Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012890)
  • known disease mutation: rs5804 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136303015A>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.1582A>G
cDNA.2026A>G
g.23538A>G
AA changes R528G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 528
frameshift no
known variant Reference ID: rs121908473
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs5804 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012890)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012890)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012890)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)3.1951
0.4281
(flanking)0.6261
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost23539sequence motif lost- wt: CAGG|gtag
 mu: CGGG.gtag
Acc marginally increased23528wt: 0.3771 / mu: 0.4347 (marginal change - not scored)wt: ACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGGGTAGGCGT
mu: ACCCTGAGCCTGTGTGTGTCGGGCAGCTGCGGGGTAGGCGT		 gtcg|GGCA
Donor decreased23539wt: 0.69 / mu: 0.28wt: CTGCAGGGTAGGCGT
mu: CTGCGGGGTAGGCGT		 GCAG|ggta
Donor increased23532wt: 0.25 / mu: 0.72wt: CGGGCAGCTGCAGGG
mu: CGGGCAGCTGCGGGG		 GGCA|gctg
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      528GTLSLCVSGSCRTFGCDGRMDSQQ
mutated  not conserved    528GTLSLCVSGSCGTFGCDGRMDSQ
Ptroglodytes  all identical  ENSPTRG00000022942  486GTLSLCVSGSCRTFGCDGRM
Mmulatta  all identical  ENSMMUG00000000937  524GTLSLCVSGSCRTFGCDGRMDSQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000014852  533GTLSLCLLGSCRTFGCDGRMDSQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000076270  527ACLSGKCQLFGCDGALHSG
Dmelanogaster  not conserved  FBgn0086408  824ISGRCERFSCD
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
526530STRANDlost
534536STRANDmight get lost (downstream of altered splice site)
552552CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
554562STRANDmight get lost (downstream of altered splice site)
556685REGIONSpacer.might get lost (downstream of altered splice site)
569576STRANDmight get lost (downstream of altered splice site)
579579CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
581588STRANDmight get lost (downstream of altered splice site)
592599STRANDmight get lost (downstream of altered splice site)
602605STRANDmight get lost (downstream of altered splice site)
608610STRANDmight get lost (downstream of altered splice site)
614614CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
614618STRANDmight get lost (downstream of altered splice site)
623632STRANDmight get lost (downstream of altered splice site)
634636STRANDmight get lost (downstream of altered splice site)
638647STRANDmight get lost (downstream of altered splice site)
653661STRANDmight get lost (downstream of altered splice site)
663665HELIXmight get lost (downstream of altered splice site)
667667CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
673680STRANDmight get lost (downstream of altered splice site)
682730DOMAINTSP type-1 2.might get lost (downstream of altered splice site)
707707CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
742805DOMAINTSP type-1 3.might get lost (downstream of altered splice site)
808859DOMAINTSP type-1 4.might get lost (downstream of altered splice site)
828828CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
896950DOMAINTSP type-1 5.might get lost (downstream of altered splice site)
9511011DOMAINTSP type-1 6.might get lost (downstream of altered splice site)
10121068DOMAINTSP type-1 7.might get lost (downstream of altered splice site)
10721131DOMAINTSP type-1 8.might get lost (downstream of altered splice site)
11921298DOMAINCUB 1.might get lost (downstream of altered splice site)
12351235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12991427DOMAINCUB 2.might get lost (downstream of altered splice site)
13541354CARBOHYDN-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 9
strand 1
last intron/exon boundary 4522
theoretical NMD boundary in CDS 4027
length of CDS 4284
coding sequence (CDS) position 1582
cDNA position
(for ins/del: last normal base / first normal base)		 2026
gDNA position
(for ins/del: last normal base / first normal base)		 23538
chromosomal position
(for ins/del: last normal base / first normal base)		 136303015
original gDNA sequence snippet TGTGTGTGTCGGGCAGCTGCAGGGTAGGCGTGTGTGGACAT
altered gDNA sequence snippet TGTGTGTGTCGGGCAGCTGCGGGGTAGGCGTGTGTGGACAT
original cDNA sequence snippet TGTGTGTGTCGGGCAGCTGCAGGACATTTGGCTGTGATGGT
altered cDNA sequence snippet TGTGTGTGTCGGGCAGCTGCGGGACATTTGGCTGTGATGGT
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 LCVSGSCGTF 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 0.33 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