mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 1.30379234012205e-19 (classification due to TGP/ExAC, 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) | chr9:136301982C>GN/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 | 3'UTR | |||||||||||||
DNA changes | cDNA.1485C>G g.22505C>G | |||||||||||||
AA changes | N/A | |||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
frameshift | N/A | |||||||||||||
known variant | Reference ID: rs2301612
known disease mutation at this position, please check HGMD for details (HGMD ID CM068692) | |||||||||||||
regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | |||||||||||||
phyloP / phastCons |
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splice sites | splice site change occurs after stopcodon (at aa 346)
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distance from splice site | 34 | |||||||||||||
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 | signal is predicted to be ok | |||||||||||||
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) | 1485 | |||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 22505 | |||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 136301982 | |||||||||||||
original gDNA sequence snippet | CCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGAC | |||||||||||||
altered gDNA sequence snippet | CCCAGCTGGAGTTCATGTCGGAACAGTGCGCCAGGACCGAC | |||||||||||||
original cDNA sequence snippet | CCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGAC | |||||||||||||
altered cDNA sequence snippet | CCCAGCTGGAGTTCATGTCGGAACAGTGCGCCAGGACCGAC | |||||||||||||
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 | 0.31 s | |||||||||||||