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 CM063821)
known disease mutation: rs5355 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:134128483T>CN/A show variant in all transcripts IGV

HGNC symbol

ACAD8

Ensembl transcript ID

ENST00000374752

Genbank transcript ID

N/A

UniProt peptide

Q9UKU7

alteration type

single base exchange

alteration region

intron

DNA changes

g.5095T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121908418

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	9	9

known disease mutation: rs5355 (pathogenic for Deficiency of isobutyryl-CoA dehydrogenase) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063821)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.049	1
	5.049	1
(flanking)	6.115	1

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
Acc increased	5090	wt: 0.41 / mu: 0.47	wt: AAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTC mu: AAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTC	ctgt\|ACCA
Acc marginally increased	5088	wt: 0.4865 / mu: 0.5123 (marginal change - not scored)	wt: ACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCT mu: ACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGCT	ctct\|GTAC
Acc increased	5087	wt: 0.32 / mu: 0.47	wt: CACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGC mu: CACAAATTTTGCCCACCGCTCTGTACCACGGAGAAGTTTGC	gctc\|TGTA
Donor marginally increased	5096	wt: 0.9969 / mu: 0.9982 (marginal change - not scored)	wt: ACCATGGAGAAGTTT mu: ACCACGGAGAAGTTT	CATG\|gaga

distance from splice site

419

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
37	40	TURN		might get lost (downstream of altered splice site)
43	59	HELIX		might get lost (downstream of altered splice site)
60	63	TURN		might get lost (downstream of altered splice site)
64	70	HELIX		might get lost (downstream of altered splice site)
75	83	HELIX		might get lost (downstream of altered splice site)
93	95	HELIX		might get lost (downstream of altered splice site)
102	113	HELIX		might get lost (downstream of altered splice site)
117	136	HELIX		might get lost (downstream of altered splice site)
139	150	HELIX		might get lost (downstream of altered splice site)
156	159	STRAND		might get lost (downstream of altered splice site)
158	167	NP_BIND	FAD.	might get lost (downstream of altered splice site)
165	168	STRAND		might get lost (downstream of altered splice site)
167	167	BINDING	Substrate; via carbonyl oxygen.	might get lost (downstream of altered splice site)
169	171	HELIX		might get lost (downstream of altered splice site)
175	179	STRAND		might get lost (downstream of altered splice site)
182	193	STRAND		might get lost (downstream of altered splice site)
191	193	NP_BIND	FAD.	might get lost (downstream of altered splice site)
194	197	TURN		might get lost (downstream of altered splice site)
199	211	STRAND		might get lost (downstream of altered splice site)
210	210	CONFLICT	P -> L (in Ref. 4; AAH01964).	might get lost (downstream of altered splice site)
212	214	HELIX		might get lost (downstream of altered splice site)
215	221	STRAND		might get lost (downstream of altered splice site)
227	229	STRAND		might get lost (downstream of altered splice site)
235	237	STRAND		might get lost (downstream of altered splice site)
243	254	STRAND		might get lost (downstream of altered splice site)
255	257	HELIX		might get lost (downstream of altered splice site)
258	261	STRAND		might get lost (downstream of altered splice site)
265	301	HELIX		might get lost (downstream of altered splice site)
274	277	REGION	Substrate binding.	might get lost (downstream of altered splice site)
302	302	BINDING	FAD; shared with dimeric partner.	might get lost (downstream of altered splice site)
309	311	HELIX		might get lost (downstream of altered splice site)
312	313	NP_BIND	FAD; shared with dimeric partner.	might get lost (downstream of altered splice site)
313	341	HELIX		might get lost (downstream of altered splice site)
347	372	HELIX		might get lost (downstream of altered splice site)
371	375	NP_BIND	FAD; shared with dimeric partner.	might get lost (downstream of altered splice site)
373	378	HELIX		might get lost (downstream of altered splice site)
384	393	HELIX		might get lost (downstream of altered splice site)
394	396	TURN		might get lost (downstream of altered splice site)
397	399	STRAND		might get lost (downstream of altered splice site)
398	398	ACT_SITE	Proton acceptor.	might get lost (downstream of altered splice site)
399	399	BINDING	Substrate; via amide nitrogen.	might get lost (downstream of altered splice site)
400	402	NP_BIND	FAD.	might get lost (downstream of altered splice site)
401	414	HELIX		might get lost (downstream of altered splice site)
410	410	BINDING	Substrate.	might get lost (downstream of altered splice site)

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

41 / 41

chromosome

strand

last intron/exon boundary

855

theoretical NMD boundary in CDS

764

length of CDS

867

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)

5095

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

134128483

original gDNA sequence snippet

TTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACT

altered gDNA sequence snippet

TTGCCCACCGCTCTGTACCACGGAGAAGTTTGCTTCCTACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDRSGS DAASLLTSAK KQGDHYILNG
SKAFISGAGE SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI
FEDCAVPVAN RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVRKQFGE
PLASNQYLQF TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN
QALQMHGGYG YLKDYAVQQY VRDSRVHQIL EGSNEVMRIL ISRSLLQE*

mutated AA sequence

N/A

speed

0.37 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