Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999987931507749 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012889)
  • known disease mutation: rs5802 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136298598G>AN/A show variant in all transcripts   IGV
HGNC symbol ADAMTS13
Ensembl transcript ID ENST00000536611
Genbank transcript ID N/A
UniProt peptide Q76LX8
alteration type single base exchange
alteration region CDS
DNA changes c.209G>A
cDNA.829G>A
g.19121G>A
AA changes R70H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 70
frameshift no
known variant Reference ID: rs121908471
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5802 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012889)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012889)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012889)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)5.2131
5.2131
(flanking)0.3731
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased19121wt: 0.3744 / mu: 0.3895 (marginal change - not scored)wt: TCCCCGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGG
mu: TCCCCGAAGTCCTTGCTCCCACTCCTGCGGAGGAGGTGTGG		 cccg|CTCC
Acc marginally increased19124wt: 0.8311 / mu: 0.8822 (marginal change - not scored)wt: CCGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGGTCA
mu: CCGAAGTCCTTGCTCCCACTCCTGCGGAGGAGGTGTGGTCA		 gctc|CTGC
Acc marginally increased19125wt: 0.8573 / mu: 0.8611 (marginal change - not scored)wt: CGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGGTCAC
mu: CGAAGTCCTTGCTCCCACTCCTGCGGAGGAGGTGTGGTCAC		 ctcc|TGCG
Acc increased19127wt: 0.33 / mu: 0.44wt: AAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGGTCACCA
mu: AAGTCCTTGCTCCCACTCCTGCGGAGGAGGTGTGGTCACCA		 cctg|CGGA
distance from splice site 52
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      70WSSWGPRSPCSRSCGGGVVTRRRQ
mutated  not conserved    70SWGPRSPCSHSCGGGVVTRRR
Ptroglodytes  all identical  ENSPTRG00000022942  356SWGPQSPCSRSCGGGVVTRRR
Mmulatta  all identical  ENSMMUG00000000937  394SWGPQSPCSRSCGGGVVTRRR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000014852  403SWGPHSPCSRSCGGGVITRRR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076270  397AWSDFSPCSRTCGGGITHRRR
Dmelanogaster  not conserved  FBgn0086408  667WGEWSEPSACESGCLYGQSR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
3074PROPEP /FTId=PRO_0000247510.lost
7171MUTAGENR->K: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with D-73.might get lost (downstream of altered splice site)
7373MUTAGENR->D: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with K-71.might get lost (downstream of altered splice site)
80286DOMAINPeptidase M12B.might get lost (downstream of altered splice site)
8383METALCalcium (Potential).might get lost (downstream of altered splice site)
101101CONFLICTE -> R (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
142142CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
146146CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173173METALCalcium (Potential).might get lost (downstream of altered splice site)
202202DISULFIDBy similarity.might get lost (downstream of altered splice site)
224224METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
225225ACT_SITEBy similarity.might get lost (downstream of altered splice site)
228228METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
234234METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
242242DISULFIDBy similarity.might get lost (downstream of altered splice site)
265265DISULFIDBy similarity.might get lost (downstream of altered splice site)
281281DISULFIDBy similarity.might get lost (downstream of altered splice site)
281281METALCalcium (Potential).might get lost (downstream of altered splice site)
284284METALCalcium (Potential).might get lost (downstream of altered splice site)
287383DOMAINDisintegrin.might get lost (downstream of altered splice site)
300374REGIONCysteine-rich.might get lost (downstream of altered splice site)
301303HELIXmight get lost (downstream of altered splice site)
307314HELIXmight get lost (downstream of altered splice site)
331334HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
359361STRANDmight get lost (downstream of altered splice site)
364367STRANDmight get lost (downstream of altered splice site)
370373STRANDmight get lost (downstream of altered splice site)
374377HELIXmight get lost (downstream of altered splice site)
384439DOMAINTSP type-1 1.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
399401STRANDmight get lost (downstream of altered splice site)
400400DISULFIDBy similarity.might get lost (downstream of altered splice site)
403406STRANDmight get lost (downstream of altered splice site)
411411DISULFIDBy similarity.might get lost (downstream of altered splice site)
417419STRANDmight get lost (downstream of altered splice site)
423423DISULFIDBy similarity.might get lost (downstream of altered splice site)
430433STRANDmight get lost (downstream of altered splice site)
433433DISULFIDBy similarity.might get lost (downstream of altered splice site)
438438DISULFIDBy similarity.might get lost (downstream of altered splice site)
442451HELIXmight get lost (downstream of altered splice site)
452455TURNmight get lost (downstream of altered splice site)
470472STRANDmight get lost (downstream of altered splice site)
474476TURNmight get lost (downstream of altered splice site)
479483HELIXmight get lost (downstream of altered splice site)
486489STRANDmight get lost (downstream of altered splice site)
495497STRANDmight get lost (downstream of altered splice site)
498500MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
519523STRANDmight get lost (downstream of altered splice site)
526530STRANDmight get lost (downstream of altered splice site)
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 1095 / 1095
position (AA) of stopcodon in wt / mu AA sequence 365 / 365
position of stopcodon in wt / mu cDNA 1715 / 1715
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 621 / 621
chromosome 9
strand 1
last intron/exon boundary 2046
theoretical NMD boundary in CDS 1375
length of CDS 1095
coding sequence (CDS) position 209
cDNA position
(for ins/del: last normal base / first normal base)		 829
gDNA position
(for ins/del: last normal base / first normal base)		 19121
chromosomal position
(for ins/del: last normal base / first normal base)		 136298598
original gDNA sequence snippet TCCCCGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGG
altered gDNA sequence snippet TCCCCGAAGTCCTTGCTCCCACTCCTGCGGAGGAGGTGTGG
original cDNA sequence snippet TCCCCGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGG
altered cDNA sequence snippet TCCCCGAAGTCCTTGCTCCCACTCCTGCGGAGGAGGTGTGG
wildtype AA sequence MDMCQALSCH TDPLDQSSCS RLLVPLLDGT ECGVEKWCSK GRCRSLVELT PIAAVHGRWS
SWGPRSPCSR SCGGGVVTRR RQCNNPRPAF GGRACVGADL QAEMCNTQAC EKTQLEFMSQ
QCARTDGQPL RSSPGGASFY HWGAAVPHSQ GDALCRHMCR AIGESFIMKR GDSFLDGTRC
MPSGPREDGT LSLCVSGSCR TFGCDGRMDS QQVWDRCQVC GGDNSTCSPR KGSFTAGRAR
EYVTFLTVTP NLTSVYIANH RPLFTHLAVR IGGRYVVAGK MSISPNTTYP SLLEDGRVEY
RVALTEDRLP RLEEIRIWGP LQEDADIQVG GVRAQLMHIS WWSRPGLGER DLCARGRWPG
GSSD*
mutated AA sequence MDMCQALSCH TDPLDQSSCS RLLVPLLDGT ECGVEKWCSK GRCRSLVELT PIAAVHGRWS
SWGPRSPCSH SCGGGVVTRR RQCNNPRPAF GGRACVGADL QAEMCNTQAC EKTQLEFMSQ
QCARTDGQPL RSSPGGASFY HWGAAVPHSQ GDALCRHMCR AIGESFIMKR GDSFLDGTRC
MPSGPREDGT LSLCVSGSCR TFGCDGRMDS QQVWDRCQVC GGDNSTCSPR KGSFTAGRAR
EYVTFLTVTP NLTSVYIANH RPLFTHLAVR IGGRYVVAGK MSISPNTTYP SLLEDGRVEY
RVALTEDRLP RLEEIRIWGP LQEDADIQVG GVRAQLMHIS WWSRPGLGER DLCARGRWPG
GSSD*
speed 1.27 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