MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000449549
MT speed 0.05 s - this script 2.506759 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
ENST00000449549(MANE Select)	B3GNT9	Deleterious	76\|24	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

16:67150047C>G_1_ENST00000449549

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67150047C>G (GRCh38)

Gene symbol

B3GNT9

Gene constraints

LOEUF: 1.94, LOF (oe): 1.75, misssense (oe): 1.34, synonymous (oe): 1.52 ? (gnomAD)

Ensembl transcript ID

ENST00000449549.4

Genbank transcript ID

NM_033309 (exact from MANE)

UniProt / AlphaMissense peptide

B3GN9_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.439G>C
g.952G>C

AA changes

AAE:	G147R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs952374866
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	8	8

Protein conservation

Species	Match	AA	Alignment
Human		147	R	Q	T	W	G	A	E	G	R	V	Q	G	A	L	V	R	R	V	F	L	L	G	V	P
mutated	not conserved	147	R	Q	T	W	G	A	E	G	R	V	Q	R	A	L	V	R	R	V	F	L	L	G	V
Ptroglodytes	all identical	147	R	Q	T	W	G	A	E	G	R	V	Q	G	A	L	V	R	R	V	F	L	L	G	V
Mmulatta	all identical	146	R	Q	T	W	G	A	E	G	R	V	Q	G	A	L	V	R	R	V	F	L	L	G	V
Fcatus	all identical	214	R	Q	T	W	G	A	E	G	R	V	Q	G	A	L	V	R	R	V	F	L	L	G	V
Mmusculus	all identical	149	R	Q	T	W	G	A	E	G	R	V	Q	G	A	L	V	R	R	V	F	L	L	G	V
Ggallus	all identical	216	R	K	T	W	G	R	E	G	L	V	N	G	E	Q	I	Q	R	V	F	L	L	G	T
Trubripes	not conserved	395	R	G	T	W	G	R	E	G	I	F	R	D	G	LS	I	R	T	I	F	L	L	G	A
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	164	R	K	T	W	G	R	E	G	M	I	S	G	V	R	V	Q	R	V	F	L	L	G	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	402	CHAIN		lost
28	402	TOPO_DOM	Lumenal	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.838	0.989
	4.787	0.995
(flanking)	-0.28	0.258

?

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

16

Strand

-1

Original gDNA sequence snippet

GCGCGGAGGGTCGCGTGCAGGGGGCGCTGGTGCGCCGCGTG

Altered gDNA sequence snippet

GCGCGGAGGGTCGCGTGCAGCGGGCGCTGGTGCGCCGCGTG

Original cDNA sequence snippet

GCGCGGAGGGTCGCGTGCAGGGGGCGCTGGTGCGCCGCGTG

Altered cDNA sequence snippet

GCGCGGAGGGTCGCGTGCAGCGGGCGCTGGTGCGCCGCGTG

Wildtype AA sequence

MRRRLRLRRD ALLTLLLGAS LGLLLYAQRD GAAPTASAPR GRGRAAPRPT PGPRAFQLPD
AGAAPPAYEG DTPAPPTPTG PFDFARYLRA KDQRRFPLLI NQPHKCRGDG APGGRPDLLI
AVKSVAEDFE RRQAVRQTWG AEGRVQGALV RRVFLLGVPR GAGSGGADEV GEGARTHWRA
LLRAESLAYA DILLWAFDDT FFNLTLKEIH FLAWASAFCP DVRFVFKGDA DVFVNVGNLL
EFLAPRDPAQ DLLAGDVIVH ARPIRTRASK YYIPEAVYGL PAYPAYAGGG GFVLSGATLH
RLAGACAQVE LFPIDDVFLG MCLQRLRLTP EPHPAFRTFG IPQPSAAPHL STFDPCFYRE
LVVVHGLSAA DIWLMWRLLH GPHGPACAHP QPVAAGPFQW DS*

Mutated AA sequence

MRRRLRLRRD ALLTLLLGAS LGLLLYAQRD GAAPTASAPR GRGRAAPRPT PGPRAFQLPD
AGAAPPAYEG DTPAPPTPTG PFDFARYLRA KDQRRFPLLI NQPHKCRGDG APGGRPDLLI
AVKSVAEDFE RRQAVRQTWG AEGRVQRALV RRVFLLGVPR GAGSGGADEV GEGARTHWRA
LLRAESLAYA DILLWAFDDT FFNLTLKEIH FLAWASAFCP DVRFVFKGDA DVFVNVGNLL
EFLAPRDPAQ DLLAGDVIVH ARPIRTRASK YYIPEAVYGL PAYPAYAGGG GFVLSGATLH
RLAGACAQVE LFPIDDVFLG MCLQRLRLTP EPHPAFRTFG IPQPSAAPHL STFDPCFYRE
LVVVHGLSAA DIWLMWRLLH GPHGPACAHP QPVAAGPFQW DS*

Position of stopcodon in wt / mu CDS

1209 / 1209

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

403 / 403

Position of stopcodon in wt / mu cDNA

1529 / 1529

Position of start ATG in wt / mu cDNA

321 / 321

Last intron/exon boundary

134

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

1209

Coding sequence (CDS) position

439

cDNA position

759

gDNA position

952

Chromosomal position

67150047

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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