mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.0119471547589909 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM021931)
known disease mutation: rs5812 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136293870G>CN/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.803G>C
cDNA.1247G>C
g.14393G>C

AA changes

R268P Score: 103 explain score(s)

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

268

frameshift

known variant

Reference ID: rs121908477
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs5812 (pathogenic for Upshaw-Schulman syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM021931)

known disease mutation at this position, please check HGMD for details (HGMD ID CM021931)
known disease mutation at this position, please check HGMD for details (HGMD ID CM021931)

regulatory features

Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
USF1, Transcription Factor, USF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.051	0.719
	0.665	0.884
(flanking)	1.783	0.993

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 increased	14387	wt: 0.35 / mu: 0.39	wt: CCTCGCCTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCC mu: CCTCGCCTGGTCCCCCTGCAGCCGCCCGCAGCTGCTGAGCC	gcag\|CCGC
Acc marginally increased	14393	wt: 0.6353 / mu: 0.6657 (marginal change - not scored)	wt: CTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCA mu: CTGGTCCCCCTGCAGCCGCCCGCAGCTGCTGAGCCTGCTCA	gccg\|GCAG
Donor gained	14396	0.47	mu: CCCGCAGCTGCTGAG	CGCA\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

268

mutated

not conserved

268

Ptroglodytes

not conserved

ENSPTRG00000022942

265

Mmulatta

all identical

ENSMMUG00000000937

264

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000014852

272

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000076270

272

Dmelanogaster

not conserved

FBgn0086408

531

GSGK

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
80	286	DOMAIN	Peptidase M12B.	lost
265	265	DISULFID	By similarity.	might get lost (downstream of altered splice site)
281	281	METAL	Calcium (Potential).	might get lost (downstream of altered splice site)
281	281	DISULFID	By similarity.	might get lost (downstream of altered splice site)
284	284	METAL	Calcium (Potential).	might get lost (downstream of altered splice site)
287	383	DOMAIN	Disintegrin.	might get lost (downstream of altered splice site)
300	374	REGION	Cysteine-rich.	might get lost (downstream of altered splice site)
301	303	HELIX		might get lost (downstream of altered splice site)
307	314	HELIX		might get lost (downstream of altered splice site)
331	334	HELIX		might get lost (downstream of altered splice site)
337	340	STRAND		might get lost (downstream of altered splice site)
359	361	STRAND		might get lost (downstream of altered splice site)
364	367	STRAND		might get lost (downstream of altered splice site)
370	373	STRAND		might get lost (downstream of altered splice site)
374	377	HELIX		might get lost (downstream of altered splice site)
384	439	DOMAIN	TSP type-1 1.	might get lost (downstream of altered splice site)
396	396	DISULFID	By similarity.	might get lost (downstream of altered splice site)
399	401	STRAND		might get lost (downstream of altered splice site)
400	400	DISULFID	By similarity.	might get lost (downstream of altered splice site)
403	406	STRAND		might get lost (downstream of altered splice site)
411	411	DISULFID	By similarity.	might get lost (downstream of altered splice site)
417	419	STRAND		might get lost (downstream of altered splice site)
423	423	DISULFID	By similarity.	might get lost (downstream of altered splice site)
430	433	STRAND		might get lost (downstream of altered splice site)
433	433	DISULFID	By similarity.	might get lost (downstream of altered splice site)
438	438	DISULFID	By similarity.	might get lost (downstream of altered splice site)
442	451	HELIX		might get lost (downstream of altered splice site)
452	455	TURN		might get lost (downstream of altered splice site)
470	472	STRAND		might get lost (downstream of altered splice site)
474	476	TURN		might get lost (downstream of altered splice site)
479	483	HELIX		might get lost (downstream of altered splice site)
486	489	STRAND		might get lost (downstream of altered splice site)
495	497	STRAND		might get lost (downstream of altered splice site)
498	500	MOTIF	Cell attachment site (Potential).	might get lost (downstream of altered splice site)
519	523	STRAND		might get lost (downstream of altered splice site)
526	530	STRAND		might get lost (downstream of altered splice site)
534	536	STRAND		might get lost (downstream of altered splice site)
552	552	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
554	562	STRAND		might get lost (downstream of altered splice site)
556	685	REGION	Spacer.	might get lost (downstream of altered splice site)
569	576	STRAND		might get lost (downstream of altered splice site)
579	579	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
581	588	STRAND		might get lost (downstream of altered splice site)
592	599	STRAND		might get lost (downstream of altered splice site)
602	605	STRAND		might get lost (downstream of altered splice site)
608	610	STRAND		might get lost (downstream of altered splice site)
614	614	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
614	618	STRAND		might get lost (downstream of altered splice site)
623	632	STRAND		might get lost (downstream of altered splice site)
634	636	STRAND		might get lost (downstream of altered splice site)
638	647	STRAND		might get lost (downstream of altered splice site)
653	661	STRAND		might get lost (downstream of altered splice site)
663	665	HELIX		might get lost (downstream of altered splice site)
667	667	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
667	669	HELIX		might get lost (downstream of altered splice site)
673	680	STRAND		might get lost (downstream of altered splice site)
682	730	DOMAIN	TSP type-1 2.	might get lost (downstream of altered splice site)
707	707	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
742	805	DOMAIN	TSP type-1 3.	might get lost (downstream of altered splice site)
808	859	DOMAIN	TSP type-1 4.	might get lost (downstream of altered splice site)
828	828	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
896	950	DOMAIN	TSP type-1 5.	might get lost (downstream of altered splice site)
951	1011	DOMAIN	TSP type-1 6.	might get lost (downstream of altered splice site)
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

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

803

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

1247

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

14393

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

136293870

original gDNA sequence snippet

CTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCA

altered gDNA sequence snippet

CTGGTCCCCCTGCAGCCGCCCGCAGCTGCTGAGCCTGCTCA

original cDNA sequence snippet

CTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCA

altered cDNA sequence snippet

CTGGTCCCCCTGCAGCCGCCCGCAGCTGCTGAGCCTGCTCA

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 AWSPCSRPQL 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*

speed

1.00 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