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: ENST00000352393
Querying Taster for transcript #2: ENST00000317677
Querying Taster for transcript #3: ENST00000397442
Querying Taster for transcript #4: ENST00000317619
Querying Taster for transcript #5: ENST00000397446
Querying Taster for transcript #6: ENST00000397445
Querying Taster for transcript #7: ENST00000397443
MT speed 0 s - this script 5.98703 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CPNE1	polymorphism_automatic	0.000111822137532025	simple_aae		affected		Q211R	single base exchange	rs6579255		show file
CPNE1	polymorphism_automatic	0.000111822137532025	simple_aae		affected		Q216R	single base exchange	rs6579255		show file
CPNE1	polymorphism_automatic	0.000111822137532025	simple_aae		affected		Q211R	single base exchange	rs6579255		show file
CPNE1	polymorphism_automatic	0.000111822137532025	simple_aae		affected		Q211R	single base exchange	rs6579255		show file
CPNE1	polymorphism_automatic	0.000111822137532025	simple_aae		affected		Q211R	single base exchange	rs6579255		show file
CPNE1	polymorphism_automatic	0.000111822137532025	simple_aae		affected		Q211R	single base exchange	rs6579255		show file
CPNE1	polymorphism_automatic	0.000111822137532025	simple_aae		affected		Q211R	single base exchange	rs6579255		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999888177862468 (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)

chr20:34219496T>CN/A show variant in all transcripts IGV

HGNC symbol

CPNE1

Ensembl transcript ID

ENST00000352393

Genbank transcript ID

NM_001198863

UniProt peptide

Q99829

alteration type

single base exchange

alteration region

CDS

DNA changes

c.632A>G
cDNA.955A>G
g.33383A>G

AA changes

Q211R Score: 43 explain score(s)

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

211

frameshift

known variant

Reference ID: rs6579255

database	homozygous (C/C)	heterozygous	allele carriers
1000G	227	908	1135
ExAC	3469	20013	23482

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.259	0.968
	1.8	0.998
(flanking)	3.75	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
Acc marginally increased	33377	wt: 0.6003 / mu: 0.6567 (marginal change - not scored)	wt: TCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATG mu: TCCACACACACCTTTCCCTCAGGTGCGATGCTCCGATTATG	ctca\|GGTG
Acc increased	33382	wt: 0.38 / mu: 0.69	wt: ACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGT mu: ACACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGT	gtgc\|AATG
Donor increased	33377	wt: 0.47 / mu: 0.87	wt: CCCTCAGGTGCAATG mu: CCCTCAGGTGCGATG	CTCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

211

mutated

all conserved

211

Ptroglodytes

all conserved

ENSPTRG00000040708

Mmulatta

all conserved

ENSMMUG00000020960

208

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000074643

n/a

Ggallus

all identical

ENSGALG00000001627

222

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075536

213

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007428

212

protein features

start (aa)	end (aa)	feature	details
144	228	DOMAIN	C2 2.	lost
285	505	DOMAIN	VWFA.	might get lost (downstream of altered splice site)
332	339	CONFLICT	SDKLFPAF -> NSARAARV (in Ref. 6; AAG49297).	might get lost (downstream of altered splice site)
367	367	CONFLICT	A -> V (in Ref. 2; CAG33071).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1614 / 1614

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

538 / 538

position of stopcodon in wt / mu cDNA

1937 / 1937

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

324 / 324

chromosome

strand

-1

last intron/exon boundary

1797

theoretical NMD boundary in CDS

1423

length of CDS

1614

coding sequence (CDS) position

632

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

955

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

33383

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

34219496

original gDNA sequence snippet

CACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTG

altered gDNA sequence snippet

CACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGTG

original cDNA sequence snippet

CAGCACACCCATCCAGGTGCAATGCTCCGATTATGACAGTG

altered cDNA sequence snippet

CAGCACACCCATCCAGGTGCGATGCTCCGATTATGACAGTG

wildtype AA sequence

MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV QCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVVRASN LPMSVIIVGV GGADFEAMEQ LDADGGPLHT RSGQAAARDI
VQFVPYRRFQ NAPREALAQT VLAEVPTQLV SYFRAQGWAP LKPLPPSAKD PAQAPQA*

mutated AA sequence

MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV RCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVVRASN LPMSVIIVGV GGADFEAMEQ LDADGGPLHT RSGQAAARDI
VQFVPYRRFQ NAPREALAQT VLAEVPTQLV SYFRAQGWAP LKPLPPSAKD PAQAPQA*

speed

0.99 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: 0.999888177862468 (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)

chr20:34219496T>CN/A show variant in all transcripts IGV

HGNC symbol

CPNE1

Ensembl transcript ID

ENST00000317677

Genbank transcript ID

NM_003915

UniProt peptide

Q99829

alteration type

single base exchange

alteration region

CDS

DNA changes

c.647A>G
cDNA.782A>G
g.33383A>G

AA changes

Q216R Score: 43 explain score(s)

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

216

frameshift

known variant

Reference ID: rs6579255

database	homozygous (C/C)	heterozygous	allele carriers
1000G	227	908	1135
ExAC	3469	20013	23482

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.259	0.968
	1.8	0.998
(flanking)	3.75	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
Acc marginally increased	33377	wt: 0.6003 / mu: 0.6567 (marginal change - not scored)	wt: TCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATG mu: TCCACACACACCTTTCCCTCAGGTGCGATGCTCCGATTATG	ctca\|GGTG
Acc increased	33382	wt: 0.38 / mu: 0.69	wt: ACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGT mu: ACACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGT	gtgc\|AATG
Donor increased	33377	wt: 0.47 / mu: 0.87	wt: CCCTCAGGTGCAATG mu: CCCTCAGGTGCGATG	CTCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

216

mutated

all conserved

216

Ptroglodytes

all conserved

ENSPTRG00000040708

Mmulatta

all conserved

ENSMMUG00000020960

208

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000074643

n/a

Ggallus

all identical

ENSGALG00000001627

222

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075536

213

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007428

212

protein features

start (aa)	end (aa)	feature	details
144	228	DOMAIN	C2 2.	lost
285	505	DOMAIN	VWFA.	might get lost (downstream of altered splice site)
332	339	CONFLICT	SDKLFPAF -> NSARAARV (in Ref. 6; AAG49297).	might get lost (downstream of altered splice site)
367	367	CONFLICT	A -> V (in Ref. 2; CAG33071).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1629 / 1629

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

543 / 543

position of stopcodon in wt / mu cDNA

1764 / 1764

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

136 / 136

chromosome

strand

-1

last intron/exon boundary

1624

theoretical NMD boundary in CDS

1438

length of CDS

1629

coding sequence (CDS) position

647

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

782

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

33383

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

34219496

original gDNA sequence snippet

CACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTG

altered gDNA sequence snippet

CACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGTG

original cDNA sequence snippet

CAGCACACCCATCCAGGTGCAATGCTCCGATTATGACAGTG

altered cDNA sequence snippet

CAGCACACCCATCCAGGTGCGATGCTCCGATTATGACAGTG

wildtype AA sequence

MKMMHMAHCV TLVQLSISCD HLIDKDIGSK SDPLCVLLQD VGGGSWAELG RTERVRNCSS
PEFSKTLQLE YRFETVQKLR FGIYDIDNKT PELRDDDFLG GAECSLGQIV SSQVLTLPLM
LKPGKPAGRG TITVSAQELK DNRVVTMEVE ARNLDKKDFL GKSDPFLEFF RQGDGKWHLV
YRSEVIKNNL NPTWKRFSVP VQHFCGGNPS TPIQVQCSDY DSDGSHDLIG TFHTSLAQLQ
AVPAEFECIH PEKQQKKKSY KNSGTIRVKI CRVETEYSFL DYVMGGCQIN FTVGVDFTGS
NGDPSSPDSL HYLSPTGVNE YLMALWSVGS VVQDYDSDKL FPAFGFGAQV PPDWQVSHEF
ALNFNPSNPY CAGIQGIVDA YRQALPQVRL YGPTNFAPII NHVARFAAQA AHQGTASQYF
MLLLLTDGAV TDVEATREAV VRASNLPMSV IIVGVGGADF EAMEQLDADG GPLHTRSGQA
AARDIVQFVP YRRFQNAPRE ALAQTVLAEV PTQLVSYFRA QGWAPLKPLP PSAKDPAQAP
QA*

mutated AA sequence

MKMMHMAHCV TLVQLSISCD HLIDKDIGSK SDPLCVLLQD VGGGSWAELG RTERVRNCSS
PEFSKTLQLE YRFETVQKLR FGIYDIDNKT PELRDDDFLG GAECSLGQIV SSQVLTLPLM
LKPGKPAGRG TITVSAQELK DNRVVTMEVE ARNLDKKDFL GKSDPFLEFF RQGDGKWHLV
YRSEVIKNNL NPTWKRFSVP VQHFCGGNPS TPIQVRCSDY DSDGSHDLIG TFHTSLAQLQ
AVPAEFECIH PEKQQKKKSY KNSGTIRVKI CRVETEYSFL DYVMGGCQIN FTVGVDFTGS
NGDPSSPDSL HYLSPTGVNE YLMALWSVGS VVQDYDSDKL FPAFGFGAQV PPDWQVSHEF
ALNFNPSNPY CAGIQGIVDA YRQALPQVRL YGPTNFAPII NHVARFAAQA AHQGTASQYF
MLLLLTDGAV TDVEATREAV VRASNLPMSV IIVGVGGADF EAMEQLDADG GPLHTRSGQA
AARDIVQFVP YRRFQNAPRE ALAQTVLAEV PTQLVSYFRA QGWAPLKPLP PSAKDPAQAP
QA*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999888177862468 (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)

chr20:34219496T>CN/A show variant in all transcripts IGV

HGNC symbol

CPNE1

Ensembl transcript ID

ENST00000397442

Genbank transcript ID

N/A

UniProt peptide

Q99829

alteration type

single base exchange

alteration region

CDS

DNA changes

c.632A>G
cDNA.706A>G
g.33383A>G

AA changes

Q211R Score: 43 explain score(s)

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

211

frameshift

known variant

Reference ID: rs6579255

database	homozygous (C/C)	heterozygous	allele carriers
1000G	227	908	1135
ExAC	3469	20013	23482

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.259	0.968
	1.8	0.998
(flanking)	3.75	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
Acc marginally increased	33377	wt: 0.6003 / mu: 0.6567 (marginal change - not scored)	wt: TCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATG mu: TCCACACACACCTTTCCCTCAGGTGCGATGCTCCGATTATG	ctca\|GGTG
Acc increased	33382	wt: 0.38 / mu: 0.69	wt: ACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGT mu: ACACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGT	gtgc\|AATG
Donor increased	33377	wt: 0.47 / mu: 0.87	wt: CCCTCAGGTGCAATG mu: CCCTCAGGTGCGATG	CTCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

211

mutated

all conserved

211

Ptroglodytes

all conserved

ENSPTRG00000040708

Mmulatta

all conserved

ENSMMUG00000020960

208

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000074643

n/a

Ggallus

all identical

ENSGALG00000001627

222

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075536

213

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007428

212

protein features

start (aa)	end (aa)	feature	details
144	228	DOMAIN	C2 2.	lost
285	505	DOMAIN	VWFA.	might get lost (downstream of altered splice site)
332	339	CONFLICT	SDKLFPAF -> NSARAARV (in Ref. 6; AAG49297).	might get lost (downstream of altered splice site)
367	367	CONFLICT	A -> V (in Ref. 2; CAG33071).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1446 / 1446

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

482 / 482

position of stopcodon in wt / mu cDNA

1520 / 1520

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

75 / 75

chromosome

strand

-1

last intron/exon boundary

1380

theoretical NMD boundary in CDS

1255

length of CDS

1446

coding sequence (CDS) position

632

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

706

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

33383

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

34219496

original gDNA sequence snippet

CACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTG

altered gDNA sequence snippet

CACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGTG

original cDNA sequence snippet

CAGCACACCCATCCAGGTGCAATGCTCCGATTATGACAGTG

altered cDNA sequence snippet

CAGCACACCCATCCAGGTGCGATGCTCCGATTATGACAGTG

wildtype AA sequence

MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV QCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVAPREA LAQTVLAEVP TQLVSYFRAQ GWAPLKPLPP SAKDPAQAPQ
A*

mutated AA sequence

MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV RCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVAPREA LAQTVLAEVP TQLVSYFRAQ GWAPLKPLPP SAKDPAQAPQ
A*

speed

0.97 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999888177862468 (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)

chr20:34219496T>CN/A show variant in all transcripts IGV

HGNC symbol

CPNE1

Ensembl transcript ID

ENST00000317619

Genbank transcript ID

N/A

UniProt peptide

Q99829

alteration type

single base exchange

alteration region

CDS

DNA changes

c.632A>G
cDNA.1027A>G
g.33383A>G

AA changes

Q211R Score: 43 explain score(s)

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

211

frameshift

known variant

Reference ID: rs6579255

database	homozygous (C/C)	heterozygous	allele carriers
1000G	227	908	1135
ExAC	3469	20013	23482

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.259	0.968
	1.8	0.998
(flanking)	3.75	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
Acc marginally increased	33377	wt: 0.6003 / mu: 0.6567 (marginal change - not scored)	wt: TCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATG mu: TCCACACACACCTTTCCCTCAGGTGCGATGCTCCGATTATG	ctca\|GGTG
Acc increased	33382	wt: 0.38 / mu: 0.69	wt: ACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGT mu: ACACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGT	gtgc\|AATG
Donor increased	33377	wt: 0.47 / mu: 0.87	wt: CCCTCAGGTGCAATG mu: CCCTCAGGTGCGATG	CTCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

211

mutated

all conserved

211

Ptroglodytes

all conserved

ENSPTRG00000040708

Mmulatta

all conserved

ENSMMUG00000020960

208

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000074643

n/a

Ggallus

all identical

ENSGALG00000001627

222

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075536

213

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007428

212

protein features

start (aa)	end (aa)	feature	details
144	228	DOMAIN	C2 2.	lost
285	505	DOMAIN	VWFA.	might get lost (downstream of altered splice site)
332	339	CONFLICT	SDKLFPAF -> NSARAARV (in Ref. 6; AAG49297).	might get lost (downstream of altered splice site)
367	367	CONFLICT	A -> V (in Ref. 2; CAG33071).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1614 / 1614

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

538 / 538

position of stopcodon in wt / mu cDNA

2009 / 2009

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

396 / 396

chromosome

strand

-1

last intron/exon boundary

1869

theoretical NMD boundary in CDS

1423

length of CDS

1614

coding sequence (CDS) position

632

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

1027

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

33383

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

34219496

original gDNA sequence snippet

CACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTG

altered gDNA sequence snippet

CACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGTG

original cDNA sequence snippet

CAGCACACCCATCCAGGTGCAATGCTCCGATTATGACAGTG

altered cDNA sequence snippet

CAGCACACCCATCCAGGTGCGATGCTCCGATTATGACAGTG

wildtype AA sequence

mutated AA sequence

MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV RCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVVRASN LPMSVIIVGV GGADFEAMEQ LDADGGPLHT RSGQAAARDI
VQFVPYRRFQ NAPREALAQT VLAEVPTQLV SYFRAQGWAP LKPLPPSAKD PAQAPQA*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999888177862468 (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)

chr20:34219496T>CN/A show variant in all transcripts IGV

HGNC symbol

CPNE1

Ensembl transcript ID

ENST00000397446

Genbank transcript ID

N/A

UniProt peptide

Q99829

alteration type

single base exchange

alteration region

CDS

DNA changes

c.632A>G
cDNA.900A>G
g.33383A>G

AA changes

Q211R Score: 43 explain score(s)

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

211

frameshift

known variant

Reference ID: rs6579255

database	homozygous (C/C)	heterozygous	allele carriers
1000G	227	908	1135
ExAC	3469	20013	23482

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.259	0.968
	1.8	0.998
(flanking)	3.75	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
Acc marginally increased	33377	wt: 0.6003 / mu: 0.6567 (marginal change - not scored)	wt: TCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATG mu: TCCACACACACCTTTCCCTCAGGTGCGATGCTCCGATTATG	ctca\|GGTG
Acc increased	33382	wt: 0.38 / mu: 0.69	wt: ACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGT mu: ACACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGT	gtgc\|AATG
Donor increased	33377	wt: 0.47 / mu: 0.87	wt: CCCTCAGGTGCAATG mu: CCCTCAGGTGCGATG	CTCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

211

mutated

all conserved

211

Ptroglodytes

all conserved

ENSPTRG00000040708

Mmulatta

all conserved

ENSMMUG00000020960

208

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000074643

n/a

Ggallus

all identical

ENSGALG00000001627

222

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075536

213

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007428

212

protein features

start (aa)	end (aa)	feature	details
144	228	DOMAIN	C2 2.	lost
285	505	DOMAIN	VWFA.	might get lost (downstream of altered splice site)
332	339	CONFLICT	SDKLFPAF -> NSARAARV (in Ref. 6; AAG49297).	might get lost (downstream of altered splice site)
367	367	CONFLICT	A -> V (in Ref. 2; CAG33071).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1614 / 1614

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

538 / 538

position of stopcodon in wt / mu cDNA

1882 / 1882

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

269 / 269

chromosome

strand

-1

last intron/exon boundary

1742

theoretical NMD boundary in CDS

1423

length of CDS

1614

coding sequence (CDS) position

632

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

900

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

33383

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

34219496

original gDNA sequence snippet

CACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTG

altered gDNA sequence snippet

CACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGTG

original cDNA sequence snippet

CAGCACACCCATCCAGGTGCAATGCTCCGATTATGACAGTG

altered cDNA sequence snippet

CAGCACACCCATCCAGGTGCGATGCTCCGATTATGACAGTG

wildtype AA sequence

mutated AA sequence

MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV RCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVVRASN LPMSVIIVGV GGADFEAMEQ LDADGGPLHT RSGQAAARDI
VQFVPYRRFQ NAPREALAQT VLAEVPTQLV SYFRAQGWAP LKPLPPSAKD PAQAPQA*

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999888177862468 (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)

chr20:34219496T>CN/A show variant in all transcripts IGV

HGNC symbol

CPNE1

Ensembl transcript ID

ENST00000397445

Genbank transcript ID

NM_152927

UniProt peptide

Q99829

alteration type

single base exchange

alteration region

CDS

DNA changes

c.632A>G
cDNA.884A>G
g.33383A>G

AA changes

Q211R Score: 43 explain score(s)

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

211

frameshift

known variant

Reference ID: rs6579255

database	homozygous (C/C)	heterozygous	allele carriers
1000G	227	908	1135
ExAC	3469	20013	23482

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.259	0.968
	1.8	0.998
(flanking)	3.75	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
Acc marginally increased	33377	wt: 0.6003 / mu: 0.6567 (marginal change - not scored)	wt: TCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATG mu: TCCACACACACCTTTCCCTCAGGTGCGATGCTCCGATTATG	ctca\|GGTG
Acc increased	33382	wt: 0.38 / mu: 0.69	wt: ACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGT mu: ACACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGT	gtgc\|AATG
Donor increased	33377	wt: 0.47 / mu: 0.87	wt: CCCTCAGGTGCAATG mu: CCCTCAGGTGCGATG	CTCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

211

mutated

all conserved

211

Ptroglodytes

all conserved

ENSPTRG00000040708

Mmulatta

all conserved

ENSMMUG00000020960

208

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000074643

n/a

Ggallus

all identical

ENSGALG00000001627

222

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075536

213

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007428

212

protein features

start (aa)	end (aa)	feature	details
144	228	DOMAIN	C2 2.	lost
285	505	DOMAIN	VWFA.	might get lost (downstream of altered splice site)
332	339	CONFLICT	SDKLFPAF -> NSARAARV (in Ref. 6; AAG49297).	might get lost (downstream of altered splice site)
367	367	CONFLICT	A -> V (in Ref. 2; CAG33071).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1614 / 1614

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

538 / 538

position of stopcodon in wt / mu cDNA

1866 / 1866

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

1726

theoretical NMD boundary in CDS

1423

length of CDS

1614

coding sequence (CDS) position

632

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

884

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

33383

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

34219496

original gDNA sequence snippet

CACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTG

altered gDNA sequence snippet

CACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGTG

original cDNA sequence snippet

CAGCACACCCATCCAGGTGCAATGCTCCGATTATGACAGTG

altered cDNA sequence snippet

CAGCACACCCATCCAGGTGCGATGCTCCGATTATGACAGTG

wildtype AA sequence

mutated AA sequence

MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV RCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVVRASN LPMSVIIVGV GGADFEAMEQ LDADGGPLHT RSGQAAARDI
VQFVPYRRFQ NAPREALAQT VLAEVPTQLV SYFRAQGWAP LKPLPPSAKD PAQAPQA*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999888177862468 (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)

chr20:34219496T>CN/A show variant in all transcripts IGV

HGNC symbol

CPNE1

Ensembl transcript ID

ENST00000397443

Genbank transcript ID

NM_152925

UniProt peptide

Q99829

alteration type

single base exchange

alteration region

CDS

DNA changes

c.632A>G
cDNA.799A>G
g.33383A>G

AA changes

Q211R Score: 43 explain score(s)

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

211

frameshift

known variant

Reference ID: rs6579255

database	homozygous (C/C)	heterozygous	allele carriers
1000G	227	908	1135
ExAC	3469	20013	23482

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.259	0.968
	1.8	0.998
(flanking)	3.75	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
Acc marginally increased	33377	wt: 0.6003 / mu: 0.6567 (marginal change - not scored)	wt: TCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATG mu: TCCACACACACCTTTCCCTCAGGTGCGATGCTCCGATTATG	ctca\|GGTG
Acc increased	33382	wt: 0.38 / mu: 0.69	wt: ACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGT mu: ACACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGT	gtgc\|AATG
Donor increased	33377	wt: 0.47 / mu: 0.87	wt: CCCTCAGGTGCAATG mu: CCCTCAGGTGCGATG	CTCA\|ggtg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

211

mutated

all conserved

211

Ptroglodytes

all conserved

ENSPTRG00000040708

Mmulatta

all conserved

ENSMMUG00000020960

208

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000074643

n/a

Ggallus

all identical

ENSGALG00000001627

222

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075536

213

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007428

212

protein features

start (aa)	end (aa)	feature	details
144	228	DOMAIN	C2 2.	lost
285	505	DOMAIN	VWFA.	might get lost (downstream of altered splice site)
332	339	CONFLICT	SDKLFPAF -> NSARAARV (in Ref. 6; AAG49297).	might get lost (downstream of altered splice site)
367	367	CONFLICT	A -> V (in Ref. 2; CAG33071).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1614 / 1614

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

538 / 538

position of stopcodon in wt / mu cDNA

1781 / 1781

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

168 / 168

chromosome

strand

-1

last intron/exon boundary

1641

theoretical NMD boundary in CDS

1423

length of CDS

1614

coding sequence (CDS) position

632

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

799

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

33383

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

34219496

original gDNA sequence snippet

CACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTG

altered gDNA sequence snippet

CACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGTG

original cDNA sequence snippet

CAGCACACCCATCCAGGTGCAATGCTCCGATTATGACAGTG

altered cDNA sequence snippet

CAGCACACCCATCCAGGTGCGATGCTCCGATTATGACAGTG

wildtype AA sequence

mutated AA sequence

MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV RCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVVRASN LPMSVIIVGV GGADFEAMEQ LDADGGPLHT RSGQAAARDI
VQFVPYRRFQ NAPREALAQT VLAEVPTQLV SYFRAQGWAP LKPLPPSAKD PAQAPQA*

speed

0.90 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