mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 0.999999999999908 (classification due to ClinVar, real probability is shown anyway) (explain) | ||||||||||||
Summary |
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hyperlink | ||||||||||||
analysed issue | analysis result | |||||||||||||
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name of alteration | no title | |||||||||||||
alteration (phys. location) | chr9:136293816C>TN/A show variant in all transcripts IGV | |||||||||||||
HGNC symbol | ADAMTS13 | |||||||||||||
Ensembl transcript ID | ENST00000371916 | |||||||||||||
Genbank transcript ID | N/A | |||||||||||||
UniProt peptide | N/A | |||||||||||||
alteration type | single base exchange | |||||||||||||
alteration region | intron | |||||||||||||
DNA changes | g.14339C>T | |||||||||||||
AA changes | N/A | |||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
frameshift | N/A | |||||||||||||
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 |
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splice sites |
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distance from splice site | 2351 | |||||||||||||
Kozak consensus sequence altered? | N/A | |||||||||||||
conservation protein level for non-synonymous changes | N/A | |||||||||||||
protein features | N/A | |||||||||||||
length of protein | N/A | |||||||||||||
AA sequence altered | N/A | |||||||||||||
position of stopcodon in wt / mu CDS | N/A | |||||||||||||
position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
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 | 4221 | |||||||||||||
theoretical NMD boundary in CDS | 3726 | |||||||||||||
length of CDS | 831 | |||||||||||||
coding sequence (CDS) position | N/A | |||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | N/A | |||||||||||||
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 | N/A | |||||||||||||
altered cDNA sequence snippet | N/A | |||||||||||||
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 TIAHEIGHRI CARPSPATQT RWTKAAAAAS SFLSWMGQNV AWRSGAPRVA AAPWWS* | |||||||||||||
mutated AA sequence | N/A | |||||||||||||
speed | 0.88 s | |||||||||||||