MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000370214
Querying Taster for transcript #2: ENST00000315713
Querying Taster for transcript #3: ENST00000394233
Querying Taster for transcript #4: ENST00000454898
Querying Taster for transcript #5: ENST00000536817
MT speed 0 s - this script 3.266453 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABCD3	disease_causing	0.997558424554628	simple_aae		affected		G17D	single base exchange	rs121917999		show file
ABCD3	disease_causing	0.997558424554628	simple_aae		affected		G17D	single base exchange	rs121917999		show file
ABCD3	disease_causing	0.997558424554628	simple_aae		affected		G17D	single base exchange	rs121917999		show file
ABCD3	disease_causing	0.997558424554628	simple_aae		affected		G17D	single base exchange	rs121917999		show file
ABCD3	disease_causing	1	without_aae		affected			single base exchange	rs121917999		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.997558424554628 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920599)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:94884084G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCD3

Ensembl transcript ID

ENST00000370214

Genbank transcript ID

NM_002858

UniProt peptide

P28288

alteration type

single base exchange

alteration region

CDS

DNA changes

c.50G>A
cDNA.74G>A
g.152G>A

AA changes

G17D Score: 94 explain score(s)

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

frameshift

known variant

Reference ID: rs121917999
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM920599)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920599)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920599)

regulatory features

Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.833	1
	2.833	1
(flanking)	0.283	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 increased	153	wt: 0.73 / mu: 0.93	wt: GCTGGTGCCGCGTTC mu: GCTGATGCCGCGTTC	TGGT\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000014013

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028127

Ggallus

not conserved

ENSGALG00000005647

GGTA

Trubripes

no homologue

Drerio

all identical

ENSDARG00000015167

Dmelanogaster

no alignment

FBgn0031069

n/a

Celegans

no alignment

C44B7.9

n/a

Xtropicalis

all identical

ENSXETG00000008218

protein features

start (aa)	end (aa)	feature	details
1	124	REGION	Targeting to peroxisomes.	lost
1	199	REGION	Interaction with PEX19.	lost
84	104	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
85	372	DOMAIN	ABC transmembrane type-1.	might get lost (downstream of altered splice site)
106	106	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
126	146	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
145	145	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
175	175	CONFLICT	M -> K (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
191	192	CONFLICT	QD -> LV (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
206	206	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	244	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	260	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
313	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
336	336	CONFLICT	P -> L (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
399	399	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
440	659	DOMAIN	ABC transporter.	might get lost (downstream of altered splice site)
473	480	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
478	478	MUTAGEN	G->R: Decreased ATP-binding affinity.	might get lost (downstream of altered splice site)
503	503	CONFLICT	G -> R (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
542	542	CONFLICT	L -> Q (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
572	572	MUTAGEN	S->I: Decreased ATPase activity.	might get lost (downstream of altered splice site)
616	634	CONFLICT	VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1980 / 1980

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

660 / 660

position of stopcodon in wt / mu cDNA

2004 / 2004

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

25 / 25

chromosome

strand

last intron/exon boundary

1927

theoretical NMD boundary in CDS

1852

length of CDS

1980

coding sequence (CDS) position

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

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

152

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

94884084

original gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

original cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

wildtype AA sequence

MAAFSKYLTA RNSSLAGAAF LLLCLLHKRR RALGLHGKKS GKPPLQNNEK EGKKERAVVD
KVFFSRLIQI LKIMVPRTFC KETGYLVLIA VMLVSRTYCD VWMIQNGTLI ESGIIGRSRK
DFKRYLLNFI AAMPLISLVN NFLKYGLNEL KLCFRVRLTK YLYEEYLQAF TYYKMGNLDN
RIANPDQLLT QDVEKFCNSV VDLYSNLSKP FLDIVLYIFK LTSAIGAQGP ASMMAYLVVS
GLFLTRLRRP IGKMTITEQK YEGEYRYVNS RLITNSEEIA FYNGNKREKQ TVHSVFRKLV
EHLHNFILFR FSMGFIDSII AKYLATVVGY LVVSRPFLDL SHPRHLKSTH SELLEDYYQS
GRMLLRMSQA LGRIVLAGRE MTRLAGFTAR ITELMQVLKD LNHGKYERTM VSQQEKGIEG
VQVIPLIPGA GEIIIADNII KFDHVPLATP NGDVLIRDLN FEVRSGANVL ICGPNGCGKS
SLFRVLGELW PLFGGRLTKP ERGKLFYVPQ RPYMTLGTLR DQVIYPDGRE DQKRKGISDL
VLKEYLDNVQ LGHILEREGG WDSVQDWMDV LSGGEKQRMA MARLFYHKPQ FAILDECTSA
VSVDVEGYIY SHCRKVGITL FTVSHRKSLW KHHEYYLHMD GRGNYEFKQI TEDTVEFGS*

mutated AA sequence

MAAFSKYLTA RNSSLADAAF LLLCLLHKRR RALGLHGKKS GKPPLQNNEK EGKKERAVVD
KVFFSRLIQI LKIMVPRTFC KETGYLVLIA VMLVSRTYCD VWMIQNGTLI ESGIIGRSRK
DFKRYLLNFI AAMPLISLVN NFLKYGLNEL KLCFRVRLTK YLYEEYLQAF TYYKMGNLDN
RIANPDQLLT QDVEKFCNSV VDLYSNLSKP FLDIVLYIFK LTSAIGAQGP ASMMAYLVVS
GLFLTRLRRP IGKMTITEQK YEGEYRYVNS RLITNSEEIA FYNGNKREKQ TVHSVFRKLV
EHLHNFILFR FSMGFIDSII AKYLATVVGY LVVSRPFLDL SHPRHLKSTH SELLEDYYQS
GRMLLRMSQA LGRIVLAGRE MTRLAGFTAR ITELMQVLKD LNHGKYERTM VSQQEKGIEG
VQVIPLIPGA GEIIIADNII KFDHVPLATP NGDVLIRDLN FEVRSGANVL ICGPNGCGKS
SLFRVLGELW PLFGGRLTKP ERGKLFYVPQ RPYMTLGTLR DQVIYPDGRE DQKRKGISDL
VLKEYLDNVQ LGHILEREGG WDSVQDWMDV LSGGEKQRMA MARLFYHKPQ FAILDECTSA
VSVDVEGYIY SHCRKVGITL FTVSHRKSLW KHHEYYLHMD GRGNYEFKQI TEDTVEFGS*

speed

0.39 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
back to results table

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.997558424554628 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920599)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:94884084G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCD3

Ensembl transcript ID

ENST00000315713

Genbank transcript ID

NM_001122674

UniProt peptide

P28288

alteration type

single base exchange

alteration region

CDS

DNA changes

c.50G>A
cDNA.50G>A
g.152G>A

AA changes

G17D Score: 94 explain score(s)

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

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.833	1
	2.833	1
(flanking)	0.283	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 increased	153	wt: 0.73 / mu: 0.93	wt: GCTGGTGCCGCGTTC mu: GCTGATGCCGCGTTC	TGGT\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000014013

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028127

Ggallus

not conserved

ENSGALG00000005647

GGTA

Trubripes

no homologue

Drerio

all identical

ENSDARG00000015167

Dmelanogaster

no alignment

FBgn0031069

n/a

Celegans

no alignment

C44B7.9

n/a

Xtropicalis

all identical

ENSXETG00000008218

protein features

start (aa)	end (aa)	feature	details
1	124	REGION	Targeting to peroxisomes.	lost
1	199	REGION	Interaction with PEX19.	lost
84	104	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
85	372	DOMAIN	ABC transmembrane type-1.	might get lost (downstream of altered splice site)
106	106	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
126	146	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
145	145	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
175	175	CONFLICT	M -> K (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
191	192	CONFLICT	QD -> LV (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
206	206	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	244	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	260	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
313	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
336	336	CONFLICT	P -> L (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
399	399	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
440	659	DOMAIN	ABC transporter.	might get lost (downstream of altered splice site)
473	480	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
478	478	MUTAGEN	G->R: Decreased ATP-binding affinity.	might get lost (downstream of altered splice site)
503	503	CONFLICT	G -> R (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
542	542	CONFLICT	L -> Q (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
572	572	MUTAGEN	S->I: Decreased ATPase activity.	might get lost (downstream of altered splice site)
616	634	CONFLICT	VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

711 / 711

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

237 / 237

position of stopcodon in wt / mu cDNA

711 / 711

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

1 / 1

chromosome

strand

last intron/exon boundary

685

theoretical NMD boundary in CDS

634

length of CDS

711

coding sequence (CDS) position

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

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

152

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

94884084

original gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

original cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

wildtype AA sequence

mutated AA sequence

speed

0.84 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.997558424554628 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920599)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:94884084G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCD3

Ensembl transcript ID

ENST00000394233

Genbank transcript ID

N/A

UniProt peptide

P28288

alteration type

single base exchange

alteration region

CDS

DNA changes

c.50G>A
cDNA.152G>A
g.152G>A

AA changes

G17D Score: 94 explain score(s)

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

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.833	1
	2.833	1
(flanking)	0.283	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 increased	153	wt: 0.73 / mu: 0.93	wt: GCTGGTGCCGCGTTC mu: GCTGATGCCGCGTTC	TGGT\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000014013

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028127

Ggallus

not conserved

ENSGALG00000005647

GGTA

Trubripes

no homologue

Drerio

all identical

ENSDARG00000015167

Dmelanogaster

no alignment

FBgn0031069

n/a

Celegans

no alignment

C44B7.9

n/a

Xtropicalis

all identical

ENSXETG00000008218

protein features

start (aa)	end (aa)	feature	details
1	124	REGION	Targeting to peroxisomes.	lost
1	199	REGION	Interaction with PEX19.	lost
84	104	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
85	372	DOMAIN	ABC transmembrane type-1.	might get lost (downstream of altered splice site)
106	106	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
126	146	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
145	145	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
175	175	CONFLICT	M -> K (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
191	192	CONFLICT	QD -> LV (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
206	206	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	244	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	260	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
313	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
336	336	CONFLICT	P -> L (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
399	399	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
440	659	DOMAIN	ABC transporter.	might get lost (downstream of altered splice site)
473	480	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
478	478	MUTAGEN	G->R: Decreased ATP-binding affinity.	might get lost (downstream of altered splice site)
503	503	CONFLICT	G -> R (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
542	542	CONFLICT	L -> Q (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
572	572	MUTAGEN	S->I: Decreased ATPase activity.	might get lost (downstream of altered splice site)
616	634	CONFLICT	VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1650 / 1650

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

550 / 550

position of stopcodon in wt / mu cDNA

1752 / 1752

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

103 / 103

chromosome

strand

last intron/exon boundary

1675

theoretical NMD boundary in CDS

1522

length of CDS

1650

coding sequence (CDS) position

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

152

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

152

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

94884084

original gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

original cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

wildtype AA sequence

MAAFSKYLTA RNSSLAGAAF LLLCLLHKRR RALGLHGKKS GKPPLQNNEK EGKKERAVVD
KVFFSRLIQI LKIMVPRTFC KETGYLVLIA VMLVSRTYCD VWMIQNGTLI ESGIIGRSRK
DFKRYLLNFI AAMPLISLVN NFLKYGLNEL KLCFRVRLTK YLYEEYLQAF TYYKMGNLDN
RIANPDQLLT QDVEKFCNSV VDLYSNLSKP FLDIVLYIFK LTSAIGAQGP ASMMAYLVVS
GLFLTRLRRP IGKMTITEQK YEGEYRYVNS RLITNSFTAR ITELMQVLKD LNHGKYERTM
VSQQEKGIEG VQVIPLIPGA GEIIIADNII KFDHVPLATP NGDVLIRDLN FEVRSGANVL
ICGPNGCGKS SLFRVLGELW PLFGGRLTKP ERGKLFYVPQ RPYMTLGTLR DQVIYPDGRE
DQKRKGISDL VLKEYLDNVQ LGHILEREGG WDSVQDWMDV LSGGEKQRMA MARLFYHKPQ
FAILDECTSA VSVDVEGYIY SHCRKVGITL FTVSHRKSLW KHHEYYLHMD GRGNYEFKQI
TEDTVEFGS*

mutated AA sequence

MAAFSKYLTA RNSSLADAAF LLLCLLHKRR RALGLHGKKS GKPPLQNNEK EGKKERAVVD
KVFFSRLIQI LKIMVPRTFC KETGYLVLIA VMLVSRTYCD VWMIQNGTLI ESGIIGRSRK
DFKRYLLNFI AAMPLISLVN NFLKYGLNEL KLCFRVRLTK YLYEEYLQAF TYYKMGNLDN
RIANPDQLLT QDVEKFCNSV VDLYSNLSKP FLDIVLYIFK LTSAIGAQGP ASMMAYLVVS
GLFLTRLRRP IGKMTITEQK YEGEYRYVNS RLITNSFTAR ITELMQVLKD LNHGKYERTM
VSQQEKGIEG VQVIPLIPGA GEIIIADNII KFDHVPLATP NGDVLIRDLN FEVRSGANVL
ICGPNGCGKS SLFRVLGELW PLFGGRLTKP ERGKLFYVPQ RPYMTLGTLR DQVIYPDGRE
DQKRKGISDL VLKEYLDNVQ LGHILEREGG WDSVQDWMDV LSGGEKQRMA MARLFYHKPQ
FAILDECTSA VSVDVEGYIY SHCRKVGITL FTVSHRKSLW KHHEYYLHMD GRGNYEFKQI
TEDTVEFGS*

speed

0.31 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.997558424554628 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM920599)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:94884084G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCD3

Ensembl transcript ID

ENST00000454898

Genbank transcript ID

N/A

UniProt peptide

P28288

alteration type

single base exchange

alteration region

CDS

DNA changes

c.50G>A
cDNA.116G>A
g.152G>A

AA changes

G17D Score: 94 explain score(s)

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

frameshift

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.833	1
	2.833	1
(flanking)	0.283	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 increased	153	wt: 0.73 / mu: 0.93	wt: GCTGGTGCCGCGTTC mu: GCTGATGCCGCGTTC	TGGT\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000014013

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000028127

Ggallus

not conserved

ENSGALG00000005647

GGTA

Trubripes

no homologue

Drerio

all identical

ENSDARG00000015167

Dmelanogaster

no alignment

FBgn0031069

n/a

Celegans

no alignment

C44B7.9

n/a

Xtropicalis

all identical

ENSXETG00000008218

protein features

start (aa)	end (aa)	feature	details
1	124	REGION	Targeting to peroxisomes.	lost
1	199	REGION	Interaction with PEX19.	lost
84	104	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
85	372	DOMAIN	ABC transmembrane type-1.	might get lost (downstream of altered splice site)
106	106	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
126	146	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
145	145	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
175	175	CONFLICT	M -> K (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
191	192	CONFLICT	QD -> LV (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
206	206	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	244	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	260	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
313	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
336	336	CONFLICT	P -> L (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
399	399	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
440	659	DOMAIN	ABC transporter.	might get lost (downstream of altered splice site)
473	480	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
478	478	MUTAGEN	G->R: Decreased ATP-binding affinity.	might get lost (downstream of altered splice site)
503	503	CONFLICT	G -> R (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
542	542	CONFLICT	L -> Q (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
572	572	MUTAGEN	S->I: Decreased ATPase activity.	might get lost (downstream of altered splice site)
616	634	CONFLICT	VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2052 / 2052

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

684 / 684

position of stopcodon in wt / mu cDNA

2118 / 2118

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

67 / 67

chromosome

strand

last intron/exon boundary

2041

theoretical NMD boundary in CDS

1924

length of CDS

2052

coding sequence (CDS) position

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

116

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

152

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

94884084

original gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

original cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

wildtype AA sequence

MAAFSKYLTA RNSSLAGAAF LLLCLLHKRR RALGLHGYFM ETWREKSDEV MGELTDHVTH
CKKSGKPPLQ NNEKEGKKER AVVDKVFFSR LIQILKIMVP RTFCKETGYL VLIAVMLVSR
TYCDVWMIQN GTLIESGIIG RSRKDFKRYL LNFIAAMPLI SLVNNFLKYG LNELKLCFRV
RLTKYLYEEY LQAFTYYKMG NLDNRIANPD QLLTQDVEKF CNSVVDLYSN LSKPFLDIVL
YIFKLTSAIG AQGPASMMAY LVVSGLFLTR LRRPIGKMTI TEQKYEGEYR YVNSRLITNS
EEIAFYNGNK REKQTVHSVF RKLVEHLHNF ILFRFSMGFI DSIIAKYLAT VVGYLVVSRP
FLDLSHPRHL KSTHSELLED YYQSGRMLLR MSQALGRIVL AGREMTRLAG FTARITELMQ
VLKDLNHGKY ERTMVSQQEK GIEGVQVIPL IPGAGEIIIA DNIIKFDHVP LATPNGDVLI
RDLNFEVRSG ANVLICGPNG CGKSSLFRVL GELWPLFGGR LTKPERGKLF YVPQRPYMTL
GTLRDQVIYP DGREDQKRKG ISDLVLKEYL DNVQLGHILE REGGWDSVQD WMDVLSGGEK
QRMAMARLFY HKPQFAILDE CTSAVSVDVE GYIYSHCRKV GITLFTVSHR KSLWKHHEYY
LHMDGRGNYE FKQITEDTVE FGS*

mutated AA sequence

MAAFSKYLTA RNSSLADAAF LLLCLLHKRR RALGLHGYFM ETWREKSDEV MGELTDHVTH
CKKSGKPPLQ NNEKEGKKER AVVDKVFFSR LIQILKIMVP RTFCKETGYL VLIAVMLVSR
TYCDVWMIQN GTLIESGIIG RSRKDFKRYL LNFIAAMPLI SLVNNFLKYG LNELKLCFRV
RLTKYLYEEY LQAFTYYKMG NLDNRIANPD QLLTQDVEKF CNSVVDLYSN LSKPFLDIVL
YIFKLTSAIG AQGPASMMAY LVVSGLFLTR LRRPIGKMTI TEQKYEGEYR YVNSRLITNS
EEIAFYNGNK REKQTVHSVF RKLVEHLHNF ILFRFSMGFI DSIIAKYLAT VVGYLVVSRP
FLDLSHPRHL KSTHSELLED YYQSGRMLLR MSQALGRIVL AGREMTRLAG FTARITELMQ
VLKDLNHGKY ERTMVSQQEK GIEGVQVIPL IPGAGEIIIA DNIIKFDHVP LATPNGDVLI
RDLNFEVRSG ANVLICGPNG CGKSSLFRVL GELWPLFGGR LTKPERGKLF YVPQRPYMTL
GTLRDQVIYP DGREDQKRKG ISDLVLKEYL DNVQLGHILE REGGWDSVQD WMDVLSGGEK
QRMAMARLFY HKPQFAILDE CTSAVSVDVE GYIYSHCRKV GITLFTVSHR KSLWKHHEYY
LHMDGRGNYE FKQITEDTVE FGS*

speed

0.42 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known disease mutation at this position (HGMD CM920599)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:94884084G>AN/A show variant in all transcripts IGV

HGNC symbol

ABCD3

Ensembl transcript ID

ENST00000536817

Genbank transcript ID

N/A

UniProt peptide

P28288

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.114G>A
g.152G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.833	1
	2.833	1
(flanking)	0.283	1

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

splice sites

splice site change before start ATG (at aa -43) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	153	wt: 0.73 / mu: 0.93	wt: GCTGGTGCCGCGTTC mu: GCTGATGCCGCGTTC	TGGT\|gccg

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	124	REGION	Targeting to peroxisomes.	might get lost (downstream of altered splice site)
1	199	REGION	Interaction with PEX19.	might get lost (downstream of altered splice site)
12	12	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
84	104	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
85	372	DOMAIN	ABC transmembrane type-1.	might get lost (downstream of altered splice site)
106	106	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
126	146	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
145	145	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
175	175	CONFLICT	M -> K (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
191	192	CONFLICT	QD -> LV (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
206	206	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
224	244	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
260	260	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
313	333	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
336	336	CONFLICT	P -> L (in Ref. 3; CAA58470).	might get lost (downstream of altered splice site)
399	399	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
440	659	DOMAIN	ABC transporter.	might get lost (downstream of altered splice site)
473	480	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
478	478	MUTAGEN	G->R: Decreased ATP-binding affinity.	might get lost (downstream of altered splice site)
503	503	CONFLICT	G -> R (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
542	542	CONFLICT	L -> Q (in Ref. 2; CAA41416).	might get lost (downstream of altered splice site)
572	572	MUTAGEN	S->I: Decreased ATPase activity.	might get lost (downstream of altered splice site)
616	634	CONFLICT	VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470).	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

247 / 247

chromosome

strand

last intron/exon boundary

1930

theoretical NMD boundary in CDS

1633

length of CDS

1761

coding sequence (CDS) position

N/A

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

114

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

152

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

94884084

original gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered gDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

original cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCT

altered cDNA sequence snippet

GCGAAACTCCTCGCTGGCTGATGCCGCGTTCCTGCTGCTCT

wildtype AA sequence

MVPRTFCKET GYLVLIAVML VSRTYCDVWM IQNGTLIESG IIGRSRKDFK RYLLNFIAAM
PLISLVNNFL KYGLNELKLC FRVRLTKYLY EEYLQAFTYY KMGNLDNRIA NPDQLLTQDV
EKFCNSVVDL YSNLSKPFLD IVLYIFKLTS AIGAQGPASM MAYLVVSGLF LTRLRRPIGK
MTITEQKYEG EYRYVNSRLI TNSEEIAFYN GNKREKQTVH SVFRKLVEHL HNFILFRFSM
GFIDSIIAKY LATVVGYLVV SRPFLDLSHP RHLKSTHSEL LEDYYQSGRM LLRMSQALGR
IVLAGREMTR LAGFTARITE LMQVLKDLNH GKYERTMVSQ QEKGIEGVQV IPLIPGAGEI
IIADNIIKFD HVPLATPNGD VLIRDLNFEV RSGANVLICG PNGCGKSSLF RVLGELWPLF
GGRLTKPERG KLFYVPQRPY MTLGTLRDQV IYPDGREDQK RKGISDLVLK EYLDNVQLGH
ILEREGGWDS VQDWMDVLSG GEKQRMAMAR LFYHKPQFAI LDECTSAVSV DVEGYIYSHC
RKVGITLFTV SHRKSLWKHH EYYLHMDGRG NYEFKQITED TVEFGS*

mutated AA sequence

N/A

speed

0.22 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems