEEAEWE SINVLLMMHG LKPLSLVKRT DLKDLIIFDK
QSSQRMRQNL KLLVEETSCQ QNMIQELIET NQQLRNELQL EQSRAANQEQ RANDLEQIME
SVKSKIGELE DESLNRACHQ QNKIKDLQKE QKTLQVKCQH YKKKRTEQEE TIASLQMEVC
RLKKEEEDRI VTQNRVFAYL CKRVPHTVLD RQLLCLIDYY ESKIRKIHTQ RQYKEDESQS
EEENDYRNLD ASPTYKGLLM SLQNQLKESK SKIDALSSEK LNLQKDLETR PTQHELRLYK
QQVKKLEKAL KKNVKLQELI NHKKAEDTEK KDEPSKYNQQ QALIDQRYFQ VLCSINSIIH
NPRAPVIIYK QTKGGVQNFN KDLVQDCGFE HLVPVIEMWA DQLTSLKDLY KSLKTLSAEL
VPWLNLKKQD ENEGIKVEDL LFIVDTMLEE VENKEKDSNM PHFQTLQAIV SHFQKLFDVP
SLNGVYPRMN EVYTRLGEMN NAVRNLQELL ELDSSSSLCV LVSTVGKLCR LINEDVNEQV
MQVLGPEDLQ SIIYKLEEHE EFFPAFQAFT NDLLEILEID DLDAIVPAVK KLKVLSY*

speed

1.07 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: 0.999999990684464 (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)

chr3:138289221C>TN/A show variant in all transcripts IGV

HGNC symbol

CEP70

Ensembl transcript ID

ENST00000484888

Genbank transcript ID

N/A

UniProt peptide

Q8NHQ1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.404G>A
cDNA.591G>A
g.24160G>A

AA changes

S135N Score: 46 explain score(s)

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

135

frameshift

known variant

Reference ID: rs1673607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	24594	-16421	8173

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.259	0.765
	-0.234	0.679
(flanking)	0.609	0.69

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	24155	0.54	mu: GAATCACTAAATAGG	ATCA\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

135

mutated

all conserved

135

Ptroglodytes

all conserved

ENSPTRG00000015448

135

Mmulatta

all conserved

ENSMMUG00000007760

135

Fcatus

not conserved

ENSFCAG00000013006

226

Mmusculus

all conserved

ENSMUSG00000056267

156

Ggallus

all conserved

ENSGALG00000012087

127

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076965

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
75	179	COILED	Potential.	lost
254	326	COILED	Potential.	might get lost (downstream of altered splice site)
293	293	CONFLICT	Q -> L (in Ref. 2; BAH12924).	might get lost (downstream of altered splice site)
371	371	CONFLICT	Q -> R (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
385	385	CONFLICT	Q -> R (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
393	393	CONFLICT	V -> A (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
471	471	CONFLICT	S -> P (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
478	478	CONFLICT	D -> G (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
483	516	REPEAT	TPR.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1794 / 1794

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

598 / 598

position of stopcodon in wt / mu cDNA

1981 / 1981

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

188 / 188

chromosome

strand

-1

last intron/exon boundary

1920

theoretical NMD boundary in CDS

1682

length of CDS

1794

coding sequence (CDS) position

404

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

591

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

24160

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

138289221

original gDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered gDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

original cDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered cDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

wildtype AA sequence

mutated AA sequence

speed

1.22 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999990684464 (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)

chr3:138289221C>TN/A show variant in all transcripts IGV

HGNC symbol

CEP70

Ensembl transcript ID

ENST00000481834

Genbank transcript ID

N/A

UniProt peptide

Q8NHQ1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.404G>A
cDNA.563G>A
g.24160G>A

AA changes

S135N Score: 46 explain score(s)

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

135

frameshift

known variant

Reference ID: rs1673607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	24594	-16421	8173

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.259	0.765
	-0.234	0.679
(flanking)	0.609	0.69

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	24155	0.54	mu: GAATCACTAAATAGG	ATCA\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

135

mutated

all conserved

135

Ptroglodytes

all conserved

ENSPTRG00000015448

135

Mmulatta

all conserved

ENSMMUG00000007760

135

Fcatus

not conserved

ENSFCAG00000013006

226

Mmusculus

all conserved

ENSMUSG00000056267

156

Ggallus

all conserved

ENSGALG00000012087

127

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076965

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
75	179	COILED	Potential.	lost
254	326	COILED	Potential.	might get lost (downstream of altered splice site)
293	293	CONFLICT	Q -> L (in Ref. 2; BAH12924).	might get lost (downstream of altered splice site)
371	371	CONFLICT	Q -> R (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
385	385	CONFLICT	Q -> R (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
393	393	CONFLICT	V -> A (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
471	471	CONFLICT	S -> P (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
478	478	CONFLICT	D -> G (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
483	516	REPEAT	TPR.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1665 / 1665

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

555 / 555

position of stopcodon in wt / mu cDNA

1824 / 1824

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

160 / 160

chromosome

strand

-1

last intron/exon boundary

1697

theoretical NMD boundary in CDS

1487

length of CDS

1665

coding sequence (CDS) position

404

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

563

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

24160

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

138289221

original gDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered gDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

original cDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered cDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

wildtype AA sequence

mutated AA sequence

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999990684464 (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)

chr3:138289221C>TN/A show variant in all transcripts IGV

HGNC symbol

CEP70

Ensembl transcript ID

ENST00000474781

Genbank transcript ID

N/A

UniProt peptide

Q8NHQ1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.350G>A
cDNA.636G>A
g.24160G>A

AA changes

S117N Score: 46 explain score(s)

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

117

frameshift

known variant

Reference ID: rs1673607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	24594	-16421	8173

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.259	0.765
	-0.234	0.679
(flanking)	0.609	0.69

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	24155	0.54	mu: GAATCACTAAATAGG	ATCA\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

117

mutated

all conserved

117

Ptroglodytes

all conserved

ENSPTRG00000015448

135

Mmulatta

all conserved

ENSMMUG00000007760

135

Fcatus

not conserved

ENSFCAG00000013006

226

Mmusculus

all conserved

ENSMUSG00000056267

156

Ggallus

all conserved

ENSGALG00000012087

127

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076965

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
75	179	COILED	Potential.	lost
254	326	COILED	Potential.	might get lost (downstream of altered splice site)
293	293	CONFLICT	Q -> L (in Ref. 2; BAH12924).	might get lost (downstream of altered splice site)
371	371	CONFLICT	Q -> R (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
385	385	CONFLICT	Q -> R (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
393	393	CONFLICT	V -> A (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
471	471	CONFLICT	S -> P (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
478	478	CONFLICT	D -> G (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
483	516	REPEAT	TPR.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1740 / 1740

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

580 / 580

position of stopcodon in wt / mu cDNA

2026 / 2026

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

287 / 287

chromosome

strand

-1

last intron/exon boundary

1965

theoretical NMD boundary in CDS

1628

length of CDS

1740

coding sequence (CDS) position

350

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

636

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

24160

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

138289221

original gDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered gDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

original cDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered cDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

wildtype AA sequence

MTEKQQEEAE WESINVLLMM HGLKPLSLVK RTDLKDLIIF DKQSSQRMRQ NLKLLVEETS
CQQNMIQELI ETNQQLRNEL QLEQSRAANQ EQRANDLEQI MESVKSKIGE LEDESLSRAC
HQQNKIKDLQ KEQKTLQVKC QHYKKKRTEQ EETIASLQME VCRLKKEEED RIVTQNRVFA
YLCKRVPHTV LDRQLLCLID YYESKIRKIH TQRQYKEDES QSEEENDYRN LDASPTYKGL
LMSLQNQLKE SKSKIDALSS EKLNLQKDLE TRPTQHELRL YKQQVKKLEK ALKKNVKLQE
LINHKKAEDT EKKDEPSKYN QQQALIDQRY FQVLCSINSI IHNPRAPVII YKQTKGGVQN
FNKDLVQDCG FEHLVPVIEM WADQLTSLKD LYKSLKTLSA ELVPWLNLKK QDENEGIKVE
DLLFIVDTML EEVENKEKDS NMPHFQTLQA IVSHFQKLFD VPSLNGVYPR MNEVYTRLGE
MNNAVRNLQE LLELDSSSSL CVLVSTVGKL CRLINEDVNE QVMQVLGPED LQSIIYKLEE
HEEFFPAFQA FTNDLLEILE IDDLDAIVPA VKKLKVLSY*

mutated AA sequence

MTEKQQEEAE WESINVLLMM HGLKPLSLVK RTDLKDLIIF DKQSSQRMRQ NLKLLVEETS
CQQNMIQELI ETNQQLRNEL QLEQSRAANQ EQRANDLEQI MESVKSKIGE LEDESLNRAC
HQQNKIKDLQ KEQKTLQVKC QHYKKKRTEQ EETIASLQME VCRLKKEEED RIVTQNRVFA
YLCKRVPHTV LDRQLLCLID YYESKIRKIH TQRQYKEDES QSEEENDYRN LDASPTYKGL
LMSLQNQLKE SKSKIDALSS EKLNLQKDLE TRPTQHELRL YKQQVKKLEK ALKKNVKLQE
LINHKKAEDT EKKDEPSKYN QQQALIDQRY FQVLCSINSI IHNPRAPVII YKQTKGGVQN
FNKDLVQDCG FEHLVPVIEM WADQLTSLKD LYKSLKTLSA ELVPWLNLKK QDENEGIKVE
DLLFIVDTML EEVENKEKDS NMPHFQTLQA IVSHFQKLFD VPSLNGVYPR MNEVYTRLGE
MNNAVRNLQE LLELDSSSSL CVLVSTVGKL CRLINEDVNE QVMQVLGPED LQSIIYKLEE
HEEFFPAFQA FTNDLLEILE IDDLDAIVPA VKKLKVLSY*

speed

1.30 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999990684464 (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)

chr3:138289221C>TN/A show variant in all transcripts IGV

HGNC symbol

CEP70

Ensembl transcript ID

ENST00000542237

Genbank transcript ID

N/A

UniProt peptide

Q8NHQ1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.344G>A
cDNA.489G>A
g.24160G>A

AA changes

S115N Score: 46 explain score(s)

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

115

frameshift

known variant

Reference ID: rs1673607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	24594	-16421	8173

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.259	0.765
	-0.234	0.679
(flanking)	0.609	0.69

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	24155	0.54	mu: GAATCACTAAATAGG	ATCA\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

115

mutated

all conserved

115

Ptroglodytes

all conserved

ENSPTRG00000015448

135

Mmulatta

all conserved

ENSMMUG00000007760

135

Fcatus

not conserved

ENSFCAG00000013006

226

Mmusculus

all conserved

ENSMUSG00000056267

156

Ggallus

all conserved

ENSGALG00000012087

127

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076965

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
75	179	COILED	Potential.	lost
254	326	COILED	Potential.	might get lost (downstream of altered splice site)
293	293	CONFLICT	Q -> L (in Ref. 2; BAH12924).	might get lost (downstream of altered splice site)
371	371	CONFLICT	Q -> R (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
385	385	CONFLICT	Q -> R (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
393	393	CONFLICT	V -> A (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
471	471	CONFLICT	S -> P (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
478	478	CONFLICT	D -> G (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
483	516	REPEAT	TPR.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1734 / 1734

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

578 / 578

position of stopcodon in wt / mu cDNA

1879 / 1879

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

146 / 146

chromosome

strand

-1

last intron/exon boundary

1818

theoretical NMD boundary in CDS

1622

length of CDS

1734

coding sequence (CDS) position

344

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

489

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

24160

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

138289221

original gDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered gDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

original cDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered cDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

wildtype AA sequence

MTEQEEAEWE SINVLLMMHG LKPLSLVKRT DLKDLIIFDK QSSQRMRQNL KLLVEETSCQ
QNMIQELIET NQQLRNELQL EQSRAANQEQ RANDLEQIME SVKSKIGELE DESLSRACHQ
QNKIKDLQKE QKTLQVKCQH YKKKRTEQEE TIASLQMEVC RLKKEEEDRI VTQNRVFAYL
CKRVPHTVLD RQLLCLIDYY ESKIRKIHTQ RQYKEDESQS EEENDYRNLD ASPTYKGLLM
SLQNQLKESK SKIDALSSEK LNLQKDLETR PTQHELRLYK QQVKKLEKAL KKNVKLQELI
NHKKAEDTEK KDEPSKYNQQ QALIDQRYFQ VLCSINSIIH NPRAPVIIYK QTKGGVQNFN
KDLVQDCGFE HLVPVIEMWA DQLTSLKDLY KSLKTLSAEL VPWLNLKKQD ENEGIKVEDL
LFIVDTMLEE VENKEKDSNM PHFQTLQAIV SHFQKLFDVP SLNGVYPRMN EVYTRLGEMN
NAVRNLQELL ELDSSSSLCV LVSTVGKLCR LINEDVNEQV MQVLGPEDLQ SIIYKLEEHE
EFFPAFQAFT NDLLEILEID DLDAIVPAVK KLKVLSY*

mutated AA sequence

MTEQEEAEWE SINVLLMMHG LKPLSLVKRT DLKDLIIFDK QSSQRMRQNL KLLVEETSCQ
QNMIQELIET NQQLRNELQL EQSRAANQEQ RANDLEQIME SVKSKIGELE DESLNRACHQ
QNKIKDLQKE QKTLQVKCQH YKKKRTEQEE TIASLQMEVC RLKKEEEDRI VTQNRVFAYL
CKRVPHTVLD RQLLCLIDYY ESKIRKIHTQ RQYKEDESQS EEENDYRNLD ASPTYKGLLM
SLQNQLKESK SKIDALSSEK LNLQKDLETR PTQHELRLYK QQVKKLEKAL KKNVKLQELI
NHKKAEDTEK KDEPSKYNQQ QALIDQRYFQ VLCSINSIIH NPRAPVIIYK QTKGGVQNFN
KDLVQDCGFE HLVPVIEMWA DQLTSLKDLY KSLKTLSAEL VPWLNLKKQD ENEGIKVEDL
LFIVDTMLEE VENKEKDSNM PHFQTLQAIV SHFQKLFDVP SLNGVYPRMN EVYTRLGEMN
NAVRNLQELL ELDSSSSLCV LVSTVGKLCR LINEDVNEQV MQVLGPEDLQ SIIYKLEEHE
EFFPAFQAFT NDLLEILEID DLDAIVPAVK KLKVLSY*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999990684464 (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)

chr3:138289221C>TN/A show variant in all transcripts IGV

HGNC symbol

CEP70

Ensembl transcript ID

ENST00000464035

Genbank transcript ID

N/A

UniProt peptide

Q8NHQ1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.404G>A
cDNA.564G>A
g.24160G>A

AA changes

S135N Score: 46 explain score(s)

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

135

frameshift

known variant

Reference ID: rs1673607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	24594	-16421	8173

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.259	0.765
	-0.234	0.679
(flanking)	0.609	0.69

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	24155	0.54	mu: GAATCACTAAATAGG	ATCA\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

135

mutated

all conserved

135

Ptroglodytes

all conserved

ENSPTRG00000015448

135

Mmulatta

all conserved

ENSMMUG00000007760

135

Fcatus

not conserved

ENSFCAG00000013006

226

Mmusculus

all conserved

ENSMUSG00000056267

156

Ggallus

all conserved

ENSGALG00000012087

127

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076965

118

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
75	179	COILED	Potential.	lost
254	326	COILED	Potential.	might get lost (downstream of altered splice site)
293	293	CONFLICT	Q -> L (in Ref. 2; BAH12924).	might get lost (downstream of altered splice site)
371	371	CONFLICT	Q -> R (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
385	385	CONFLICT	Q -> R (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
393	393	CONFLICT	V -> A (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
471	471	CONFLICT	S -> P (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
478	478	CONFLICT	D -> G (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
483	516	REPEAT	TPR.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

639 / 639

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

213 / 213

position of stopcodon in wt / mu cDNA

799 / 799

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

161 / 161

chromosome

strand

-1

last intron/exon boundary

626

theoretical NMD boundary in CDS

415

length of CDS

639

coding sequence (CDS) position

404

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

564

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

24160

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

138289221

original gDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered gDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

original cDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered cDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

wildtype AA sequence

mutated AA sequence

speed

1.32 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.0577025938250679 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:138289221C>TN/A show variant in all transcripts IGV

HGNC symbol

CEP70

Ensembl transcript ID

ENST00000489254

Genbank transcript ID

N/A

UniProt peptide

Q8NHQ1

alteration type

single base exchange

alteration region

intron

DNA changes

g.24160G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1673607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	24594	-16421	8173

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.259	0.765
	-0.234	0.679
(flanking)	0.609	0.69

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	24155	0.54	mu: GAATCACTAAATAGG	ATCA\|ctaa

distance from splice site

21475

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
52	52	CONFLICT	Missing (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
75	179	COILED	Potential.	might get lost (downstream of altered splice site)
254	326	COILED	Potential.	might get lost (downstream of altered splice site)
293	293	CONFLICT	Q -> L (in Ref. 2; BAH12924).	might get lost (downstream of altered splice site)
371	371	CONFLICT	Q -> R (in Ref. 2; BAB14403).	might get lost (downstream of altered splice site)
385	385	CONFLICT	Q -> R (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
393	393	CONFLICT	V -> A (in Ref. 2; BAH13584).	might get lost (downstream of altered splice site)
471	471	CONFLICT	S -> P (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
478	478	CONFLICT	D -> G (in Ref. 1; AAG35616/AAG35791).	might get lost (downstream of altered splice site)
483	516	REPEAT	TPR.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

217 / 217

chromosome

strand

-1

last intron/exon boundary

1493

theoretical NMD boundary in CDS

1226

length of CDS

1338

coding sequence (CDS) position

N/A

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

N/A

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

24160

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

138289221

original gDNA sequence snippet

ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA

altered gDNA sequence snippet

ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTEVKCQHYK KKRTEQEETI ASLQMEVCRL KKEEEDRIVT QNRVFAYLCK RVPHTVLDRQ
LLCLIDYYES KIRKIHTQRQ YKEDESQSEE ENDYRNLDAS PTYKGLLMSL QNQLKESKSK
IDALSSEKLN LQKDLETRPT QHELRLYKQQ VKKLEKALKK NVKLQELINH KKAEDTEKKD
EPSKYNQQQA LIDQRYFQVL CSINSIIHNP RAPVIIYKQT KGGVQNFNKD LVQDCGFEHL
VPVIEMWADQ LTSLKDLYKS LKTLSAELVP WLNLKKQDEN EGIKVEDLLF IVDTMLEEVE
NKEKDSNMPH FQTLQAIVSH FQKLFDVPSL NGVYPRMNEV YTRLGEMNNA VRNLQELLEL
DSSSSLCVLV STVGKLCRLI NEDVNEQVMQ VLGPEDLQSI IYKLEEHEEF FPAFQAFTND
LLEILEIDDL DAIVPAVKKL KVLSY*

mutated AA sequence

N/A

speed

0.35 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems