MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000286186
Querying Taster for transcript #2: ENST00000272879
Querying Taster for transcript #3: ENST00000346817
Querying Taster for transcript #4: ENST00000313728
Querying Taster for transcript #5: ENST00000448480
Querying Taster for transcript #6: ENST00000360132
MT speed 0 s - this script 5.157723 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CASP10	polymorphism_automatic	7.99360577730113e-15	simple_aae		affected		L522I	single base exchange	rs13006529		show file
CASP10	polymorphism_automatic	7.99360577730113e-15	simple_aae		affected		L455I	single base exchange	rs13006529		show file
CASP10	polymorphism_automatic	7.99360577730113e-15	simple_aae		affected		L479I	single base exchange	rs13006529		show file
CASP10	polymorphism_automatic	7.41908340318176e-08	without_aae		affected			single base exchange	rs13006529		show file
CASP10	polymorphism_automatic	7.41908340318176e-08	without_aae		affected			single base exchange	rs13006529		show file
CASP10	polymorphism_automatic	7.41908340318176e-08	without_aae		affected			single base exchange	rs13006529		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202082459T>AN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000286186

Genbank transcript ID

NM_032977

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1564T>A
cDNA.1999T>A
g.34856T>A

AA changes

L522I Score: 5 explain score(s)

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

522

frameshift

known variant

Reference ID: rs13006529

database	homozygous (A/A)	heterozygous	allele carriers
1000G	289	1070	1359
ExAC	10769	11229	21998

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.506	0
	-0.434	0
(flanking)	-1.305	0

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	34848	wt: 0.3478 / mu: 0.3575 (marginal change - not scored)	wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG	atgc\|ACTT
Donor increased	34855	wt: 0.59 / mu: 0.75	wt: CTTTCATTATAGCAG mu: CTTTCAATATAGCAG	TTCA\|ttat
Donor marginally increased	34860	wt: 0.9641 / mu: 0.9793 (marginal change - not scored)	wt: ATTATAGCAGAGAGT mu: AATATAGCAGAGAGT	TATA\|gcag

distance from splice site

149

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

522

mutated

all conserved

522

Ptroglodytes

no alignment

ENSPTRG00000012800

n/a

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000017426

n/a

Drerio

no alignment

ENSDARG00000070272

n/a

Dmelanogaster

no alignment

FBgn0019972

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004145

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1569 / 1569

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

523 / 523

position of stopcodon in wt / mu cDNA

2004 / 2004

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

436 / 436

chromosome

strand

last intron/exon boundary

1851

theoretical NMD boundary in CDS

1365

length of CDS

1569

coding sequence (CDS) position

1564

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

1999

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

34856

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

202082459

original gDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered gDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

original cDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered cDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

wildtype AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPQE SWQNKHAGSN
GNRATNGAPS LVSRGMQGAS ANTLNSETST KRAAVYRMNR NHRGLCVIVN NHSFTSLKDR
QGTHKDAEIL SHVFQWLGFT VHIHNNVTKV EMEMVLQKQK CNPAHADGDC FVFCILTHGR
FGAVYSSDEA LIPIREIMSH FTALQCPRLA EKPKLFFIQA CQGEEIQPSV SIEADALNPE
QAPTSLQDSI PAEADFLLGL ATVPGYVSFR HVEEGSWYIQ SLCNHLKKLV PRHEDILSIL
TAVNDDVSRR VDKQGTKKQM PQPAFTLRKK LVFPVPLDAL SL*

mutated AA sequence

speed

0.96 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: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202082459T>AN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000313728

Genbank transcript ID

NM_001206524

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1363T>A
cDNA.1487T>A
g.34856T>A

AA changes

L455I Score: 5 explain score(s)

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

455

frameshift

known variant

Reference ID: rs13006529

database	homozygous (A/A)	heterozygous	allele carriers
1000G	289	1070	1359
ExAC	10769	11229	21998

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.506	0
	-0.434	0
(flanking)	-1.305	0

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	34848	wt: 0.3478 / mu: 0.3575 (marginal change - not scored)	wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG	atgc\|ACTT
Donor increased	34855	wt: 0.59 / mu: 0.75	wt: CTTTCATTATAGCAG mu: CTTTCAATATAGCAG	TTCA\|ttat
Donor marginally increased	34860	wt: 0.9641 / mu: 0.9793 (marginal change - not scored)	wt: ATTATAGCAGAGAGT mu: AATATAGCAGAGAGT	TATA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

455

mutated

all conserved

455

Ptroglodytes

no alignment

ENSPTRG00000012800

n/a

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000017426

n/a

Drerio

no alignment

ENSDARG00000070272

n/a

Dmelanogaster

no alignment

FBgn0019972

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004145

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1368 / 1368

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

456 / 456

position of stopcodon in wt / mu cDNA

1492 / 1492

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

125 / 125

chromosome

strand

last intron/exon boundary

1339

theoretical NMD boundary in CDS

1164

length of CDS

1368

coding sequence (CDS) position

1363

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

1487

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

34856

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

202082459

original gDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered gDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

original cDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered cDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

wildtype AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPQE SWQNKHAGSN
EILSHVFQWL GFTVHIHNNV TKVEMEMVLQ KQKCNPAHAD GDCFVFCILT HGRFGAVYSS
DEALIPIREI MSHFTALQCP RLAEKPKLFF IQACQGEEIQ PSVSIEADAL NPEQAPTSLQ
DSIPAEADFL LGLATVPGYV SFRHVEEGSW YIQSLCNHLK KLVPRHEDIL SILTAVNDDV
SRRVDKQGTK KQMPQPAFTL RKKLVFPVPL DALSL*

mutated AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPQE SWQNKHAGSN
EILSHVFQWL GFTVHIHNNV TKVEMEMVLQ KQKCNPAHAD GDCFVFCILT HGRFGAVYSS
DEALIPIREI MSHFTALQCP RLAEKPKLFF IQACQGEEIQ PSVSIEADAL NPEQAPTSLQ
DSIPAEADFL LGLATVPGYV SFRHVEEGSW YIQSLCNHLK KLVPRHEDIL SILTAVNDDV
SRRVDKQGTK KQMPQPAFTL RKKLVFPVPL DALSI*

speed

1.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202082459T>AN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000346817

Genbank transcript ID

NM_001230

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1435T>A
cDNA.1582T>A
g.34856T>A

AA changes

L479I Score: 5 explain score(s)

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

479

frameshift

known variant

Reference ID: rs13006529

database	homozygous (A/A)	heterozygous	allele carriers
1000G	289	1070	1359
ExAC	10769	11229	21998

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.506	0
	-0.434	0
(flanking)	-1.305	0

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	34848	wt: 0.3478 / mu: 0.3575 (marginal change - not scored)	wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG	atgc\|ACTT
Donor increased	34855	wt: 0.59 / mu: 0.75	wt: CTTTCATTATAGCAG mu: CTTTCAATATAGCAG	TTCA\|ttat
Donor marginally increased	34860	wt: 0.9641 / mu: 0.9793 (marginal change - not scored)	wt: ATTATAGCAGAGAGT mu: AATATAGCAGAGAGT	TATA\|gcag

distance from splice site

149

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

479

mutated

all conserved

479

Ptroglodytes

no alignment

ENSPTRG00000012800

n/a

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000017426

n/a

Drerio

no alignment

ENSDARG00000070272

n/a

Dmelanogaster

no alignment

FBgn0019972

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004145

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1440 / 1440

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

480 / 480

position of stopcodon in wt / mu cDNA

1587 / 1587

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

148 / 148

chromosome

strand

last intron/exon boundary

1434

theoretical NMD boundary in CDS

1236

length of CDS

1440

coding sequence (CDS) position

1435

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

1582

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

34856

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

202082459

original gDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered gDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

original cDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered cDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

wildtype AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPRA AVYRMNRNHR
GLCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRH EDILSILTAV NDDVSRRVDK QGTKKQMPQP AFTLRKKLVF PVPLDALSL*

mutated AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPRA AVYRMNRNHR
GLCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRH EDILSILTAV NDDVSRRVDK QGTKKQMPQP AFTLRKKLVF PVPLDALSI*

speed

1.13 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999925809166 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202082459T>AN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000272879

Genbank transcript ID

NM_032974

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

intron

DNA changes

g.34856T>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs13006529

database	homozygous (A/A)	heterozygous	allele carriers
1000G	289	1070	1359
ExAC	10769	11229	21998

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.506	0
	-0.434	0
(flanking)	-1.305	0

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	34848	wt: 0.3478 / mu: 0.3575 (marginal change - not scored)	wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG	atgc\|ACTT
Donor increased	34855	wt: 0.59 / mu: 0.75	wt: CTTTCATTATAGCAG mu: CTTTCAATATAGCAG	TTCA\|ttat
Donor marginally increased	34860	wt: 0.9641 / mu: 0.9793 (marginal change - not scored)	wt: ATTATAGCAGAGAGT mu: AATATAGCAGAGAGT	TATA\|gcag

distance from splice site

8174

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

no protein features affected

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

185 / 185

chromosome

strand

last intron/exon boundary

1600

theoretical NMD boundary in CDS

1365

length of CDS

1566

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)

34856

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

202082459

original gDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered gDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPQE SWQNKHAGSN
GNRATNGAPS LVSRGMQGAS ANTLNSETST KRAAVYRMNR NHRGLCVIVN NHSFTSLKDR
QGTHKDAEIL SHVFQWLGFT VHIHNNVTKV EMEMVLQKQK CNPAHADGDC FVFCILTHGR
FGAVYSSDEA LIPIREIMSH FTALQCPRLA EKPKLFFIQA CQGEEIQPSV SIEADALNPE
QAPTSLQDSI PAEADFLLGL ATVPGYVSFR HVEEGSWYIQ SLCNHLKKLV PRMLKFLEKT
MEIRGRKRTV WGAKQISATS LPTAISAQTP RPPMRRWSSV S*

mutated AA sequence

N/A

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999925809166 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202082459T>AN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000448480

Genbank transcript ID

NM_001206542

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

intron

DNA changes

g.34856T>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs13006529

database	homozygous (A/A)	heterozygous	allele carriers
1000G	289	1070	1359
ExAC	10769	11229	21998

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.506	0
	-0.434	0
(flanking)	-1.305	0

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	34848	wt: 0.3478 / mu: 0.3575 (marginal change - not scored)	wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG	atgc\|ACTT
Donor increased	34855	wt: 0.59 / mu: 0.75	wt: CTTTCATTATAGCAG mu: CTTTCAATATAGCAG	TTCA\|ttat
Donor marginally increased	34860	wt: 0.9641 / mu: 0.9793 (marginal change - not scored)	wt: ATTATAGCAGAGAGT mu: AATATAGCAGAGAGT	TATA\|gcag

distance from splice site

8174

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

no protein features affected

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

122 / 122

chromosome

strand

last intron/exon boundary

1408

theoretical NMD boundary in CDS

1236

length of CDS

1437

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)

34856

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

202082459

original gDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered gDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPRA AVYRMNRNHR
GLCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRM LKFLEKTMEI RGRKRTVWGA KQISATSLPT AISAQTPRPP MRRWSSVS*

mutated AA sequence

N/A

speed

0.63 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999925809166 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202082459T>AN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000360132

Genbank transcript ID

NM_032976

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1890T>A
g.34856T>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs13006529

database	homozygous (A/A)	heterozygous	allele carriers
1000G	289	1070	1359
ExAC	10769	11229	21998

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.506	0
	-0.434	0
(flanking)	-1.305	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change occurs after stopcodon (at aa 490)

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	34848	wt: 0.3478 / mu: 0.3575 (marginal change - not scored)	wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG	atgc\|ACTT
Donor increased	34855	wt: 0.59 / mu: 0.75	wt: CTTTCATTATAGCAG mu: CTTTCAATATAGCAG	TTCA\|ttat
Donor marginally increased	34860	wt: 0.9641 / mu: 0.9793 (marginal change - not scored)	wt: ATTATAGCAGAGAGT mu: AATATAGCAGAGAGT	TATA\|gcag

distance from splice site

149

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

signal is predicted to be ok

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

N/A

position of start ATG in wt / mu cDNA

419 / 419

chromosome

strand

last intron/exon boundary

1742

theoretical NMD boundary in CDS

1273

length of CDS

822

coding sequence (CDS) position

N/A

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

1890

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

34856

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

202082459

original gDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered gDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

original cDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered cDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

wildtype AA sequence

mutated AA sequence

N/A

speed

1.04 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