MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000263440
MT speed 0.07 s - this script 2.530287 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
ENST00000263440(MANE Select)	ALG6	Deleterious	70\|30	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:63370983G>T_1_ENST00000263440

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 70|30 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:63370983G>T (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.6G>T
g.3409G>T

AA changes

AAE:	E2D	?
Score:	45

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA
Human		2	M	E	K	W	Y	L	M	T	V	V	V	L	I	G
mutated	all conserved	2	M	D	K	W	Y	L	M	T	V	V	V	L	I	G	L	T	V	R	W	T	V	S
Ptroglodytes	all identical	2	M	E	K	W	Y	L	M	T	I	V	V	L	I	G	L	T	V	R	W	T	V	S
Mmulatta	all identical	2	M	E	K	W	Y	L	M	T	I	V	V	L	I	G	L	T	V	R	W	T	V	S
Fcatus	all identical	2	M	E	K	W	H	L	M	T	I	V	V	L	I	G	L	T	V	R	W	T	V	S
Mmusculus	all identical	2	M	E	S	W	P	W	M	A	V	V	V	L	L	G	L	T	V	R	W	T	V	S
Ggallus	all identical	33	M	E	K	W	S	L	M	T	I	T	V	L	L	A	L	T	V	R	W	T	V	S
Trubripes	all conserved	3	M	Q	T	W	S	L	V	S	I	C	V	L	L	G	V	V	V	R	W	G	V	S
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no alignment	n/a
Xtropicalis	all identical	49	M	E	T	C	S	L	A	A	L	A	V	L	L	A	L	Y	V	R	W	T	V	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	3	TOPO_DOM	Cytoplasmic	lost
1	507	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.881	1
	0.003	0.986
(flanking)	2.39	0.995

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

TAAATTTGAAGAACTATGGAGAAATGGTACTTGATGACAGT

Altered gDNA sequence snippet

TAAATTTGAAGAACTATGGATAAATGGTACTTGATGACAGT

Original cDNA sequence snippet

TAAATTTGAAGAACTATGGAGAAATGGTACTTGATGACAGT

Altered cDNA sequence snippet

TAAATTTGAAGAACTATGGATAAATGGTACTTGATGACAGT

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

MDKWYLMTVV 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*

Position of stopcodon in wt / mu CDS

1524 / 1524

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

508 / 508

Position of stopcodon in wt / mu cDNA

1792 / 1792

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

6

cDNA position

274

gDNA position

3409

Chromosomal position

63370983

Speed

0.07 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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