Yum, tasty mutations...

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
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM068692)
  • splice site changes
hyperlink
analysed issue analysis result
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
databasehomozygous (G/G)heterozygousallele carriers
1000G2728161088
ExAC53761672722103

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
PhyloPPhastCons
(flanking)-4.0470.028
2.120.969
(flanking)3.770.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 346)
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased22504wt: 0.44 / mu: 0.86wt: ATGTCGCAACAGTGC
mu: ATGTCGGAACAGTGC
 GTCG|caac
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
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