MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000263440
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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
ENST00000263440(MANE Select)	ALG6	Deleterious	10\|0	complex_aae		No	Yes		W94*	Single base exchange		NMD	Amino acid sequence changed Known disease mutation: ClinVar ID 2799271 (pathogenic) NMD Protein features (might be) affected

MutationT@ster 2025

Variant:

1:63404476G>A_1_ENST00000263440

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 2799271 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:63404476G>A (GRCh38)

Gene symbol

ALG6

Gene constraints

LOEUF: 0.89, LOF (oe): 0.63, misssense (oe): 0.83, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000263440.6

Genbank transcript ID

NM_013339 (exact from MANE)

UniProt / AlphaMissense peptide

ALG6_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.281G>A
g.36902G>A

AA changes

W94* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

ALG6-congenital disorder of glycosylation 1C

pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs1644480834
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		94	C	A	Y	V	A	K	F	I	N	P	D	W	I	A	L	H	T	S	R	G	Y	E	S	Q	A	H	K	L	F	M	R	T	T	V	L	I	A	D	L	L	I	Y	I	P	A	V	V	L	Y	C	C	C	L	K	E	I	S	T	K	K	K	I	A	N	A	L	C	I	L	L	Y	P	G	L	I	L	I	D	Y	G	H	F	Q	Y	N	S	V	S	L	G	F	A	L	W	G	V	L	G	I	S	C	D	C	D	L	L	G	S	L	A	F	C	L	A	I	N	Y	K	Q	M	E
mutated	no alignment	n/a
Ptroglodytes	all identical	94	C	A	Y	V	A	K	F	I	N	P	D	W	I	A	L	H	T	S	R	G	Y	E	S	Q	A	H	K	L	F	M	R	T	T	V	L	I	A	D	L	L	I	Y	I	P	A	V	V	L	Y	C	C	C	L	K	E	I	S	T	K	K	K	I	A	N	A	L	C	I	L	L	Y	P	G	L	I	L	I	D	Y	G	H	F	Q	Y	N	S	V	S	L	G	F	A	L	W	G	V	L	G
Mmulatta	all conserved	94	C	A	Y	V	A	K	F	I	N	P	D	W	I	A	L	H	T	S	R	G	Y	E	S	Q	A	H	K	L	F	M	R	T	T	V	L	I	A	D	L	L	I	Y	I	P	A	V	V	L	Y	C	C	C	L	K	D	I	S	T	K	K	K	I	A	N	A	L	C	I	L	L	Y	P	G	L	I	L	I	D	Y	G	H	F	Q	Y	N	S	V	S	L	G	F	A	L	W	G	V	L	G
Fcatus	all conserved	94	C	A	Y	V	A	K	F	I	N	P	D	W	I	A	L	H	T	S	R	G	Y	E	S	Q	A	H	K	L	F	M	R	T	T	V	L	I	A	D	L	L	I	Y	I	P	A	V	V	L	Y	C	C	C	L	K	E	I	S	T	K	K	K	V	A	N	A	L	C	I	L	L	Y	P	G	L	I	L	I	D	Y	G	H	F	Q	Y	N	S	V	S	L	G	F	A	L	W	G	V	L	G
Mmusculus	partly conserved	94	C	A	Y	V	A	K	F	I	N	P	D	W	V	A	L	H	T	S	R	G	Y	E	S	Q	A	H	K	L	F	M	R	A	T	V	L	A	A	D	L	L	I	Y	V	P	A	V	L	L	Y	C	Y	S	L	K	E	I	S	P	K	R	K	I	A	S	A	L	C	I	L	L	Y	P	G	L	I	L	I	D	Y	G	H	F	Q	Y	N	S	V	S	L	G	F	A	L	W	G	V	L	G
Ggallus	partly conserved	125	C	A	Y	V	A	K	L	I	N	P	D	W	I	A	L	H	T	S	R	G	Y	E	S	Q	S	H	K	L	F	M	R	T	T	V	F	V	A	D	L	L	I	Y	I	P	A	V	I	L	Y	C	C	S	L	K	E	T	S	T	K	K	K	V	S	S	A	L	C	I	L	L	Y	P	G	L	I	L	I	D	H	G	H	F	Q	Y	N	S	V	S	L	G	F	A	L	W	G	V	L	C
Trubripes	partly conserved	95	C	A	Y	L	A	K	F	I	N	P	E	W	V	E	L	H	K	S	R	G	Y	E	S	P	A	H	K	L	F	M	R	T	TGTVNI	R	E	S	L	H	G	Q	S	R	R	L	T	Q	H	N	F	L	F	I	P	K	V	L	L	A	D	L	L	I	Y	I	P	A	V	V	L	Y	C	L	Y	L	T	E	G	T	A	R	K	Q	V	S	I	L	L	C	F	L	L	Y	P
Drerio	no homologue
Dmelanogaster	partly conserved	92	V	G	R	I	G	A	S	I	D	P	R	F	V	E	L	H	K	S	R	G	F	E	S	K	E	H	K	R	F	M	R	A	T	V	V	S	A	D	V	L	I	Y	L	P	A	M	L	L	L	A	Y	S	L	D	K	A	F	R	S	D	D	K	L	F	L	F	T	L	V	A	A	Y	P	G	Q	T	L	I	D	N	G	H	F	Q	Y	N	N	I	S	L	G	F	A	A	V	A	I	A	A	I	L	R	R	R	F	Y	A	A	A	F
Celegans	partly conserved	136	L	G	V	I	S	N	K	I	N	K	K	W	V	E	L	T	T	S	R	G	Y	E	S	I	A	H	K	L	F	M	R	L	S	A	I	I	P	F	Y	I	F	Y	L	P	P	L	I	F	Y	F	T	R	S	K	K	M	S	-	-	-	P	I	L	Y	A	L	A	-	L	L	Y	P	S	L	L	V	I	D	N	G	H	F	Q	Y	N	S	I	S	L	G	L	F	L	A	T	Y	M	F	L	T	K	N
Xtropicalis	partly conserved	141	C	G	Q	I	A	H	L	L	N	P	D	W	V	A	L	N	A	S	R	G	Y	E	S	L	Q	H	K	L	F	M	R	A	T	V	L	V	A	D	L	I	I	Y	I	P	A	V	I	V	Y	C	F	C	M	R	E	I	P	S	K	K	K	I	S	S	L	C	C	I	L	L	Y	P	G	L	I	L	I	D	Y	G	H	F	Q	Y	N	S	V	S	L	G	F	A	L	W	G	V	I	A

Protein features

Start (aa)	End (aa)	Feature	Details
1	507	CHAIN		lost
25	114	TOPO_DOM	Lumenal	lost
115	135	TRANSMEM	Helical	lost
136	143	TOPO_DOM	Cytoplasmic	lost
144	164	TRANSMEM	Helical	lost
165	172	TOPO_DOM	Lumenal	lost
173	193	TRANSMEM	Helical	lost
194	226	TOPO_DOM	Cytoplasmic	lost
227	247	TRANSMEM	Helical	lost
248	297	TOPO_DOM	Lumenal	lost
298	318	TRANSMEM	Helical	lost
319	323	TOPO_DOM	Cytoplasmic	lost
324	344	TRANSMEM	Helical	lost
345	361	TOPO_DOM	Lumenal	lost
362	382	TRANSMEM	Helical	lost
383	387	TOPO_DOM	Cytoplasmic	lost
388	408	TRANSMEM	Helical	lost
409	437	TOPO_DOM	Lumenal	lost
438	458	TRANSMEM	Helical	lost
459	472	TOPO_DOM	Cytoplasmic	lost
473	493	TRANSMEM	Helical	lost
494	507	TOPO_DOM	Lumenal	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.314	1
	7.244	1
(flanking)	7.244	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

AAAGTTTATAAATCCAGACTGGATTGCTCTCCATACATCAC

Altered gDNA sequence snippet

AAAGTTTATAAATCCAGACTAGATTGCTCTCCATACATCAC

Original cDNA sequence snippet

AAAGTTTATAAATCCAGACTGGATTGCTCTCCATACATCAC

Altered cDNA sequence snippet

AAAGTTTATAAATCCAGACTAGATTGCTCTCCATACATCAC

Wildtype AA sequence

MEKWYLMTVV VLIGLTVRWT VSLNSYSGAG KPPMFGDYEA QRHWQEITFN LPVKQWYFNS
SDNNLQYWGL DYPPLTAYHS LLCAYVAKFI NPDWIALHTS RGYESQAHKL FMRTTVLIAD
LLIYIPAVVL YCCCLKEIST KKKIANALCI LLYPGLILID YGHFQYNSVS LGFALWGVLG
ISCDCDLLGS LAFCLAINYK QMELYHALPF FCFLLGKCFK KGLKGKGFVL LVKLACIVVA
SFVLCWLPFF TEREQTLQVL RRLFPVDRGL FEDKVANIWC SFNVFLKIKD ILPRHIQLIM
SFCSTFLSLL PACIKLILQP SSKGFKFTLV SCALSFFLFS FQVHEKSILL VSLPVCLVLS
EIPFMSTWFL LVSTFSMLPL LLKDELLMPS VVTTMAFFIA CVTSFSIFEK TSEEELQLKS
FSISVRKYLP CFTFLSRIIQ YLFLISVITM VLLTLMTVTL DPPQKLPDLF SVLVCFVSCL
NFLFFLVYFN IIIMWDSKSG RNQKKIS*

Mutated AA sequence

MEKWYLMTVV VLIGLTVRWT VSLNSYSGAG KPPMFGDYEA QRHWQEITFN LPVKQWYFNS
SDNNLQYWGL DYPPLTAYHS LLCAYVAKFI NPD*

Position of stopcodon in wt / mu CDS

1524 / 282

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

508 / 94

Position of stopcodon in wt / mu cDNA

1792 / 550

Position of start ATG in wt / mu cDNA

269 / 269

Last intron/exon boundary

1594

Theoretical NMD boundary in CDS

1275

Length of CDS

1524

Coding sequence (CDS) position

281

cDNA position

549

gDNA position

36902

Chromosomal position

63404476

Speed

0.04 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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