mutation t@sting

documentation

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 CM012894)
known disease mutation: rs5808 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:136321260G>AN/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.3781G>A
g.41783G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121908474
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5808 (pathogenic for Upshaw-Schulman syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.462	0.948
	3.31	0.936
(flanking)	-0.058	0.098

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

splice sites

splice site change occurs after stopcodon (at aa 1109) splice site change occurs after stopcodon (at aa 1112) splice site change occurs after stopcodon (at aa 1113)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	41787	wt: 0.24 / mu: 0.35	wt: TGTGCAGTGGCCATT mu: TATGCAGTGGCCATT	TGCA\|gtgg
Donor increased	41784	wt: 0.34 / mu: 0.68	wt: GACTGTGCAGTGGCC mu: GACTATGCAGTGGCC	CTGT\|gcag
Donor increased	41775	wt: 0.54 / mu: 0.67	wt: GGGCAGGCAGACTGT mu: GGGCAGGCAGACTAT	GCAG\|gcag

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)

3781

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

41783

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

136321260

original gDNA sequence snippet

AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC

altered gDNA sequence snippet

AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC

original cDNA sequence snippet

AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC

altered cDNA sequence snippet

AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC

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

1.34 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