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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000371929
Querying Taster for transcript #2: ENST00000355699
Querying Taster for transcript #3: ENST00000356589
Querying Taster for transcript #4: ENST00000371916
MT speed 3.18 s - this script 4.392441 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ADAMTS13	disease_causing_automatic	0.998337258694881	simple_aae		affected	0	C1024G	single base exchange	rs121908472		show file
ADAMTS13	disease_causing_automatic	0.998337258694881	simple_aae		affected	0	C1024G	single base exchange	rs121908472		show file
ADAMTS13	disease_causing_automatic	0.998337258694881	simple_aae		affected	0	C993G	single base exchange	rs121908472		show file
ADAMTS13	disease_causing_automatic	1	without_aae		affected	0		single base exchange	rs121908472		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.998337258694881 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012893)
known disease mutation at this position (HGMD CM1110271)
known disease mutation: rs5803 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136319562T>GN/A show variant in all transcripts IGV

HGNC symbol

ADAMTS13

Ensembl transcript ID

ENST00000371929

Genbank transcript ID

NM_139025

UniProt peptide

Q76LX8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3070T>G
cDNA.3514T>G
g.40085T>G

AA changes

C1024G Score: 159 explain score(s)

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

1024

frameshift

known variant

Reference ID: rs121908472

database	homozygous (G/G)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	10	10

known disease mutation: rs5803 (pathogenic for Upshaw-Schulman syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012893)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012893)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1110271)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012893)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1110271)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012893)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012893)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1110271)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012893)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1110271)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.457	0.006
	2.973	0.974
(flanking)	3.543	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 gained	40084	0.33	mu: AAAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCT	ccca\|GGTT
Donor gained	40084	0.52	mu: GGCCCAGGTTCGGCC	CCCA\|ggtt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1024

mutated

not conserved

1024

Ptroglodytes

all identical

ENSPTRG00000022942

982

Mmulatta

all identical

ENSMMUG00000000937

1020

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000014852

1030

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076270

1028

Dmelanogaster

no alignment

FBgn0086408

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1012	1068	DOMAIN	TSP type-1 7.	lost
1072	1131	DOMAIN	TSP type-1 8.	might get lost (downstream of altered splice site)
1192	1298	DOMAIN	CUB 1.	might get lost (downstream of altered splice site)
1235	1235	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1299	1427	DOMAIN	CUB 2.	might get lost (downstream of altered splice site)
1354	1354	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4284 / 4284

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

1428 / 1428

position of stopcodon in wt / mu cDNA

4728 / 4728

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

445 / 445

chromosome

strand

last intron/exon boundary

4522

theoretical NMD boundary in CDS

4027

length of CDS

4284

coding sequence (CDS) position

3070

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

3514

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

40085

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

136319562

original gDNA sequence snippet

AAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTT

altered gDNA sequence snippet

AAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTT

original cDNA sequence snippet

AAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTT

altered cDNA sequence snippet

AAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTT

wildtype AA sequence

MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC
GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG
RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD
ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ
VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR
YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE
TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL
PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA
PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA
ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS
LGPCSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT
WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGTPSLVP
HEEAAAPGRT TATPAGASLE WSQARGLLFS PAPQPRRLLP GPQENSVQSS ACGRQHLEPT
GTIDMRGPGQ ADCAVAIGRP LGEVVTLRVL ESSLNCSAGD MLLLWGRLTW RKMCRKLLDM
TFSSKTNTLV VRQRCGRPGG GVLLRYGSQL APETFYRECD MQLFGPWGEI VSPSLSPATS
NAGGCRLFIN VAPHARIAIH ALATNMGAGT EGANASYILI RDTHSLRTTA FHGQQVLYWE
SESSQAEMEF SEGFLKAQAS LRGQYWTLQS WVPEMQDPQS WKGKEGT*

mutated AA sequence

MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC
GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG
RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD
ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ
VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR
YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE
TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL
PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA
PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA
ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS
LGPGSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT
WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGTPSLVP
HEEAAAPGRT TATPAGASLE WSQARGLLFS PAPQPRRLLP GPQENSVQSS ACGRQHLEPT
GTIDMRGPGQ ADCAVAIGRP LGEVVTLRVL ESSLNCSAGD MLLLWGRLTW RKMCRKLLDM
TFSSKTNTLV VRQRCGRPGG GVLLRYGSQL APETFYRECD MQLFGPWGEI VSPSLSPATS
NAGGCRLFIN VAPHARIAIH ALATNMGAGT EGANASYILI RDTHSLRTTA FHGQQVLYWE
SESSQAEMEF SEGFLKAQAS LRGQYWTLQS WVPEMQDPQS WKGKEGT*

speed

0.78 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: 0.998337258694881 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012893)
known disease mutation at this position (HGMD CM1110271)
known disease mutation: rs5803 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136319562T>GN/A show variant in all transcripts IGV

HGNC symbol

ADAMTS13

Ensembl transcript ID

ENST00000355699

Genbank transcript ID

NM_139027

UniProt peptide

Q76LX8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3070T>G
cDNA.3190T>G
g.40085T>G

AA changes

C1024G Score: 159 explain score(s)

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

1024

frameshift

known variant

Reference ID: rs121908472

database	homozygous (G/G)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	10	10

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.457	0.006
	2.973	0.974
(flanking)	3.543	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 gained	40084	0.33	mu: AAAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCT	ccca\|GGTT
Donor gained	40084	0.52	mu: GGCCCAGGTTCGGCC	CCCA\|ggtt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1024

mutated

not conserved

1024

Ptroglodytes

all identical

ENSPTRG00000022942

982

Mmulatta

all identical

ENSMMUG00000000937

1020

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000014852

1030

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076270

1028

Dmelanogaster

no alignment

FBgn0086408

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1012	1068	DOMAIN	TSP type-1 7.	lost
1072	1131	DOMAIN	TSP type-1 8.	might get lost (downstream of altered splice site)
1192	1298	DOMAIN	CUB 1.	might get lost (downstream of altered splice site)
1235	1235	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1299	1427	DOMAIN	CUB 2.	might get lost (downstream of altered splice site)
1354	1354	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4116 / 4116

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

1372 / 1372

position of stopcodon in wt / mu cDNA

4236 / 4236

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

121 / 121

chromosome

strand

last intron/exon boundary

4030

theoretical NMD boundary in CDS

3859

length of CDS

4116

coding sequence (CDS) position

3070

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

3190

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

40085

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

136319562

original gDNA sequence snippet

AAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTT

altered gDNA sequence snippet

AAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTT

original cDNA sequence snippet

AAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTT

altered cDNA sequence snippet

AAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTT

wildtype AA sequence

MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC
GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG
RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD
ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ
VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR
YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE
TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL
PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA
PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA
ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS
LGPCSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT
WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGACGRQH
LEPTGTIDMR GPGQADCAVA IGRPLGEVVT LRVLESSLNC SAGDMLLLWG RLTWRKMCRK
LLDMTFSSKT NTLVVRQRCG RPGGGVLLRY GSQLAPETFY RECDMQLFGP WGEIVSPSLS
PATSNAGGCR LFINVAPHAR IAIHALATNM GAGTEGANAS YILIRDTHSL RTTAFHGQQV
LYWESESSQA EMEFSEGFLK AQASLRGQYW TLQSWVPEMQ DPQSWKGKEG T*

mutated AA sequence

MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC
GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG
RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD
ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ
VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR
YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE
TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL
PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA
PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA
ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS
LGPGSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT
WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGACGRQH
LEPTGTIDMR GPGQADCAVA IGRPLGEVVT LRVLESSLNC SAGDMLLLWG RLTWRKMCRK
LLDMTFSSKT NTLVVRQRCG RPGGGVLLRY GSQLAPETFY RECDMQLFGP WGEIVSPSLS
PATSNAGGCR LFINVAPHAR IAIHALATNM GAGTEGANAS YILIRDTHSL RTTAFHGQQV
LYWESESSQA EMEFSEGFLK AQASLRGQYW TLQSWVPEMQ DPQSWKGKEG T*

speed

0.88 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.998337258694881 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM012893)
known disease mutation at this position (HGMD CM1110271)
known disease mutation: rs5803 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136319562T>GN/A show variant in all transcripts IGV

HGNC symbol

ADAMTS13

Ensembl transcript ID

ENST00000356589

Genbank transcript ID

NM_139026

UniProt peptide

Q76LX8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2977T>G
cDNA.3097T>G
g.40085T>G

AA changes

C993G Score: 159 explain score(s)

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

993

frameshift

known variant

Reference ID: rs121908472

database	homozygous (G/G)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	10	10

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.457	0.006
	2.973	0.974
(flanking)	3.543	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 gained	40084	0.33	mu: AAAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCT	ccca\|GGTT
Donor gained	40084	0.52	mu: GGCCCAGGTTCGGCC	CCCA\|ggtt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

993

mutated

not conserved

993

Ptroglodytes

all identical

ENSPTRG00000022942

982

Mmulatta

all identical

ENSMMUG00000000937

1020

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000014852

1030

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076270

1027

Dmelanogaster

no alignment

FBgn0086408

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
951	1011	DOMAIN	TSP type-1 6.	lost
1012	1068	DOMAIN	TSP type-1 7.	might get lost (downstream of altered splice site)
1072	1131	DOMAIN	TSP type-1 8.	might get lost (downstream of altered splice site)
1192	1298	DOMAIN	CUB 1.	might get lost (downstream of altered splice site)
1235	1235	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1299	1427	DOMAIN	CUB 2.	might get lost (downstream of altered splice site)
1354	1354	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4023 / 4023

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

1341 / 1341

position of stopcodon in wt / mu cDNA

4143 / 4143

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

121 / 121

chromosome

strand

last intron/exon boundary

3937

theoretical NMD boundary in CDS

3766

length of CDS

4023

coding sequence (CDS) position

2977

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

3097

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

40085

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

136319562

original gDNA sequence snippet

AAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTT

altered gDNA sequence snippet

AAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTT

original cDNA sequence snippet

AAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTT

altered cDNA sequence snippet

AAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTT

wildtype AA sequence

MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSANEQC RVAFGPKAVA CTFAREHLDM
CQALSCHTDP LDQSSCSRLL VPLLDGTECG VEKWCSKGRC RSLVELTPIA AVHGRWSSWG
PRSPCSRSCG GGVVTRRRQC NNPRPAFGGR ACVGADLQAE MCNTQACEKT QLEFMSQQCA
RTDGQPLRSS PGGASFYHWG AAVPHSQGDA LCRHMCRAIG ESFIMKRGDS FLDGTRCMPS
GPREDGTLSL CVSGSCRTFG CDGRMDSQQV WDRCQVCGGD NSTCSPRKGS FTAGRAREYV
TFLTVTPNLT SVYIANHRPL FTHLAVRIGG RYVVAGKMSI SPNTTYPSLL EDGRVEYRVA
LTEDRLPRLE EIRIWGPLQE DADIQVYRRY GEEYGNLTRP DITFTYFQPK PRQAWVWAAV
RGPCSVSCGA GLRWVNYSCL DQARKELVET VQCQGSQQPP AWPEACVLEP CPPYWAVGDF
GPCSASCGGG LRERPVRCVE AQGSLLKTLP PARCRAGAQQ PAVALETCNP QPCPARWEVS
EPSSCTSAGG AGLALENETC VPGADGLEAP VTEGPGSVDE KLPAPEPCVG MSCPPGWGHL
DATSAGEKAP SPWGSIRTGA QAAHVWTPAA GSCSVSCGRG LMELRFLCMD SALRVPVQEE
LCGLASKPGS RREVCQAVPC PARWQYKLAA CSVSCGRGVV RRILYCARAH GEDDGEEILL
DTQCQGLPRP EPQEACSLEP CPPRWKVMSL GPCSASCGLG TARRSVACVQ LDQGQDVEVD
EAACAALVRP EASVPCLIAD CTYRWHVGTW MECSVSCGDG IQRRRDTCLG PQAQAPVPAD
FCQHLPKPVT VRGCWAGPCV GQGACGRQHL EPTGTIDMRG PGQADCAVAI GRPLGEVVTL
RVLESSLNCS AGDMLLLWGR LTWRKMCRKL LDMTFSSKTN TLVVRQRCGR PGGGVLLRYG
SQLAPETFYR ECDMQLFGPW GEIVSPSLSP ATSNAGGCRL FINVAPHARI AIHALATNMG
AGTEGANASY ILIRDTHSLR TTAFHGQQVL YWESESSQAE MEFSEGFLKA QASLRGQYWT
LQSWVPEMQD PQSWKGKEGT *

mutated AA sequence

MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSANEQC RVAFGPKAVA CTFAREHLDM
CQALSCHTDP LDQSSCSRLL VPLLDGTECG VEKWCSKGRC RSLVELTPIA AVHGRWSSWG
PRSPCSRSCG GGVVTRRRQC NNPRPAFGGR ACVGADLQAE MCNTQACEKT QLEFMSQQCA
RTDGQPLRSS PGGASFYHWG AAVPHSQGDA LCRHMCRAIG ESFIMKRGDS FLDGTRCMPS
GPREDGTLSL CVSGSCRTFG CDGRMDSQQV WDRCQVCGGD NSTCSPRKGS FTAGRAREYV
TFLTVTPNLT SVYIANHRPL FTHLAVRIGG RYVVAGKMSI SPNTTYPSLL EDGRVEYRVA
LTEDRLPRLE EIRIWGPLQE DADIQVYRRY GEEYGNLTRP DITFTYFQPK PRQAWVWAAV
RGPCSVSCGA GLRWVNYSCL DQARKELVET VQCQGSQQPP AWPEACVLEP CPPYWAVGDF
GPCSASCGGG LRERPVRCVE AQGSLLKTLP PARCRAGAQQ PAVALETCNP QPCPARWEVS
EPSSCTSAGG AGLALENETC VPGADGLEAP VTEGPGSVDE KLPAPEPCVG MSCPPGWGHL
DATSAGEKAP SPWGSIRTGA QAAHVWTPAA GSCSVSCGRG LMELRFLCMD SALRVPVQEE
LCGLASKPGS RREVCQAVPC PARWQYKLAA CSVSCGRGVV RRILYCARAH GEDDGEEILL
DTQCQGLPRP EPQEACSLEP CPPRWKVMSL GPGSASCGLG TARRSVACVQ LDQGQDVEVD
EAACAALVRP EASVPCLIAD CTYRWHVGTW MECSVSCGDG IQRRRDTCLG PQAQAPVPAD
FCQHLPKPVT VRGCWAGPCV GQGACGRQHL EPTGTIDMRG PGQADCAVAI GRPLGEVVTL
RVLESSLNCS AGDMLLLWGR LTWRKMCRKL LDMTFSSKTN TLVVRQRCGR PGGGVLLRYG
SQLAPETFYR ECDMQLFGPW GEIVSPSLSP ATSNAGGCRL FINVAPHARI AIHALATNMG
AGTEGANASY ILIRDTHSLR TTAFHGQQVL YWESESSQAE MEFSEGFLKA QASLRGQYWT
LQSWVPEMQD PQSWKGKEGT *

speed

0.77 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM012893)
known disease mutation at this position (HGMD CM1110271)
known disease mutation: rs5803 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136319562T>GN/A show variant in all transcripts IGV

HGNC symbol

ADAMTS13

Ensembl transcript ID

ENST00000371916

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.3213T>G
g.40085T>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121908472

database	homozygous (G/G)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	10	10

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.457	0.006
	2.973	0.974
(flanking)	3.543	1

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

splice sites

splice site change occurs after stopcodon (at aa 922)

effect	gDNA position	score	detection sequence	exon-intron border
Acc gained	40084	0.33	mu: AAAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCT	ccca\|GGTT
Donor gained	40084	0.52	mu: GGCCCAGGTTCGGCC	CCCA\|ggtt

distance from splice site

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

445 / 445

chromosome

strand

last intron/exon boundary

4221

theoretical NMD boundary in CDS

3726

length of CDS

831

coding sequence (CDS) position

N/A

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

3213

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

40085

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

136319562

original gDNA sequence snippet

AAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTT

altered gDNA sequence snippet

AAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTT

original cDNA sequence snippet

AAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTT

altered cDNA sequence snippet

AAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTT

wildtype AA sequence

mutated AA sequence

N/A

speed

0.75 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

mutation t@sting

Prediction

disease causing

Problems