mutation t@sting

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Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM012890)
known disease mutation: rs5804 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136303015A>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.1725A>G
g.23538A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs121908473

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs5804 (pathogenic for Upshaw-Schulman syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012890)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012890)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012890)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Rad21, Transcription Factor, Rad21 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.195	1
	0.428	1
(flanking)	0.626	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing
splice site change occurs after stopcodon (at aa 425) splice site change occurs after stopcodon (at aa 427)

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	23539	sequence motif lost	-	wt: CAGG\|gtag mu: CGGG.gtag
Acc marginally increased	23528	wt: 0.3771 / mu: 0.4347 (marginal change - not scored)	wt: ACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGGGTAGGCGT mu: ACCCTGAGCCTGTGTGTGTCGGGCAGCTGCGGGGTAGGCGT	gtcg\|GGCA
Donor decreased	23539	wt: 0.69 / mu: 0.28	wt: CTGCAGGGTAGGCGT mu: CTGCGGGGTAGGCGT	GCAG\|ggta
Donor increased	23532	wt: 0.25 / mu: 0.72	wt: CGGGCAGCTGCAGGG mu: CGGGCAGCTGCGGGG	GGCA\|gctg

distance from splice site

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

strand

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)

1725

gDNA position
(for ins/del: last normal base / first normal base)

23538

chromosomal position
(for ins/del: last normal base / first normal base)

136303015

original gDNA sequence snippet

TGTGTGTGTCGGGCAGCTGCAGGGTAGGCGTGTGTGGACAT

altered gDNA sequence snippet

TGTGTGTGTCGGGCAGCTGCGGGGTAGGCGTGTGTGGACAT

original cDNA sequence snippet

TGTGTGTGTCGGGCAGCTGCAGGACATTTGGCTGTGATGGT

altered cDNA sequence snippet

TGTGTGTGTCGGGCAGCTGCGGGACATTTGGCTGTGATGGT

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

0.76 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