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: 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 6.868205 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CASP10	polymorphism	1.8579582317102e-12	simple_aae		affected		L285F	single base exchange	rs17860403		show file
CASP10	polymorphism	1.8579582317102e-12	simple_aae		affected		L242F	single base exchange	rs17860403		show file
CASP10	polymorphism	1.8579582317102e-12	simple_aae		affected		L285F	single base exchange	rs17860403		show file
CASP10	polymorphism	1.8579582317102e-12	simple_aae		affected		L242F	single base exchange	rs17860403		show file
CASP10	polymorphism	8.75882033568587e-10	simple_aae		affected		P254L	single base exchange	rs17860403		show file
CASP10	polymorphism	7.2108337967336e-08	without_aae		affected			single base exchange	rs17860403		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998142 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM990324)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202072837C>TN/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.853C>T
cDNA.1288C>T
g.25234C>T

AA changes

L285F Score: 22 explain score(s)

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

285

frameshift

known variant

Reference ID: rs17860403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.004
	-0.504	0
(flanking)	-0.134	0.004

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 increased	25228	wt: 0.73 / mu: 0.81	wt: ACCACAGAGGCCTCT mu: ACCACAGAGGCTTCT	CACA\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

285

mutated

not conserved

285

Ptroglodytes

all identical

ENSPTRG00000012800

284

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000017426

254

FRV

Drerio

all conserved

ENSDARG00000070272

278

VEQ

Dmelanogaster

all conserved

FBgn0019972

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004145

269

protein features

start (aa)	end (aa)	feature	details
358	358	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	MUTAGEN	C->A: Abolishes proteolytic activity.	might get lost (downstream of altered splice site)

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

853

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

1288

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

25234

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

202072837

original gDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered gDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

original cDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered cDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

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

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 NHRGFCVIVN NHSFTSLKDR
QGTHKDAEIL SHVFQWLGFT VHIHNNVTKV EMEMVLQKQK CNPAHADGDC FVFCILTHGR
FGAVYSSDEA LIPIREIMSH FTALQCPRLA EKPKLFFIQA CQGEEIQPSV SIEADALNPE
QAPTSLQDSI PAEADFLLGL ATVPGYVSFR HVEEGSWYIQ SLCNHLKKLV PRHEDILSIL
TAVNDDVSRR VDKQGTKKQM PQPAFTLRKK LVFPVPLDAL SL*

speed

1.48 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: 0.999999999998142 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM990324)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202072837C>TN/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.724C>T
cDNA.871C>T
g.25234C>T

AA changes

L242F Score: 22 explain score(s)

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

242

frameshift

known variant

Reference ID: rs17860403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.004
	-0.504	0
(flanking)	-0.134	0.004

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 increased	25228	wt: 0.73 / mu: 0.81	wt: ACCACAGAGGCCTCT mu: ACCACAGAGGCTTCT	CACA\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

242

mutated

not conserved

242

Ptroglodytes

all identical

ENSPTRG00000012800

253

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000017426

249

FRV

Drerio

all conserved

ENSDARG00000070272

280

Dmelanogaster

all conserved

FBgn0019972

EVP

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004145

264

protein features

start (aa)	end (aa)	feature	details
268	268	CONFLICT	T -> A (in Ref. 3; AAD28403).	might get lost (downstream of altered splice site)
358	358	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	MUTAGEN	C->A: Abolishes proteolytic activity.	might get lost (downstream of altered splice site)

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

724

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

871

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

25234

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

202072837

original gDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered gDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

original cDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered cDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

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
GFCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRH EDILSILTAV NDDVSRRVDK QGTKKQMPQP AFTLRKKLVF PVPLDALSL*

speed

1.40 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998142 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM990324)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202072837C>TN/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

CDS

DNA changes

c.853C>T
cDNA.1037C>T
g.25234C>T

AA changes

L285F Score: 22 explain score(s)

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

285

frameshift

known variant

Reference ID: rs17860403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.004
	-0.504	0
(flanking)	-0.134	0.004

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 increased	25228	wt: 0.73 / mu: 0.81	wt: ACCACAGAGGCCTCT mu: ACCACAGAGGCTTCT	CACA\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

285

mutated

not conserved

285

Ptroglodytes

all identical

ENSPTRG00000012800

284

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000017426

254

FRV

Drerio

all conserved

ENSDARG00000070272

278

VEQ

Dmelanogaster

all conserved

FBgn0019972

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004145

269

protein features

start (aa)	end (aa)	feature	details
358	358	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	MUTAGEN	C->A: Abolishes proteolytic activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1566 / 1566

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

522 / 522

position of stopcodon in wt / mu cDNA

1750 / 1750

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

853

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

1037

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

25234

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

202072837

original gDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered gDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

original cDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered cDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

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

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 NHRGFCVIVN NHSFTSLKDR
QGTHKDAEIL SHVFQWLGFT VHIHNNVTKV EMEMVLQKQK CNPAHADGDC FVFCILTHGR
FGAVYSSDEA LIPIREIMSH FTALQCPRLA EKPKLFFIQA CQGEEIQPSV SIEADALNPE
QAPTSLQDSI PAEADFLLGL ATVPGYVSFR HVEEGSWYIQ SLCNHLKKLV PRMLKFLEKT
MEIRGRKRTV WGAKQISATS LPTAISAQTP RPPMRRWSSV S*

speed

1.63 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998142 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM990324)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202072837C>TN/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

CDS

DNA changes

c.724C>T
cDNA.845C>T
g.25234C>T

AA changes

L242F Score: 22 explain score(s)

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

242

frameshift

known variant

Reference ID: rs17860403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.004
	-0.504	0
(flanking)	-0.134	0.004

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 increased	25228	wt: 0.73 / mu: 0.81	wt: ACCACAGAGGCCTCT mu: ACCACAGAGGCTTCT	CACA\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

242

mutated

not conserved

242

Ptroglodytes

all identical

ENSPTRG00000012800

253

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000017426

249

FRV

Drerio

all conserved

ENSDARG00000070272

280

Dmelanogaster

all conserved

FBgn0019972

EVP

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004145

264

protein features

start (aa)	end (aa)	feature	details
268	268	CONFLICT	T -> A (in Ref. 3; AAD28403).	might get lost (downstream of altered splice site)
358	358	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	MUTAGEN	C->A: Abolishes proteolytic activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1437 / 1437

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

479 / 479

position of stopcodon in wt / mu cDNA

1558 / 1558

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

724

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

845

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

25234

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

202072837

original gDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered gDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

original cDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered cDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

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

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

speed

1.42 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999124118 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM990324)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202072837C>TN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000360132

Genbank transcript ID

NM_032976

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

CDS

DNA changes

c.761C>T
cDNA.1179C>T
g.25234C>T

AA changes

P254L Score: 98 explain score(s)

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

254

frameshift

known variant

Reference ID: rs17860403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.004
	-0.504	0
(flanking)	-0.134	0.004

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 increased	25228	wt: 0.73 / mu: 0.81	wt: ACCACAGAGGCCTCT mu: ACCACAGAGGCTTCT	CACA\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

254

mutated

not conserved

254

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

all identical

ENSDARG00000070272

Dmelanogaster

no alignment

FBgn0019972

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004145

n/a

protein features

start (aa)	end (aa)	feature	details
268	268	CONFLICT	T -> A (in Ref. 3; AAD28403).	might get lost (downstream of altered splice site)
358	358	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	MUTAGEN	C->A: Abolishes proteolytic activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

822 / 822

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

274 / 274

position of stopcodon in wt / mu cDNA

1240 / 1240

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

419 / 419

chromosome

strand

last intron/exon boundary

1742

theoretical NMD boundary in CDS

1273

length of CDS

822

coding sequence (CDS) position

761

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

1179

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

25234

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

202072837

original gDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered gDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

original cDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered cDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

wildtype AA sequence

mutated AA sequence

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999927891662 (explain)

Summary

known disease mutation at this position (HGMD CM990324)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202072837C>TN/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

intron

DNA changes

g.25234C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs17860403

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.654	0.004
	-0.504	0
(flanking)	-0.134	0.004

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 increased	25228	wt: 0.73 / mu: 0.81	wt: ACCACAGAGGCCTCT mu: ACCACAGAGGCTTCT	CACA\|gagg

distance from splice site

956

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
268	268	CONFLICT	T -> A (in Ref. 3; AAD28403).	might get lost (downstream of altered splice site)
358	358	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	ACT_SITE	By similarity.	might get lost (downstream of altered splice site)
401	401	MUTAGEN	C->A: Abolishes proteolytic activity.	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

125 / 125

chromosome

strand

last intron/exon boundary

1339

theoretical NMD boundary in CDS

1164

length of CDS

1368

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)

25234

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

202072837

original gDNA sequence snippet

TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC

altered gDNA sequence snippet

TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC

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
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

N/A

speed

0.82 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