MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000373256
MT speed 0.4 s - this script 2.868438 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
ENST00000373256(MANE Select)	GLP1R	Deleterious	91\|9	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:39072870A>G_1_ENST00000373256

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:39072870A>G (GRCh38)

Gene symbol

GLP1R

Gene constraints

LOEUF: 0.49, LOF (oe): 0.31, misssense (oe): 0.77, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000373256.5

Genbank transcript ID

NM_002062 (exact from MANE)

UniProt / AlphaMissense peptide

GLP1R_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.518A>G
g.24090A>G

AA changes

AAE:	H173R	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs745360395
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	1	25	26

Protein conservation

Species	Match	AA	Alignment
Human		173	A	S	A	I	L	L	G	F	R	H	L	H	C	T	R	N	Y	I	H	L	N	L	F	A
mutated	not conserved	173	A	S	A	I	L	L	G	F	R	H	L	R	C	T	R	N	Y	I	H
Ptroglodytes	all identical	173	A	S	A	I	L	L	G	F	R	H	L	H	C	T	R	N	Y	I	H
Mmulatta	all identical	173	A	S	A	I	L	L	G	F	R	H	L	H	C	T	R	N	Y	I	H
Fcatus	all identical	164	A	S	A	I	L	L	S	F	R	H	L	H	C	T	R	N	Y	I	H
Mmusculus	all identical	173	A	S	A	I	L	V	G	F	R	H	L	H	C	T	R	N	Y	I	H
Ggallus	no alignment	n/a
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	171	A	T	I	I	L	V	R	F	R	H	L	H	C	T	R	N	Y	I	H	L	N	L	F

Protein features

Start (aa)	End (aa)	Feature	Details
24	463	CHAIN		lost
165	175	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.173	1
	6.323	1
(flanking)	2.648	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

9

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

6

Strand

1

Original gDNA sequence snippet

TTTCTCCCTCAGACACCTGCACTGCACCAGGAACTACATCC

Altered gDNA sequence snippet

TTTCTCCCTCAGACACCTGCGCTGCACCAGGAACTACATCC

Original cDNA sequence snippet

CCTCGGCTTCAGACACCTGCACTGCACCAGGAACTACATCC

Altered cDNA sequence snippet

CCTCGGCTTCAGACACCTGCGCTGCACCAGGAACTACATCC

Wildtype AA sequence

MAGAPGPLRL ALLLLGMVGR AGPRPQGATV SLWETVQKWR EYRRQCQRSL TEDPPPATDL
FCNRTFDEYA CWPDGEPGSF VNVSCPWYLP WASSVPQGHV YRFCTAEGLW LQKDNSSLPW
RDLSECEESK RGERSSPEEQ LLFLYIIYTV GYALSFSALV IASAILLGFR HLHCTRNYIH
LNLFASFILR ALSVFIKDAA LKWMYSTAAQ QHQWDGLLSY QDSLSCRLVF LLMQYCVAAN
YYWLLVEGVY LYTLLAFSVL SEQWIFRLYV SIGWGVPLLF VVPWGIVKYL YEDEGCWTRN
SNMNYWLIIR LPILFAIGVN FLIFVRVICI VVSKLKANLM CKTDIKCRLA KSTLTLIPLL
GTHEVIFAFV MDEHARGTLR FIKLFTELSF TSFQGLMVAI LYCFVNNEVQ LEFRKSWERW
RLEHLHIQRD SSMKPLKCPT SSLSSGATAG SSMYTATCQA SCS*

Mutated AA sequence

MAGAPGPLRL ALLLLGMVGR AGPRPQGATV SLWETVQKWR EYRRQCQRSL TEDPPPATDL
FCNRTFDEYA CWPDGEPGSF VNVSCPWYLP WASSVPQGHV YRFCTAEGLW LQKDNSSLPW
RDLSECEESK RGERSSPEEQ LLFLYIIYTV GYALSFSALV IASAILLGFR HLRCTRNYIH
LNLFASFILR ALSVFIKDAA LKWMYSTAAQ QHQWDGLLSY QDSLSCRLVF LLMQYCVAAN
YYWLLVEGVY LYTLLAFSVL SEQWIFRLYV SIGWGVPLLF VVPWGIVKYL YEDEGCWTRN
SNMNYWLIIR LPILFAIGVN FLIFVRVICI VVSKLKANLM CKTDIKCRLA KSTLTLIPLL
GTHEVIFAFV MDEHARGTLR FIKLFTELSF TSFQGLMVAI LYCFVNNEVQ LEFRKSWERW
RLEHLHIQRD SSMKPLKCPT SSLSSGATAG SSMYTATCQA SCS*

Position of stopcodon in wt / mu CDS

1392 / 1392

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

464 / 464

Position of stopcodon in wt / mu cDNA

1452 / 1452

Position of start ATG in wt / mu cDNA

61 / 61

Last intron/exon boundary

1284

Theoretical NMD boundary in CDS

1173

Length of CDS

1392

Coding sequence (CDS) position

518

cDNA position

578

gDNA position

24090

Chromosomal position

39072870

Speed

0.40 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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