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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000369331
Querying Taster for transcript #2: ENST00000345633
Querying Taster for transcript #3: ENST00000369318
Querying Taster for transcript #4: ENST00000369315
Querying Taster for transcript #5: ENST00000369321
Querying Taster for transcript #6: ENST00000452490
MT speed 6.13 s - this script 5.328929 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CASP7	polymorphism_automatic	1.89366267000501e-07	simple_aae		affected		T244S	single base exchange	rs2227310		show file
CASP7	polymorphism_automatic	2.52675273409997e-05	simple_aae		affected		D288E	single base exchange	rs2227310		show file
CASP7	polymorphism_automatic	2.52675273409997e-05	simple_aae		affected		D230E	single base exchange	rs2227310		show file
CASP7	polymorphism_automatic	0.000127704675358054	simple_aae		affected		D255E	single base exchange	rs2227310		show file
CASP7	polymorphism_automatic	0.000127704675358054	simple_aae		affected		D255E	single base exchange	rs2227310		show file
CASP7	polymorphism_automatic	0.000127704675358054	simple_aae		affected		D255E	single base exchange	rs2227310		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999810633733 (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)

chr10:115489152C>GN/A show variant in all transcripts IGV

HGNC symbol

CASP7

Ensembl transcript ID

ENST00000369331

Genbank transcript ID

NM_033340

UniProt peptide

P55210

alteration type

single base exchange

alteration region

CDS

DNA changes

c.731C>G
cDNA.877C>G
g.50211C>G

AA changes

T244S Score: 58 explain score(s)

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

244

frameshift

known variant

Reference ID: rs2227310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	182	887	1069
ExAC	4335	22869	27204

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.959	0.063
	0.129	0.091
(flanking)	3.544	0.998

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	50205	0.39	mu: CACGGAAAAGAGCTG	CGGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

244

mutated

all conserved

244

Ptroglodytes

no alignment

ENSPTRG00000002952

n/a

Mmulatta

no alignment

ENSMMUG00000001217

n/a

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000025076

n/a

Ggallus

no alignment

ENSGALG00000008933

n/a

Trubripes

no alignment

ENSTRUG00000012543

n/a

Drerio

no alignment

ENSDARG00000091836

n/a

Dmelanogaster

no alignment

FBgn0019972

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000016471

n/a

protein features

start (aa)	end (aa)	feature	details
240	252	HELIX		lost
253	255	TURN		might get lost (downstream of altered splice site)
258	272	HELIX		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
290	293	STRAND		might get lost (downstream of altered splice site)
296	298	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

762 / 762

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

254 / 254

position of stopcodon in wt / mu cDNA

908 / 908

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

147 / 147

chromosome

strand

last intron/exon boundary

795

theoretical NMD boundary in CDS

598

length of CDS

762

coding sequence (CDS) position

731

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

877

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

50211

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

115489152

original gDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered gDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

original cDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered cDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

wildtype AA sequence

MADDQGCIEE QGVEDSANED SVDAKPDRSS FVPSLFSKKK KNVTMRSIKT TRDRVPTYQY
NMNFEKLGKC IIINNKNFDK VTGMGVRNGT DKDAEALFKC FRSLGFDVIV YNDCSCAKMQ
DLLKKASEED HTNAACFACI LLSHGEENME SCSVTQAGVQ RRDLGRLQPP PPRLAEGPSL
MMASRPTRGP SMTQMLILDT RSQWKLTSSS PIPRFQAITR GGAQEEAPGL CKPSAPSWRS
TEKTWKSCRS SPG*

mutated AA sequence

speed

0.95 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: 0.999974732472659 (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)

chr10:115489152C>GN/A show variant in all transcripts IGV

HGNC symbol

CASP7

Ensembl transcript ID

ENST00000369321

Genbank transcript ID

NM_001267058

UniProt peptide

P55210

alteration type

single base exchange

alteration region

CDS

DNA changes

c.864C>G
cDNA.1184C>G
g.50211C>G

AA changes

D288E Score: 45 explain score(s)

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

288

frameshift

known variant

Reference ID: rs2227310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	182	887	1069
ExAC	4335	22869	27204

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.959	0.063
	0.129	0.091
(flanking)	3.544	0.998

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	50205	0.39	mu: CACGGAAAAGAGCTG	CGGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

288

mutated

all conserved

288

Ptroglodytes

all identical

ENSPTRG00000002952

257

Mmulatta

all identical

ENSMMUG00000001217

219

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025076

255

Ggallus

not conserved

ENSGALG00000008933

225

Trubripes

not conserved

ENSTRUG00000012543

262

Drerio

not conserved

ENSDARG00000091836

269

Dmelanogaster

not conserved

FBgn0019972

281

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000016471

260

protein features

start (aa)	end (aa)	feature	details
290	293	STRAND		might get lost (downstream of altered splice site)
296	298	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1011 / 1011

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

337 / 337

position of stopcodon in wt / mu cDNA

1331 / 1331

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

321 / 321

chromosome

strand

last intron/exon boundary

1102

theoretical NMD boundary in CDS

731

length of CDS

1011

coding sequence (CDS) position

864

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

1184

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

50211

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

115489152

original gDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered gDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

original cDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered cDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

wildtype AA sequence

MDCVGWPPGR KWHLEKNTSC GGSSGICASY VTQMADDQGC IEEQGVEDSA NEDSVDAKPD
RSSFVPSLFS KKKKNVTMRS IKTTRDRVPT YQYNMNFEKL GKCIIINNKN FDKVTGMGVR
NGTDKDAEAL FKCFRSLGFD VIVYNDCSCA KMQDLLKKAS EEDHTNAACF ACILLSHGEE
NVIYGKDGVT PIKDLTAHFR GDRCKTLLEK PKLFFIQACR GTELDDGIQA DSGPINDTDA
NPRYKIPVEA DFLFAYSTVP GYYSWRSPGR GSWFVQALCS ILEEHGKDLE IMQILTRVND
RVARHFESQS DDPHFHEKKQ IPCVVSMLTK ELYFSQ*

mutated AA sequence

MDCVGWPPGR KWHLEKNTSC GGSSGICASY VTQMADDQGC IEEQGVEDSA NEDSVDAKPD
RSSFVPSLFS KKKKNVTMRS IKTTRDRVPT YQYNMNFEKL GKCIIINNKN FDKVTGMGVR
NGTDKDAEAL FKCFRSLGFD VIVYNDCSCA KMQDLLKKAS EEDHTNAACF ACILLSHGEE
NVIYGKDGVT PIKDLTAHFR GDRCKTLLEK PKLFFIQACR GTELDDGIQA DSGPINDTDA
NPRYKIPVEA DFLFAYSTVP GYYSWRSPGR GSWFVQALCS ILEEHGKELE IMQILTRVND
RVARHFESQS DDPHFHEKKQ IPCVVSMLTK ELYFSQ*

speed

1.02 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999974732472659 (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)

chr10:115489152C>GN/A show variant in all transcripts IGV

HGNC symbol

CASP7

Ensembl transcript ID

ENST00000452490

Genbank transcript ID

N/A

UniProt peptide

P55210

alteration type

single base exchange

alteration region

CDS

DNA changes

c.690C>G
cDNA.718C>G
g.50211C>G

AA changes

D230E Score: 45 explain score(s)

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

230

frameshift

known variant

Reference ID: rs2227310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	182	887	1069
ExAC	4335	22869	27204

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.959	0.063
	0.129	0.091
(flanking)	3.544	0.998

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	50205	0.39	mu: CACGGAAAAGAGCTG	CGGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

230

mutated

all conserved

230

Ptroglodytes

all identical

ENSPTRG00000002952

257

Mmulatta

all identical

ENSMMUG00000001217

219

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025076

255

Ggallus

not conserved

ENSGALG00000008933

225

Trubripes

not conserved

ENSTRUG00000012543

262

Drerio

not conserved

ENSDARG00000091836

269

Dmelanogaster

not conserved

FBgn0019972

281

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000016471

262

protein features

start (aa)	end (aa)	feature	details
232	234	STRAND		might get lost (downstream of altered splice site)
235	237	TURN		might get lost (downstream of altered splice site)
240	252	HELIX		might get lost (downstream of altered splice site)
253	255	TURN		might get lost (downstream of altered splice site)
258	272	HELIX		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
290	293	STRAND		might get lost (downstream of altered splice site)
296	298	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

837 / 837

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

279 / 279

position of stopcodon in wt / mu cDNA

865 / 865

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

29 / 29

chromosome

strand

last intron/exon boundary

636

theoretical NMD boundary in CDS

557

length of CDS

837

coding sequence (CDS) position

690

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

718

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

50211

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

115489152

original gDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered gDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

original cDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered cDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

wildtype AA sequence

MQRGLFSDGD TSKKKKNVTM RSIKTTRDRV PTYQYNMNFE KLGKCIIINN KNFDKVTGMG
VRNGTDKDAE ALFKCFRSLG FDVIVYNDCS CAKMQDLLKK ASEEDHTNAA CFACILLSHG
EENVIYGKDG VTPIKDLTAH FRGDRCKTLL EKPKLFFIQA CRGTELDDGI QADSGPINDT
DANPRYKIPV EADFLFAYST VPGYYSWRSP GRGSWFVQAL CSILEEHGKD LEIMQILTRV
NDRVARHFES QSDDPHFHEK KQIPCVVSML TKELYFSQ*

mutated AA sequence

MQRGLFSDGD TSKKKKNVTM RSIKTTRDRV PTYQYNMNFE KLGKCIIINN KNFDKVTGMG
VRNGTDKDAE ALFKCFRSLG FDVIVYNDCS CAKMQDLLKK ASEEDHTNAA CFACILLSHG
EENVIYGKDG VTPIKDLTAH FRGDRCKTLL EKPKLFFIQA CRGTELDDGI QADSGPINDT
DANPRYKIPV EADFLFAYST VPGYYSWRSP GRGSWFVQAL CSILEEHGKE LEIMQILTRV
NDRVARHFES QSDDPHFHEK KQIPCVVSML TKELYFSQ*

speed

1.01 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999872295324642 (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)

chr10:115489152C>GN/A show variant in all transcripts IGV

HGNC symbol

CASP7

Ensembl transcript ID

ENST00000345633

Genbank transcript ID

NM_001267058

UniProt peptide

P55210

alteration type

single base exchange

alteration region

CDS

DNA changes

c.765C>G
cDNA.1149C>G
g.50211C>G

AA changes

D255E Score: 45 explain score(s)

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

255

frameshift

known variant

Reference ID: rs2227310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	182	887	1069
ExAC	4335	22869	27204

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.959	0.063
	0.129	0.091
(flanking)	3.544	0.998

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	50205	0.39	mu: CACGGAAAAGAGCTG	CGGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

255

mutated

all conserved

255

Ptroglodytes

all identical

ENSPTRG00000002952

257

Mmulatta

all identical

ENSMMUG00000001217

219

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025076

255

Ggallus

not conserved

ENSGALG00000008933

225

Trubripes

not conserved

ENSTRUG00000012543

262

Drerio

not conserved

ENSDARG00000091836

269

Dmelanogaster

not conserved

FBgn0019972

281

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000016471

260

protein features

start (aa)	end (aa)	feature	details
253	255	TURN		lost
258	272	HELIX		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
290	293	STRAND		might get lost (downstream of altered splice site)
296	298	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

912 / 912

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

304 / 304

position of stopcodon in wt / mu cDNA

1296 / 1296

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

385 / 385

chromosome

strand

last intron/exon boundary

1067

theoretical NMD boundary in CDS

632

length of CDS

912

coding sequence (CDS) position

765

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

1149

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

50211

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

115489152

original gDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered gDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

original cDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered cDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

wildtype AA sequence

MADDQGCIEE QGVEDSANED SVDAKPDRSS FVPSLFSKKK KNVTMRSIKT TRDRVPTYQY
NMNFEKLGKC IIINNKNFDK VTGMGVRNGT DKDAEALFKC FRSLGFDVIV YNDCSCAKMQ
DLLKKASEED HTNAACFACI LLSHGEENVI YGKDGVTPIK DLTAHFRGDR CKTLLEKPKL
FFIQACRGTE LDDGIQADSG PINDTDANPR YKIPVEADFL FAYSTVPGYY SWRSPGRGSW
FVQALCSILE EHGKDLEIMQ ILTRVNDRVA RHFESQSDDP HFHEKKQIPC VVSMLTKELY
FSQ*

mutated AA sequence

MADDQGCIEE QGVEDSANED SVDAKPDRSS FVPSLFSKKK KNVTMRSIKT TRDRVPTYQY
NMNFEKLGKC IIINNKNFDK VTGMGVRNGT DKDAEALFKC FRSLGFDVIV YNDCSCAKMQ
DLLKKASEED HTNAACFACI LLSHGEENVI YGKDGVTPIK DLTAHFRGDR CKTLLEKPKL
FFIQACRGTE LDDGIQADSG PINDTDANPR YKIPVEADFL FAYSTVPGYY SWRSPGRGSW
FVQALCSILE EHGKELEIMQ ILTRVNDRVA RHFESQSDDP HFHEKKQIPC VVSMLTKELY
FSQ*

speed

1.04 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999872295324642 (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)

chr10:115489152C>GN/A show variant in all transcripts IGV

HGNC symbol

CASP7

Ensembl transcript ID

ENST00000369315

Genbank transcript ID

NM_001267058

UniProt peptide

P55210

alteration type

single base exchange

alteration region

CDS

DNA changes

c.765C>G
cDNA.911C>G
g.50211C>G

AA changes

D255E Score: 45 explain score(s)

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

255

frameshift

known variant

Reference ID: rs2227310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	182	887	1069
ExAC	4335	22869	27204

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.959	0.063
	0.129	0.091
(flanking)	3.544	0.998

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	50205	0.39	mu: CACGGAAAAGAGCTG	CGGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

255

mutated

all conserved

255

Ptroglodytes

all identical

ENSPTRG00000002952

257

Mmulatta

all identical

ENSMMUG00000001217

219

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025076

255

Ggallus

not conserved

ENSGALG00000008933

225

Trubripes

not conserved

ENSTRUG00000012543

262

Drerio

not conserved

ENSDARG00000091836

269

Dmelanogaster

not conserved

FBgn0019972

281

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000016471

260

protein features

start (aa)	end (aa)	feature	details
253	255	TURN		lost
258	272	HELIX		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
290	293	STRAND		might get lost (downstream of altered splice site)
296	298	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

912 / 912

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

304 / 304

position of stopcodon in wt / mu cDNA

1058 / 1058

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

147 / 147

chromosome

strand

last intron/exon boundary

829

theoretical NMD boundary in CDS

632

length of CDS

912

coding sequence (CDS) position

765

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

911

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

50211

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

115489152

original gDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered gDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

original cDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered cDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

wildtype AA sequence

mutated AA sequence

MADDQGCIEE QGVEDSANED SVDAKPDRSS FVPSLFSKKK KNVTMRSIKT TRDRVPTYQY
NMNFEKLGKC IIINNKNFDK VTGMGVRNGT DKDAEALFKC FRSLGFDVIV YNDCSCAKMQ
DLLKKASEED HTNAACFACI LLSHGEENVI YGKDGVTPIK DLTAHFRGDR CKTLLEKPKL
FFIQACRGTE LDDGIQADSG PINDTDANPR YKIPVEADFL FAYSTVPGYY SWRSPGRGSW
FVQALCSILE EHGKELEIMQ ILTRVNDRVA RHFESQSDDP HFHEKKQIPC VVSMLTKELY
FSQ*

speed

1.08 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999872295324642 (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)

chr10:115489152C>GN/A show variant in all transcripts IGV

HGNC symbol

CASP7

Ensembl transcript ID

ENST00000369318

Genbank transcript ID

NM_001227

UniProt peptide

P55210

alteration type

single base exchange

alteration region

CDS

DNA changes

c.765C>G
cDNA.867C>G
g.50211C>G

AA changes

D255E Score: 45 explain score(s)

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

255

frameshift

known variant

Reference ID: rs2227310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	182	887	1069
ExAC	4335	22869	27204

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.959	0.063
	0.129	0.091
(flanking)	3.544	0.998

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	50205	0.39	mu: CACGGAAAAGAGCTG	CGGA\|aaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

255

mutated

all conserved

255

Ptroglodytes

all identical

ENSPTRG00000002952

257

Mmulatta

all identical

ENSMMUG00000001217

219

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000025076

255

Ggallus

not conserved

ENSGALG00000008933

225

Trubripes

not conserved

ENSTRUG00000012543

262

Drerio

not conserved

ENSDARG00000091836

269

Dmelanogaster

not conserved

FBgn0019972

281

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000016471

260

protein features

start (aa)	end (aa)	feature	details
253	255	TURN		lost
258	272	HELIX		might get lost (downstream of altered splice site)
280	282	HELIX		might get lost (downstream of altered splice site)
290	293	STRAND		might get lost (downstream of altered splice site)
296	298	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

912 / 912

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

304 / 304

position of stopcodon in wt / mu cDNA

1014 / 1014

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

103 / 103

chromosome

strand

last intron/exon boundary

785

theoretical NMD boundary in CDS

632

length of CDS

912

coding sequence (CDS) position

765

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

867

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

50211

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

115489152

original gDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered gDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

original cDNA sequence snippet

CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT

altered cDNA sequence snippet

CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT

wildtype AA sequence

mutated AA sequence

MADDQGCIEE QGVEDSANED SVDAKPDRSS FVPSLFSKKK KNVTMRSIKT TRDRVPTYQY
NMNFEKLGKC IIINNKNFDK VTGMGVRNGT DKDAEALFKC FRSLGFDVIV YNDCSCAKMQ
DLLKKASEED HTNAACFACI LLSHGEENVI YGKDGVTPIK DLTAHFRGDR CKTLLEKPKL
FFIQACRGTE LDDGIQADSG PINDTDANPR YKIPVEADFL FAYSTVPGYY SWRSPGRGSW
FVQALCSILE EHGKELEIMQ ILTRVNDRVA RHFESQSDDP HFHEKKQIPC VVSMLTKELY
FSQ*

speed

1.03 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

Problems