MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000368474
Querying Taster for transcript #2: ENST00000368471
Querying Taster for transcript #3: ENST00000292205
MT speed 0 s - this script 4.271223 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ADAR	disease_causing_automatic	0.999999999997003	simple_aae		affected	0	L923P	single base exchange	rs28936680		show file
ADAR	disease_causing_automatic	0.999999999997003	simple_aae		affected	0	L628P	single base exchange	rs28936680		show file
ADAR	disease_causing_automatic	0.999999999999844	simple_aae		affected	0	L966P	single base exchange	rs28936680		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999997003 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM032174)
known disease mutation: rs14818 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:154561144A>GN/A show variant in all transcripts IGV

HGNC symbol

ADAR

Ensembl transcript ID

ENST00000368474

Genbank transcript ID

NM_001111

UniProt peptide

P55265

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2768T>C
cDNA.2968T>C
g.39332T>C

AA changes

L923P Score: 98 explain score(s)

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

923

frameshift

known variant

Reference ID: rs28936680
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs14818 (pathogenic for Symmetrical dyschromatosis of extremities) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032174)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032174)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032174)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.251	1
	3.841	1
(flanking)	2.974	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	39333	wt: 0.6358 / mu: 0.6632 (marginal change - not scored)	wt: CTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAATA mu: CTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAATGAAATA	tctc\|TACA
Acc marginally increased	39326	wt: 0.9886 / mu: 0.9904 (marginal change - not scored)	wt: AACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAA mu: AACCAGACTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAA	gtag\|GTTT
Acc increased	39323	wt: 0.43 / mu: 0.48	wt: CCTAACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGT mu: CCTAACCAGACTTTCTTTTTGTAGGTTTCCCTACAGTGAGT	tttg\|TAGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

923

mutated

not conserved

923

Ptroglodytes

all identical

ENSPTRG00000022833

966

Mmulatta

all identical

ENSMMUG00000016093

921

Fcatus

no alignment

ENSFCAG00000001341

n/a

Mmusculus

all identical

ENSMUSG00000027951

872

Ggallus

all identical

ENSGALG00000021475

549

DPC

Trubripes

all identical

ENSTRUG00000008870

971

Drerio

all identical

ENSDARG00000012389

1041

Dmelanogaster

no homologue

Celegans

all identical

T20H4.4

206

Xtropicalis

all conserved

ENSXETG00000003848

797

protein features

start (aa)	end (aa)	feature	details
886	1221	DOMAIN	A to I editase.	lost
966	966	METAL	Zinc (By similarity).	might get lost (downstream of altered splice site)
1036	1036	METAL	Zinc (By similarity).	might get lost (downstream of altered splice site)
1093	1093	CONFLICT	D -> G (in Ref. 5; CAE45853).	might get lost (downstream of altered splice site)
1184	1184	CONFLICT	E -> K (in Ref. 4; CAA55967/CAA55968/ CAA67169/CAA67170).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3681 / 3681

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

1227 / 1227

position of stopcodon in wt / mu cDNA

3881 / 3881

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

201 / 201

chromosome

strand

-1

last intron/exon boundary

3644

theoretical NMD boundary in CDS

3393

length of CDS

3681

coding sequence (CDS) position

2768

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

2968

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

39332

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

154561144

original gDNA sequence snippet

ACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAAT

altered gDNA sequence snippet

ACTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAATGAAAT

original cDNA sequence snippet

GAGAGGCTTCATCAGGTTTCTCTACAGTGAGTTAATGAAAT

altered cDNA sequence snippet

GAGAGGCTTCATCAGGTTTCCCTACAGTGAGTTAATGAAAT

wildtype AA sequence

MNPRQGYSLS GYYTHPFQGY EHRQLRYQQP GPGSSPSSFL LKQIEFLKGQ LPEAPVIGKQ
TPSLPPSLPG LRPRFPVLLA SSTRGRQVDI RGVPRGVHLR SQGLQRGFQH PSPRGRSLPQ
RGVDCLSSHF QELSIYQDQE QRILKFLEEL GEGKATTAHD LSGKLGTPKK EINRVLYSLA
KKGKLQKEAG TPPLWKIAVS TQAWNQHSGV VRPDGHSQGA PNSDPSLEPE DRNSTSVSED
LLEPFIAVSA QAWNQHSGVV RPDSHSQGSP NSDPGLEPED SNSTSALEDP LEFLDMAEIK
EKICDYLFNV SDSSALNLAK NIGLTKARDI NAVLIDMERQ GDVYRQGTTP PIWHLTDKKR
ERMQIKRNTN SVPETAPAAI PETKRNAEFL TCNIPTSNAS NNMVTTEKVE NGQEPVIKLE
NRQEARPEPA RLKPPVHYNG PSKAGYVDFE NGQWATDDIP DDLNSIRAAP GEFRAIMEMP
SFYSHGLPRC SPYKKLTECQ LKNPISGLLE YAQFASQTCE FNMIEQSGPP HEPRFKFQVV
INGREFPPAE AGSKKVAKQD AAMKAMTILL EEAKAKDSGK SEESSHYSTE KESEKTAESQ
TPTPSATSFF SGKSPVTTLL ECMHKLGNSC EFRLLSKEGP AHEPKFQYCV AVGAQTFPSV
SAPSKKVAKQ MAAEEAMKAL HGEATNSMAS DNQPEGMISE SLDNLESMMP NKVRKIGELV
RYLNTNPVGG LLEYARSHGF AAEFKLVDQS GPPHEPKFVY QAKVGGRWFP AVCAHSKKQG
KQEAADAALR VLIGENEKAE RMGFTEVTPV TGASLRRTML LLSRSPEAQP KTLPLTGSTF
HDQIAMLSHR CFNTLTNSFQ PSLLGRKILA AIIMKKDSED MGVVVSLGTG NRCVKGDSLS
LKGETVNDCH AEIISRRGFI RFLYSELMKY NSQTAKDSIF EPAKGGEKLQ IKKTVSFHLY
ISTAPCGDGA LFDKSCSDRA MESTESRHYP VFENPKQGKL RTKVENGEGT IPVESSDIVP
TWDGIRLGER LRTMSCSDKI LRWNVLGLQG ALLTHFLQPI YLKSVTLGYL FSQGHLTRAI
CCRVTRDGSA FEDGLRHPFI VNHPKVGRVS IYDSKRQSGK TKETSVNWCL ADGYDLEILD
GTRGTVDGPR NELSRVSKKN IFLLFKKLCS FRYRRDLLRL SYGEAKKAAR DYETAKNYFK
KGLKDMGYGN WISKPQEEKN FYLCPV*

mutated AA sequence

MNPRQGYSLS GYYTHPFQGY EHRQLRYQQP GPGSSPSSFL LKQIEFLKGQ LPEAPVIGKQ
TPSLPPSLPG LRPRFPVLLA SSTRGRQVDI RGVPRGVHLR SQGLQRGFQH PSPRGRSLPQ
RGVDCLSSHF QELSIYQDQE QRILKFLEEL GEGKATTAHD LSGKLGTPKK EINRVLYSLA
KKGKLQKEAG TPPLWKIAVS TQAWNQHSGV VRPDGHSQGA PNSDPSLEPE DRNSTSVSED
LLEPFIAVSA QAWNQHSGVV RPDSHSQGSP NSDPGLEPED SNSTSALEDP LEFLDMAEIK
EKICDYLFNV SDSSALNLAK NIGLTKARDI NAVLIDMERQ GDVYRQGTTP PIWHLTDKKR
ERMQIKRNTN SVPETAPAAI PETKRNAEFL TCNIPTSNAS NNMVTTEKVE NGQEPVIKLE
NRQEARPEPA RLKPPVHYNG PSKAGYVDFE NGQWATDDIP DDLNSIRAAP GEFRAIMEMP
SFYSHGLPRC SPYKKLTECQ LKNPISGLLE YAQFASQTCE FNMIEQSGPP HEPRFKFQVV
INGREFPPAE AGSKKVAKQD AAMKAMTILL EEAKAKDSGK SEESSHYSTE KESEKTAESQ
TPTPSATSFF SGKSPVTTLL ECMHKLGNSC EFRLLSKEGP AHEPKFQYCV AVGAQTFPSV
SAPSKKVAKQ MAAEEAMKAL HGEATNSMAS DNQPEGMISE SLDNLESMMP NKVRKIGELV
RYLNTNPVGG LLEYARSHGF AAEFKLVDQS GPPHEPKFVY QAKVGGRWFP AVCAHSKKQG
KQEAADAALR VLIGENEKAE RMGFTEVTPV TGASLRRTML LLSRSPEAQP KTLPLTGSTF
HDQIAMLSHR CFNTLTNSFQ PSLLGRKILA AIIMKKDSED MGVVVSLGTG NRCVKGDSLS
LKGETVNDCH AEIISRRGFI RFPYSELMKY NSQTAKDSIF EPAKGGEKLQ IKKTVSFHLY
ISTAPCGDGA LFDKSCSDRA MESTESRHYP VFENPKQGKL RTKVENGEGT IPVESSDIVP
TWDGIRLGER LRTMSCSDKI LRWNVLGLQG ALLTHFLQPI YLKSVTLGYL FSQGHLTRAI
CCRVTRDGSA FEDGLRHPFI VNHPKVGRVS IYDSKRQSGK TKETSVNWCL ADGYDLEILD
GTRGTVDGPR NELSRVSKKN IFLLFKKLCS FRYRRDLLRL SYGEAKKAAR DYETAKNYFK
KGLKDMGYGN WISKPQEEKN FYLCPV*

speed

1.15 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

disease causing

Model: simple_aae, prob: 0.999999999997003 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM032174)
known disease mutation: rs14818 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:154561144A>GN/A show variant in all transcripts IGV

HGNC symbol

ADAR

Ensembl transcript ID

ENST00000368471

Genbank transcript ID

NM_001025107

UniProt peptide

P55265

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1883T>C
cDNA.2863T>C
g.39332T>C

AA changes

L628P Score: 98 explain score(s)

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

628

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.251	1
	3.841	1
(flanking)	2.974	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	39333	wt: 0.6358 / mu: 0.6632 (marginal change - not scored)	wt: CTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAATA mu: CTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAATGAAATA	tctc\|TACA
Acc marginally increased	39326	wt: 0.9886 / mu: 0.9904 (marginal change - not scored)	wt: AACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAA mu: AACCAGACTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAA	gtag\|GTTT
Acc increased	39323	wt: 0.43 / mu: 0.48	wt: CCTAACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGT mu: CCTAACCAGACTTTCTTTTTGTAGGTTTCCCTACAGTGAGT	tttg\|TAGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

628

mutated

not conserved

628

Ptroglodytes

all identical

ENSPTRG00000022833

966

Mmulatta

all identical

ENSMMUG00000016093

921

Fcatus

no alignment

ENSFCAG00000001341

n/a

Mmusculus

all identical

ENSMUSG00000027951

872

Ggallus

all identical

ENSGALG00000021475

549

DPC

Trubripes

all identical

ENSTRUG00000008870

972

Drerio

all identical

ENSDARG00000012389

1041

Dmelanogaster

no homologue

Celegans

all identical

T20H4.4

206

Xtropicalis

all conserved

ENSXETG00000003848

797

protein features

start (aa)	end (aa)	feature	details
614	682	DOMAIN	DRBM 2.	lost
726	794	DOMAIN	DRBM 3.	might get lost (downstream of altered splice site)
808	808	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
818	818	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
823	823	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
825	825	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
873	873	CONFLICT	I -> V (in Ref. 5; CAE45853).	might get lost (downstream of altered splice site)
886	1221	DOMAIN	A to I editase.	might get lost (downstream of altered splice site)
910	910	METAL	Zinc (By similarity).	might get lost (downstream of altered splice site)
912	912	ACT_SITE	Proton donor (By similarity).	might get lost (downstream of altered splice site)
966	966	METAL	Zinc (By similarity).	might get lost (downstream of altered splice site)
1036	1036	METAL	Zinc (By similarity).	might get lost (downstream of altered splice site)
1093	1093	CONFLICT	D -> G (in Ref. 5; CAE45853).	might get lost (downstream of altered splice site)
1184	1184	CONFLICT	E -> K (in Ref. 4; CAA55967/CAA55968/ CAA67169/CAA67170).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2796 / 2796

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

932 / 932

position of stopcodon in wt / mu cDNA

3776 / 3776

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

981 / 981

chromosome

strand

-1

last intron/exon boundary

3539

theoretical NMD boundary in CDS

2508

length of CDS

2796

coding sequence (CDS) position

1883

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

2863

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

39332

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

154561144

original gDNA sequence snippet

ACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAAT

altered gDNA sequence snippet

ACTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAATGAAAT

original cDNA sequence snippet

GAGAGGCTTCATCAGGTTTCTCTACAGTGAGTTAATGAAAT

altered cDNA sequence snippet

GAGAGGCTTCATCAGGTTTCCCTACAGTGAGTTAATGAAAT

wildtype AA sequence

MAEIKEKICD YLFNVSDSSA LNLAKNIGLT KARDINAVLI DMERQGDVYR QGTTPPIWHL
TDKKRERMQI KRNTNSVPET APAAIPETKR NAEFLTCNIP TSNASNNMVT TEKVENGQEP
VIKLENRQEA RPEPARLKPP VHYNGPSKAG YVDFENGQWA TDDIPDDLNS IRAAPGEFRA
IMEMPSFYSH GLPRCSPYKK LTECQLKNPI SGLLEYAQFA SQTCEFNMIE QSGPPHEPRF
KFQVVINGRE FPPAEAGSKK VAKQDAAMKA MTILLEEAKA KDSGKSEESS HYSTEKESEK
TAESQTPTPS ATSFFSGKSP VTTLLECMHK LGNSCEFRLL SKEGPAHEPK FQYCVAVGAQ
TFPSVSAPSK KVAKQMAAEE AMKALHGEAT NSMASDNQPE GMISESLDNL ESMMPNKVRK
IGELVRYLNT NPVGGLLEYA RSHGFAAEFK LVDQSGPPHE PKFVYQAKVG GRWFPAVCAH
SKKQGKQEAA DAALRVLIGE NEKAERMGFT EVTPVTGASL RRTMLLLSRS PEAQPKTLPL
TGSTFHDQIA MLSHRCFNTL TNSFQPSLLG RKILAAIIMK KDSEDMGVVV SLGTGNRCVK
GDSLSLKGET VNDCHAEIIS RRGFIRFLYS ELMKYNSQTA KDSIFEPAKG GEKLQIKKTV
SFHLYISTAP CGDGALFDKS CSDRAMESTE SRHYPVFENP KQGKLRTKVE NGEGTIPVES
SDIVPTWDGI RLGERLRTMS CSDKILRWNV LGLQGALLTH FLQPIYLKSV TLGYLFSQGH
LTRAICCRVT RDGSAFEDGL RHPFIVNHPK VGRVSIYDSK RQSGKTKETS VNWCLADGYD
LEILDGTRGT VDGPRNELSR VSKKNIFLLF KKLCSFRYRR DLLRLSYGEA KKAARDYETA
KNYFKKGLKD MGYGNWISKP QEEKNFYLCP V*

mutated AA sequence

MAEIKEKICD YLFNVSDSSA LNLAKNIGLT KARDINAVLI DMERQGDVYR QGTTPPIWHL
TDKKRERMQI KRNTNSVPET APAAIPETKR NAEFLTCNIP TSNASNNMVT TEKVENGQEP
VIKLENRQEA RPEPARLKPP VHYNGPSKAG YVDFENGQWA TDDIPDDLNS IRAAPGEFRA
IMEMPSFYSH GLPRCSPYKK LTECQLKNPI SGLLEYAQFA SQTCEFNMIE QSGPPHEPRF
KFQVVINGRE FPPAEAGSKK VAKQDAAMKA MTILLEEAKA KDSGKSEESS HYSTEKESEK
TAESQTPTPS ATSFFSGKSP VTTLLECMHK LGNSCEFRLL SKEGPAHEPK FQYCVAVGAQ
TFPSVSAPSK KVAKQMAAEE AMKALHGEAT NSMASDNQPE GMISESLDNL ESMMPNKVRK
IGELVRYLNT NPVGGLLEYA RSHGFAAEFK LVDQSGPPHE PKFVYQAKVG GRWFPAVCAH
SKKQGKQEAA DAALRVLIGE NEKAERMGFT EVTPVTGASL RRTMLLLSRS PEAQPKTLPL
TGSTFHDQIA MLSHRCFNTL TNSFQPSLLG RKILAAIIMK KDSEDMGVVV SLGTGNRCVK
GDSLSLKGET VNDCHAEIIS RRGFIRFPYS ELMKYNSQTA KDSIFEPAKG GEKLQIKKTV
SFHLYISTAP CGDGALFDKS CSDRAMESTE SRHYPVFENP KQGKLRTKVE NGEGTIPVES
SDIVPTWDGI RLGERLRTMS CSDKILRWNV LGLQGALLTH FLQPIYLKSV TLGYLFSQGH
LTRAICCRVT RDGSAFEDGL RHPFIVNHPK VGRVSIYDSK RQSGKTKETS VNWCLADGYD
LEILDGTRGT VDGPRNELSR VSKKNIFLLF KKLCSFRYRR DLLRLSYGEA KKAARDYETA
KNYFKKGLKD MGYGNWISKP QEEKNFYLCP V*

speed

0.89 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999844 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM032174)
known disease mutation: rs14818 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:154561144A>GN/A show variant in all transcripts IGV

HGNC symbol

ADAR

Ensembl transcript ID

ENST00000292205

Genbank transcript ID

N/A

UniProt peptide

P55265

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2897T>C
cDNA.2897T>C
g.39332T>C

AA changes

L966P Score: 98 explain score(s)

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

966

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.251	1
	3.841	1
(flanking)	2.974	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	39333	wt: 0.6358 / mu: 0.6632 (marginal change - not scored)	wt: CTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAATA mu: CTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAATGAAATA	tctc\|TACA
Acc marginally increased	39326	wt: 0.9886 / mu: 0.9904 (marginal change - not scored)	wt: AACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAA mu: AACCAGACTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAA	gtag\|GTTT
Acc increased	39323	wt: 0.43 / mu: 0.48	wt: CCTAACCAGACTTTCTTTTTGTAGGTTTCTCTACAGTGAGT mu: CCTAACCAGACTTTCTTTTTGTAGGTTTCCCTACAGTGAGT	tttg\|TAGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

966

mutated

not conserved

966

Ptroglodytes

all identical

ENSPTRG00000022833

966

Mmulatta

all identical

ENSMMUG00000016093

921

Fcatus

no alignment

ENSFCAG00000001341

n/a

Mmusculus

all identical

ENSMUSG00000027951

872

Ggallus

all identical

ENSGALG00000021475

549

DPC

Trubripes

all identical

ENSTRUG00000008870

971

Drerio

all identical

ENSDARG00000012389

1041

Dmelanogaster

no homologue

Celegans

all identical

T20H4.4

206

Xtropicalis

all conserved

ENSXETG00000003848

797

protein features

start (aa)	end (aa)	feature	details
886	1221	DOMAIN	A to I editase.	lost
966	966	METAL	Zinc (By similarity).	lost
1036	1036	METAL	Zinc (By similarity).	might get lost (downstream of altered splice site)
1093	1093	CONFLICT	D -> G (in Ref. 5; CAE45853).	might get lost (downstream of altered splice site)
1184	1184	CONFLICT	E -> K (in Ref. 4; CAA55967/CAA55968/ CAA67169/CAA67170).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3810 / 3810

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

1270 / 1270

position of stopcodon in wt / mu cDNA

3810 / 3810

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

3573

theoretical NMD boundary in CDS

3522

length of CDS

3810

coding sequence (CDS) position

2897

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

2897

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

39332

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

154561144

original gDNA sequence snippet

ACTTTCTTTTTGTAGGTTTCTCTACAGTGAGTTAATGAAAT

altered gDNA sequence snippet

ACTTTCTTTTTGTAGGTTTCCCTACAGTGAGTTAATGAAAT

original cDNA sequence snippet

GAGAGGCTTCATCAGGTTTCTCTACAGTGAGTTAATGAAAT

altered cDNA sequence snippet

GAGAGGCTTCATCAGGTTTCCCTACAGTGAGTTAATGAAAT

wildtype AA sequence

MMSPICDQTI DSRLKVEKAT WWGRVGGGSR PHWQSPGVRP CPEEVQDPGY SLSGYYTHPF
QGYEHRQLRY QQPGPGSSPS SFLLKQIEFL KGQLPEAPVI GKQTPSLPPS LPGLRPRFPV
LLASSTRGRQ VDIRGVPRGV HLRSQGLQRG FQHPSPRGRS LPQRGVDCLS SHFQELSIYQ
DQEQRILKFL EELGEGKATT AHDLSGKLGT PKKEINRVLY SLAKKGKLQK EAGTPPLWKI
AVSTQAWNQH SGVVRPDGHS QGAPNSDPSL EPEDRNSTSV SEDLLEPFIA VSAQAWNQHS
GVVRPDSHSQ GSPNSDPGLE PEDSNSTSAL EDPLEFLDMA EIKEKICDYL FNVSDSSALN
LAKNIGLTKA RDINAVLIDM ERQGDVYRQG TTPPIWHLTD KKRERMQIKR NTNSVPETAP
AAIPETKRNA EFLTCNIPTS NASNNMVTTE KVENGQEPVI KLENRQEARP EPARLKPPVH
YNGPSKAGYV DFENGQWATD DIPDDLNSIR AAPGEFRAIM EMPSFYSHGL PRCSPYKKLT
ECQLKNPISG LLEYAQFASQ TCEFNMIEQS GPPHEPRFKF QVVINGREFP PAEAGSKKVA
KQDAAMKAMT ILLEEAKAKD SGKSEESSHY STEKESEKTA ESQTPTPSAT SFFSGKSPVT
TLLECMHKLG NSCEFRLLSK EGPAHEPKFQ YCVAVGAQTF PSVSAPSKKV AKQMAAEEAM
KALHGEATNS MASDNQPEGM ISESLDNLES MMPNKVRKIG ELVRYLNTNP VGGLLEYARS
HGFAAEFKLV DQSGPPHEPK FVYQAKVGGR WFPAVCAHSK KQGKQEAADA ALRVLIGENE
KAERMGFTEV TPVTGASLRR TMLLLSRSPE AQPKTLPLTG STFHDQIAML SHRCFNTLTN
SFQPSLLGRK ILAAIIMKKD SEDMGVVVSL GTGNRCVKGD SLSLKGETVN DCHAEIISRR
GFIRFLYSEL MKYNSQTAKD SIFEPAKGGE KLQIKKTVSF HLYISTAPCG DGALFDKSCS
DRAMESTESR HYPVFENPKQ GKLRTKVENG EGTIPVESSD IVPTWDGIRL GERLRTMSCS
DKILRWNVLG LQGALLTHFL QPIYLKSVTL GYLFSQGHLT RAICCRVTRD GSAFEDGLRH
PFIVNHPKVG RVSIYDSKRQ SGKTKETSVN WCLADGYDLE ILDGTRGTVD GPRNELSRVS
KKNIFLLFKK LCSFRYRRDL LRLSYGEAKK AARDYETAKN YFKKGLKDMG YGNWISKPQE
EKNFYLCPV*

mutated AA sequence

MMSPICDQTI DSRLKVEKAT WWGRVGGGSR PHWQSPGVRP CPEEVQDPGY SLSGYYTHPF
QGYEHRQLRY QQPGPGSSPS SFLLKQIEFL KGQLPEAPVI GKQTPSLPPS LPGLRPRFPV
LLASSTRGRQ VDIRGVPRGV HLRSQGLQRG FQHPSPRGRS LPQRGVDCLS SHFQELSIYQ
DQEQRILKFL EELGEGKATT AHDLSGKLGT PKKEINRVLY SLAKKGKLQK EAGTPPLWKI
AVSTQAWNQH SGVVRPDGHS QGAPNSDPSL EPEDRNSTSV SEDLLEPFIA VSAQAWNQHS
GVVRPDSHSQ GSPNSDPGLE PEDSNSTSAL EDPLEFLDMA EIKEKICDYL FNVSDSSALN
LAKNIGLTKA RDINAVLIDM ERQGDVYRQG TTPPIWHLTD KKRERMQIKR NTNSVPETAP
AAIPETKRNA EFLTCNIPTS NASNNMVTTE KVENGQEPVI KLENRQEARP EPARLKPPVH
YNGPSKAGYV DFENGQWATD DIPDDLNSIR AAPGEFRAIM EMPSFYSHGL PRCSPYKKLT
ECQLKNPISG LLEYAQFASQ TCEFNMIEQS GPPHEPRFKF QVVINGREFP PAEAGSKKVA
KQDAAMKAMT ILLEEAKAKD SGKSEESSHY STEKESEKTA ESQTPTPSAT SFFSGKSPVT
TLLECMHKLG NSCEFRLLSK EGPAHEPKFQ YCVAVGAQTF PSVSAPSKKV AKQMAAEEAM
KALHGEATNS MASDNQPEGM ISESLDNLES MMPNKVRKIG ELVRYLNTNP VGGLLEYARS
HGFAAEFKLV DQSGPPHEPK FVYQAKVGGR WFPAVCAHSK KQGKQEAADA ALRVLIGENE
KAERMGFTEV TPVTGASLRR TMLLLSRSPE AQPKTLPLTG STFHDQIAML SHRCFNTLTN
SFQPSLLGRK ILAAIIMKKD SEDMGVVVSL GTGNRCVKGD SLSLKGETVN DCHAEIISRR
GFIRFPYSEL MKYNSQTAKD SIFEPAKGGE KLQIKKTVSF HLYISTAPCG DGALFDKSCS
DRAMESTESR HYPVFENPKQ GKLRTKVENG EGTIPVESSD IVPTWDGIRL GERLRTMSCS
DKILRWNVLG LQGALLTHFL QPIYLKSVTL GYLFSQGHLT RAICCRVTRD GSAFEDGLRH
PFIVNHPKVG RVSIYDSKRQ SGKTKETSVN WCLADGYDLE ILDGTRGTVD GPRNELSRVS
KKNIFLLFKK LCSFRYRRDL LRLSYGEAKK AARDYETAKN YFKKGLKDMG YGNWISKPQE
EKNFYLCPV*

speed

1.06 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems