MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000218104
MT speed 0.05 s - this script 2.508033 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000218104(MANE Select)	ABCD1	Deleterious	56\|44	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

23:153743334G>A_1_ENST00000218104

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 56|44 (del | benign) ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:153743334G>A (GRCh38)

Gene symbol

ABCD1

Gene constraints

no data

Ensembl transcript ID

ENST00000218104.6

Genbank transcript ID

NM_000033 (exact from MANE)

UniProt / AlphaMissense peptide

ABCD1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1979G>A
g.18479G>A

AA changes

AAE:	R660Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1557055340
gnomAD	homo-/hemizygous (A/A)	heterozygous	allele carriers
	2	3	5

Protein conservation

Species	Match	AA	Alignment
Human		660	D	A	G	I	A	L	L	S	I	T	H	R	P	S	L	W	K	Y	H	T	H	L	L	Q
mutated	all conserved	660	D	A	G	I	A	L	L	S	I	T	H	Q	P	S	L	W	K	Y	H	T	H	L	L
Ptroglodytes	all identical	660	D	A	G	I	A	L	L	S	I	T	H	R	P	S	L	W	K	Y	H	T	H	L	L
Mmulatta	all identical	660	D	A	G	I	A	L	L	S	I	T	H	R	P	S	L	W	K	Y	H	T	H	L	L
Fcatus	all identical	660	D	A	G	I	A	L	L	S	I	T	H	R	P	S	L	W	K	Y	H	T	H	L	L
Mmusculus	all identical	660	D	A	G	I	A	L	L	S	I	T	H	R	P	S	L	W	K	Y	H	T	H	L	L
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	all identical	694										T	H	R	P	T	L	W	K	Y	H	T	H	I	L
Celegans	all identical	654	D	S	G	I	T	L	L	T	V	T	H	R	P	S	L	W	K	F	H	T	H	L	L
Xtropicalis	all identical	665	D	A	G	I	A	L	L	S	I	T	H	R	P	S	L	W	K	Y	H	T	H	L	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	745	CHAIN		lost
474	700	DOMAIN	ABC transporter	lost
658	745	REGION	Required	lost

Phylogenetic conservation

	PhyloP	PhastCons

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

1

Original gDNA sequence snippet

CCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGC

Altered gDNA sequence snippet

CCTGCTCTCCATCACCCACCAGCCCTCCCTGTGGTAGGTGC

Original cDNA sequence snippet

CCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGAAATACC

Altered cDNA sequence snippet

CCTGCTCTCCATCACCCACCAGCCCTCCCTGTGGAAATACC

Wildtype AA sequence

MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV
AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR
CIVRKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY
YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT
AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE
VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES
DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH
EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP
IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF
YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD
WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR
PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL
GEAVAPAHVP APSPQGPGGL QGAST*

Mutated AA sequence

MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV
AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR
CIVRKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY
YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT
AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE
VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES
DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH
EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP
IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF
YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD
WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHQ
PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL
GEAVAPAHVP APSPQGPGGL QGAST*

Position of stopcodon in wt / mu CDS

2238 / 2238

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

746 / 746

Position of stopcodon in wt / mu cDNA

2649 / 2649

Position of start ATG in wt / mu cDNA

412 / 412

Last intron/exon boundary

2402

Theoretical NMD boundary in CDS

1940

Length of CDS

2238

Coding sequence (CDS) position

1979

cDNA position

2390

gDNA position

18479

Chromosomal position

153743334

Speed

0.05 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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