mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999997895639 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM025383)
known disease mutation: rs1499 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:73949644T>CN/A show variant in all transcripts IGV

HGNC symbol

ACOX1

Ensembl transcript ID

ENST00000538781

Genbank transcript ID

N/A

UniProt peptide

Q15067

alteration type

single base exchange

alteration region

CDS

DNA changes

c.628A>G
cDNA.1048A>G
g.25872A>G

AA changes

M210V Score: 21 explain score(s)

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

210

frameshift

known variant

Reference ID: rs118204090
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1499 (pathogenic for Peroxisomal acyl-CoA oxidase deficiency) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM025383)

known disease mutation at this position, please check HGMD for details (HGMD ID CM025383)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025383)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.969	1
	4.969	1
(flanking)	3.278	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
Donor gained	25871	0.85	mu: GGGACCGTGGTGTTT	GACC\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

210

mutated

all conserved

210

Ptroglodytes

all identical

ENSPTRG00000009665

278

Mmulatta

all identical

ENSMMUG00000014172

278

Fcatus

all identical

ENSFCAG00000005765

279

Mmusculus

all identical

ENSMUSG00000020777

278

Ggallus

all identical

ENSGALG00000002159

279

Trubripes

no homologue

Drerio

all identical

ENSDARG00000014727

278

Dmelanogaster

all identical

FBgn0027572

291

Celegans

all identical

F59F4.1

288

Xtropicalis

all identical

ENSXETG00000012601

291

protein features

start (aa)	end (aa)	feature	details
212	213	CONFLICT	IG -> NR (in Ref. 1; AAA19113/AAA19114 and 2; AAA18595).	might get lost (downstream of altered splice site)
255	255	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
264	264	CONFLICT	T -> P (in Ref. 1; AAA19113/AAA19114 and 2; AAA18595).	might get lost (downstream of altered splice site)
267	267	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
310	310	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
332	332	CONFLICT	F -> L (in Ref. 2; AAA18595).	might get lost (downstream of altered splice site)
421	421	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
437	437	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
449	449	CONFLICT	C -> R (in Ref. 2; AAA18595).	might get lost (downstream of altered splice site)
490	490	CONFLICT	R -> L (in Ref. 5; BAF85654).	might get lost (downstream of altered splice site)
500	500	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
504	504	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
531	531	CONFLICT	C -> L (in Ref. 1; AAA19113/AAA19114 and 2; AAA18595).	might get lost (downstream of altered splice site)
534	535	CONFLICT	VV -> GL (in Ref. 1; AAA19113/AAA19114 and 2; AAA18595).	might get lost (downstream of altered splice site)
615	615	CONFLICT	V -> A (in Ref. 3; CAA50574).	might get lost (downstream of altered splice site)
643	643	MOD_RES	N6-acetyllysine (By similarity).	might get lost (downstream of altered splice site)
649	649	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
650	650	CONFLICT	Y -> YH (in Ref. 4; AAB30019).	might get lost (downstream of altered splice site)
651	651	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
658	660	MOTIF	Microbody targeting signal.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1779 / 1779

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

593 / 593

position of stopcodon in wt / mu cDNA

2199 / 2199

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

421 / 421

chromosome

strand

-1

last intron/exon boundary

2152

theoretical NMD boundary in CDS

1681

length of CDS

1779

coding sequence (CDS) position

628

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

1048

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

25872

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

73949644

original gDNA sequence snippet

ACAAGCTGACTTACGGGACCATGGTGTTTGTCAGGTCCTTC

altered gDNA sequence snippet

ACAAGCTGACTTACGGGACCGTGGTGTTTGTCAGGTCCTTC

original cDNA sequence snippet

ACAAGCTGACTTACGGGACCATGGTGTTTGTCAGGTCCTTC

altered cDNA sequence snippet

ACAAGCTGACTTACGGGACCGTGGTGTTTGTCAGGTCCTTC

wildtype AA sequence

MAAFIQRTPD NWHLRPDGNG PRFVHRGRPE PLDLHLGMFL PTLLHQATAE QQERFFMPAW
NLEIIGTYAQ TEMGHGTHLR GLETTATYDP ETQEFILNSP TVTSIKWWPG GLGKTSNHAI
VLAQLITKGK CYGLHAFIVP IREIGTHKPL PGITVGDIGP KFGYDEIDNG YLKMDNHRIP
RENMLMKYAQ VKPDGTYVKP LSNKLTYGTM VFVRSFLVGE AARALSKACT IAIRYSAVRH
QSEIKPGEPE PQILDFQTQQ YKLFPLLATA YAFQFVGAYM KETYHRINEG IGQGDLSELP
ELHALTAGLK AFTSWTANTG IEACRMACGG HGYSHCSGLP NIYVNFTPSC TFEGENTVMM
LQTARFLMKS YDQVHSGKLV CGMVSYLNDL PSQRIQPQQV AVWPTMVDIN SPESLTEAYK
LRAARLVEIA AKNLQKEVIH RKSKEVAWNL TSVDLVRASE AHCHYVVVKL FSEKLLKIQD
KAIQAVLRSL CLLYSLYGIS QNAGDFLQGS IMTEPQITQV NQRVKELLTL IRSDAVALVD
AFDFQDVTLG SVLGRYDGNV YENLFEWAKN SPLNKAEVHE SYKHLKSLQS KL*

mutated AA sequence

MAAFIQRTPD NWHLRPDGNG PRFVHRGRPE PLDLHLGMFL PTLLHQATAE QQERFFMPAW
NLEIIGTYAQ TEMGHGTHLR GLETTATYDP ETQEFILNSP TVTSIKWWPG GLGKTSNHAI
VLAQLITKGK CYGLHAFIVP IREIGTHKPL PGITVGDIGP KFGYDEIDNG YLKMDNHRIP
RENMLMKYAQ VKPDGTYVKP LSNKLTYGTV VFVRSFLVGE AARALSKACT IAIRYSAVRH
QSEIKPGEPE PQILDFQTQQ YKLFPLLATA YAFQFVGAYM KETYHRINEG IGQGDLSELP
ELHALTAGLK AFTSWTANTG IEACRMACGG HGYSHCSGLP NIYVNFTPSC TFEGENTVMM
LQTARFLMKS YDQVHSGKLV CGMVSYLNDL PSQRIQPQQV AVWPTMVDIN SPESLTEAYK
LRAARLVEIA AKNLQKEVIH RKSKEVAWNL TSVDLVRASE AHCHYVVVKL FSEKLLKIQD
KAIQAVLRSL CLLYSLYGIS QNAGDFLQGS IMTEPQITQV NQRVKELLTL IRSDAVALVD
AFDFQDVTLG SVLGRYDGNV YENLFEWAKN SPLNKAEVHE SYKHLKSLQS KL*

speed

1.12 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