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: ENST00000305988
MT speed 0.1 s - this script 2.554882 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
ENST00000305988(MANE Select)	ADRB2	Benign	75\|25	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

5:148826877G>A_1_ENST00000305988

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 75|25 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr5:148826877G>A (GRCh38)

Gene symbol

ADRB2

Gene constraints

LOEUF: 0.90, LOF (oe): 0.59, misssense (oe): 0.77, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000305988.6

Genbank transcript ID

NM_000024 (exact from MANE)

UniProt / AlphaMissense peptide

ADRB2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.46G>A
g.267G>A

AA changes

AAE:	G16R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1042713
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		16	G	N	G	S	A	F	L	L	A	P	N	G	S	H	A	P	D	H	D	V	T	Q	E	R
mutated	not conserved	16	G	N	G	S	A	F	L	L	A	P	N	R	S	H	A	P	D	H	D	V	T	Q	E
Ptroglodytes	all identical	16	G	N	G	S	A	F	L	L	A	P	N	G	S	H	A	P	D	H	D	V	T	Q	E
Mmulatta	all identical	16	G	N	G	S	A	F	L	L	A	P	N	G	S	H	A	P	D	H	D	V	T	Q	E
Fcatus	all identical	16	G	N	R	S	V	F	L	L	A	P	N	G	S	H	A	P	D	Q	D	G	T	Q	E
Mmusculus	all identical	16	G	N	D	S	D	F	L	L	A	P	N	G	S	R	A	P	D	H	D	V	T	Q	E
Ggallus	no alignment	n/a
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	34	TOPO_DOM	Extracellular	lost
1	413	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.248	0
	1.807	0.014
(flanking)	0.126	0.001

?

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

5

Strand

1

Original gDNA sequence snippet

CCTTCTTGCTGGCACCCAATGGAAGCCATGCGCCGGACCAC

Altered gDNA sequence snippet

CCTTCTTGCTGGCACCCAATAGAAGCCATGCGCCGGACCAC

Original cDNA sequence snippet

CCTTCTTGCTGGCACCCAATGGAAGCCATGCGCCGGACCAC

Altered cDNA sequence snippet

CCTTCTTGCTGGCACCCAATAGAAGCCATGCGCCGGACCAC

Wildtype AA sequence

MGQPGNGSAF LLAPNGSHAP DHDVTQERDE VWVVGMGIVM SLIVLAIVFG NVLVITAIAK
FERLQTVTNY FITSLACADL VMGLAVVPFG AAHILMKMWT FGNFWCEFWT SIDVLCVTAS
IETLCVIAVD RYFAITSPFK YQSLLTKNKA RVIILMVWIV SGLTSFLPIQ MHWYRATHQE
AINCYANETC CDFFTNQAYA IASSIVSFYV PLVIMVFVYS RVFQEAKRQL QKIDKSEGRF
HVQNLSQVEQ DGRTGHGLRR SSKFCLKEHK ALKTLGIIMG TFTLCWLPFF IVNIVHVIQD
NLIRKEVYIL LNWIGYVNSG FNPLIYCRSP DFRIAFQELL CLRRSSLKAY GNGYSSNGNT
GEQSGYHVEQ EKENKLLCED LPGTEDFVGH QGTVPSDNID SQGRNCSTND SLL*

Mutated AA sequence

MGQPGNGSAF LLAPNRSHAP DHDVTQERDE VWVVGMGIVM SLIVLAIVFG NVLVITAIAK
FERLQTVTNY FITSLACADL VMGLAVVPFG AAHILMKMWT FGNFWCEFWT SIDVLCVTAS
IETLCVIAVD RYFAITSPFK YQSLLTKNKA RVIILMVWIV SGLTSFLPIQ MHWYRATHQE
AINCYANETC CDFFTNQAYA IASSIVSFYV PLVIMVFVYS RVFQEAKRQL QKIDKSEGRF
HVQNLSQVEQ DGRTGHGLRR SSKFCLKEHK ALKTLGIIMG TFTLCWLPFF IVNIVHVIQD
NLIRKEVYIL LNWIGYVNSG FNPLIYCRSP DFRIAFQELL CLRRSSLKAY GNGYSSNGNT
GEQSGYHVEQ EKENKLLCED LPGTEDFVGH QGTVPSDNID SQGRNCSTND SLL*

Position of stopcodon in wt / mu CDS

1242 / 1242

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

414 / 414

Position of stopcodon in wt / mu cDNA

1463 / 1463

Position of start ATG in wt / mu cDNA

222 / 222

Last intron/exon boundary

0

Theoretical NMD boundary in CDS

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

Length of CDS

1242

Coding sequence (CDS) position

46

cDNA position

267

gDNA position

267

Chromosomal position

148826877

Speed

0.10 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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