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 CM070642)
known disease mutation: rs5356 (pathogenic)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:134132450G>AN/A show variant in all transcripts IGV

HGNC symbol

ACAD8

Ensembl transcript ID

ENST00000543332

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.1133G>A
g.9062G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121908419

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	10	10

known disease mutation: rs5356 (pathogenic for Deficiency of isobutyryl-CoA dehydrogenase|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM070642)

known disease mutation at this position, please check HGMD for details (HGMD ID CM070642)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070642)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.488	0.828
	6.216	1
(flanking)	6.216	1

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

splice sites

splice site change occurs after stopcodon (at aa 322) splice site change occurs after stopcodon (at aa 323)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	9067	wt: 0.80 / mu: 0.94	wt: GGCTACCTGAAGGAT mu: AGCTACCTGAAGGAT	CTAC\|ctga
Donor increased	9062	wt: 0.38 / mu: 0.90	wt: GCTACGGCTACCTGA mu: GCTACAGCTACCTGA	TACG\|gcta

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

168 / 168

chromosome

strand

last intron/exon boundary

1097

theoretical NMD boundary in CDS

879

length of CDS

681

coding sequence (CDS) position

N/A

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

1133

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

9062

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

134132450

original gDNA sequence snippet

TGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCT

altered gDNA sequence snippet

TGCAGATGCACGGGGGCTACAGCTACCTGAAGGATTACGCT

original cDNA sequence snippet

TGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCT

altered cDNA sequence snippet

TGCAGATGCACGGGGGCTACAGCTACCTGAAGGATTACGCT

wildtype AA sequence

MKSRKNFKKW PLTLLPERWL QIWQSGTRSM CAWMIDSFGN EEQRHKFCPP LCTMEKFASY
CLTEPGSGSD AASLLTSAKK QGDHYILNGS KAFISGAGES DIYVVMCRTG GPGPKGISCI
VVEKGTPGLS FGKKEKKVGW NSQPTRAVIF EDCAVPVANR IGSEGQGFLI AVRGLNGGRI
NIASCSLGAA HASVILTRDH LNVRKQFGEP LASNQKKQET LKLWIT*

mutated AA sequence

N/A

speed

1.09 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