Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.755423445588626 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042929)
  • known disease mutation: rs5818 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136293816C>TN/A show variant in all transcripts   IGV
HGNC symbol ADAMTS13
Ensembl transcript ID ENST00000371911
Genbank transcript ID N/A
UniProt peptide Q76LX8
alteration type single base exchange
alteration region CDS
DNA changes c.749C>T
cDNA.869C>T
g.14339C>T
AA changes A250V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 250
frameshift no
known variant Reference ID: rs121908478
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs5818 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM042929)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042929)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042929)
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
PhyloPPhastCons
(flanking)4.4681
0.8630.67
(flanking)-2.450
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased14331wt: 0.9652 / mu: 0.9669 (marginal change - not scored)wt: GGACACGTGATGGCT
mu: GGACACGTGATGGTT		 ACAC|gtga
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      250GSGCGPSGHVMASDGAAPRAGLAW
mutated  not conserved    250GCGPSGHVMVSDGAAPRAGLA
Ptroglodytes  no alignment  ENSPTRG00000022942  n/a
Mmulatta  all identical  ENSMMUG00000000937  246GCGPSGHVMASDGAAPRAGLA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000014852  254GHVMAADGATPTGGTLE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076270  254NT-CSSSGFMMASDGGYNSVDLT
Dmelanogaster  not conserved  FBgn0086408  513EISCDPTMHIM-----SPKLGSGKVT
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
80286DOMAINPeptidase M12B.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1035 / 1035
position (AA) of stopcodon in wt / mu AA sequence 345 / 345
position of stopcodon in wt / mu cDNA 1155 / 1155
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 945
theoretical NMD boundary in CDS 774
length of CDS 1035
coding sequence (CDS) position 749
cDNA position
(for ins/del: last normal base / first normal base)		 869
gDNA position
(for ins/del: last normal base / first normal base)		 14339
chromosomal position
(for ins/del: last normal base / first normal base)		 136293816
original gDNA sequence snippet CCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCC
altered gDNA sequence snippet CCCCAGCGGACACGTGATGGTTTCGGACGGCGCCGCGCCCC
original cDNA sequence snippet CCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCC
altered cDNA sequence snippet CCCCAGCGGACACGTGATGGTTTCGGACGGCGCCGCGCCCC
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 LSLLRPVPPS PLPLLATHLC AGRSLSLGPS
QEPAPGGGRG PRTPVPTHKR PRFQTLPSSC PLLRPASSRC TPRD*
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
GCGPSGHVMV SDGAAPRAGL AWSPCSRRQL LSLLRPVPPS PLPLLATHLC AGRSLSLGPS
QEPAPGGGRG PRTPVPTHKR PRFQTLPSSC PLLRPASSRC TPRD*
speed 0.47 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