mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999916362781 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM024497)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:134131232G>AN/A show variant in all transcripts IGV

HGNC symbol

ACAD8

Ensembl transcript ID

ENST00000537423

Genbank transcript ID

N/A

UniProt peptide

Q9UKU7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.674G>A
cDNA.857G>A
g.7844G>A

AA changes

R225Q Score: 43 explain score(s)

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

225

frameshift

known variant

Reference ID: rs121908422

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

known disease mutation at this position, please check HGMD for details (HGMD ID CM024497)

known disease mutation at this position, please check HGMD for details (HGMD ID CM024497)
known disease mutation at this position, please check HGMD for details (HGMD ID CM024497)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.799	1
	5.583	1
(flanking)	-1.262	0.306

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	7842	wt: 0.9345 / mu: 0.9522 (marginal change - not scored)	wt: AATGTCCGGAAGCAG mu: AATGTCCAGAAGCAG	TGTC\|cgga
Donor gained	7844	0.45	mu: TGTCCAGAAGCAGTT	TCCA\|gaag
Donor gained	7839	0.66	mu: CTCAATGTCCAGAAG	CAAT\|gtcc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

225

mutated

all conserved

225

Ptroglodytes

all identical

ENSPTRG00000004496

302

Mmulatta

all identical

ENSMMUG00000007107

302

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031969

300

Ggallus

all identical

ENSGALG00000001557

299

Trubripes

no homologue

Drerio

all identical

ENSDARG00000042658

304

Dmelanogaster

no homologue

Celegans

all identical

F28A10.6

290

Xtropicalis

all identical

ENSXETG00000008327

301

protein features

start (aa)	end (aa)	feature	details
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1074 / 1074

position (AA) of stopcodon in wt / mu AA sequence

358 / 358

position of stopcodon in wt / mu cDNA

1257 / 1257

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

184 / 184

chromosome

strand

last intron/exon boundary

1148

theoretical NMD boundary in CDS

914

length of CDS

1074

coding sequence (CDS) position

674

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

857

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

7844

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

134131232

original gDNA sequence snippet

CCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTC

altered gDNA sequence snippet

CCGAGACCACCTCAATGTCCAGAAGCAGTTTGGAGAGCCTC

original cDNA sequence snippet

CCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTC

altered cDNA sequence snippet

CCGAGACCACCTCAATGTCCAGAAGCAGTTTGGAGAGCCTC

wildtype AA sequence

MRKAAQLGFG GVYIQTDVGG SGLSRLDTSV IFEALATGCT STTAYISIHN MCAWMIDSFG
NEEQRHKFCP PLCTMEKFAS YCLTEPGSGS DAASLLTSAK KQGDHYILNG SKAFISGAGE
SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI FEDCAVPVAN
RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVRKQFGE PLASNQYLQF
TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN QALQMHGGYG
YLKDYAVQQY VRDSRVHQIL EELFWQGPGV QSRSFVPFGG PQIALLLPFS SGDLREG*

mutated AA sequence

MRKAAQLGFG GVYIQTDVGG SGLSRLDTSV IFEALATGCT STTAYISIHN MCAWMIDSFG
NEEQRHKFCP PLCTMEKFAS YCLTEPGSGS DAASLLTSAK KQGDHYILNG SKAFISGAGE
SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI FEDCAVPVAN
RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVQKQFGE PLASNQYLQF
TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN QALQMHGGYG
YLKDYAVQQY VRDSRVHQIL EELFWQGPGV QSRSFVPFGG PQIALLLPFS SGDLREG*

speed

0.53 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