Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999805821896 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012892)
  • known disease mutation: rs5799 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136313839T>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.2758T>G
cDNA.2878T>G
g.34362T>G
AA changes C920G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 920
frameshift no
known variant Reference ID: rs121908468
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5799 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012892)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012892)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012892)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5850.032
1.9780.948
(flanking)4.2710.995
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc decreased34371wt: 0.89 / mu: 0.62wt: AGGCTGTCCCGTGCCCTGCTCGGTGAGTGAGGGGAGCAAGA
mu: AGGCTGTCCCGGGCCCTGCTCGGTGAGTGAGGGGAGCAAGA		 gctc|GGTG
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      920GSRREVCQAVPCPARWQYKLAACS
mutated  not conserved    920GSRREVCQAVPGPARWQYKLAAC
Ptroglodytes  all identical  ENSPTRG00000022942  909GSRREVCQAVPCPARWRYKLAAC
Mmulatta  all identical  ENSMMUG00000000937  947GSRREVCQAVPCPARWQYKLA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000014852  958PSRWEVCRARPCPARWETQVLAP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076270  953PEVVE-CNTEKCKARWQVGDQGDC
Dmelanogaster  no alignment  FBgn0086408  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
896950DOMAINTSP type-1 5.lost
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 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 9
strand 1
last intron/exon boundary 3937
theoretical NMD boundary in CDS 3766
length of CDS 4023
coding sequence (CDS) position 2758
cDNA position
(for ins/del: last normal base / first normal base)		 2878
gDNA position
(for ins/del: last normal base / first normal base)		 34362
chromosomal position
(for ins/del: last normal base / first normal base)		 136313839
original gDNA sequence snippet AGGTCTGCCAGGCTGTCCCGTGCCCTGCTCGGTGAGTGAGG
altered gDNA sequence snippet AGGTCTGCCAGGCTGTCCCGGGCCCTGCTCGGTGAGTGAGG
original cDNA sequence snippet AGGTCTGCCAGGCTGTCCCGTGCCCTGCTCGGTGGCAGTAC
altered cDNA sequence snippet AGGTCTGCCAGGCTGTCCCGGGCCCTGCTCGGTGGCAGTAC
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 RREVCQAVPG 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 *
speed 0.67 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