mutation t@sting

Prediction

disease causing

Model: without_aae, prob: 0.999999999999908 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM042929)
known disease mutation: rs5818 (pathogenic)

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

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

	PhyloP	PhastCons
(flanking)	4.468	1
	0.863	0.67
(flanking)	-2.45	0

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	14331	wt: 0.9652 / mu: 0.9669 (marginal change - not scored)	wt: GGACACGTGATGGCT mu: GGACACGTGATGGTT	ACAC\|gtga

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

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)

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

1.17 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