MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000290541
MT speed 0.04 s - this script 2.506273 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
ENST00000290541(MANE Select)	PSMB4	Benign	35\|65	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:151399597T>C_1_ENST00000290541

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 35|65 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:151399597T>C (GRCh38)

Gene symbol

PSMB4

Gene constraints

LOEUF: 0.66, LOF (oe): 0.43, misssense (oe): 0.89, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000290541.7

Genbank transcript ID

NM_002796 (exact from MANE)

UniProt / AlphaMissense peptide

PSB4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.10T>C
g.38T>C

AA changes

AAE:	F4L	?
Score:	22

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA
Human		4	M	E	A	F	L	G	S	R	S	G	L	W	A	G	G	P
mutated	not conserved	4	M	E	A	L	L	G	S	R	S	G	L	W	A	G	G	P	A	P	G	Q	F	Y
Ptroglodytes	all identical	4	M	E	A	F	L	G	S	R	S	G	L	W	A	G	C	P	A	P	G	Q	F	Y
Mmulatta	all identical	4	M	E	A	F	L	G	S	R	S	G	L	W	A	G	G	P	A	P	G	Q	F	Y
Fcatus	all identical	4	M	E	A	F	L	E	S	R	S	S	V	W	A	G	V	P	A	P	G	Q	F	Y
Mmusculus	all identical	4	M	E	A	F	W	E	S	R	A	G	H	W	A	G	G	P	A	P	G	Q	F	Y
Ggallus	no alignment	n/a
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no alignment	n/a
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	45	PROPEP		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.06	0
	-1.417	0
(flanking)	1.4	0.003

?

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

CCGTGACTAAGATGGAAGCGTTTTTGGGGTCGCGGTCCGGA

Altered gDNA sequence snippet

CCGTGACTAAGATGGAAGCGCTTTTGGGGTCGCGGTCCGGA

Original cDNA sequence snippet

CCGTGACTAAGATGGAAGCGTTTTTGGGGTCGCGGTCCGGA

Altered cDNA sequence snippet

CCGTGACTAAGATGGAAGCGCTTTTGGGGTCGCGGTCCGGA

Wildtype AA sequence

MEAFLGSRSG LWAGGPAPGQ FYRIPSTPDS FMDPASALYR GPITRTQNPM VTGTSVLGVK
FEGGVVIAAD MLGSYGSLAR FRNISRIMRV NNSTMLGASG DYADFQYLKQ VLGQMVIDEE
LLGDGHSYSP RAIHSWLTRA MYSRRSKMNP LWNTMVIGGY ADGESFLGYV DMLGVAYEAP
SLATGYGAYL AQPLLREVLE KQPVLSQTEA RDLVERCMRV LYYRDARSYN RFQIATVTEK
GVEIEGPLST ETNWDIAHMI SGFE*

Mutated AA sequence

MEALLGSRSG LWAGGPAPGQ FYRIPSTPDS FMDPASALYR GPITRTQNPM VTGTSVLGVK
FEGGVVIAAD MLGSYGSLAR FRNISRIMRV NNSTMLGASG DYADFQYLKQ VLGQMVIDEE
LLGDGHSYSP RAIHSWLTRA MYSRRSKMNP LWNTMVIGGY ADGESFLGYV DMLGVAYEAP
SLATGYGAYL AQPLLREVLE KQPVLSQTEA RDLVERCMRV LYYRDARSYN RFQIATVTEK
GVEIEGPLST ETNWDIAHMI SGFE*

Position of stopcodon in wt / mu CDS

795 / 795

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

265 / 265

Position of stopcodon in wt / mu cDNA

810 / 810

Position of start ATG in wt / mu cDNA

16 / 16

Last intron/exon boundary

797

Theoretical NMD boundary in CDS

731

Length of CDS

795

Coding sequence (CDS) position

10

cDNA position

25

gDNA position

38

Chromosomal position

151399597

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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