MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000360358
MT speed 0.04 s - this script 2.508132 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
ENST00000360358(MANE Select)	OR2W3	Benign	25\|75	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:247895704G>C_1_ENST00000360358

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 25|75 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:247895704G>C (GRCh38)

Gene symbol

OR2W3

Gene constraints

LOEUF: 1.86, LOF (oe): 0.00, misssense (oe): 1.08, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000360358.3

Genbank transcript ID

NM_001001957 (exact from MANE)

UniProt / AlphaMissense peptide

OR2W3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.118G>C
g.118G>C

AA changes

AAE:	V40L	?
Score:	32

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		40	V	V	I	L	I	A	Y	L	L	T	L	V	G	N	T	T	I	I	L	V	S	R	L	D
mutated	all conserved	40	V	V	I	L	I	A	Y	L	L	T	L	L	G	N	T	T	I	I	L	V	S	R	L
Ptroglodytes	no homologue
Mmulatta	all identical	40	V	V	I	L	I	A	Y	L	L	T	L	V	G	N	T	T	I	I	L	V	S	R	L
Fcatus	all conserved	40	V	V	I	L	I	A	Y	L	L	T	L	M	G	N	T	T	I	I	L	V	S	R	L
Mmusculus	all conserved	40	A	I	I	L	P	A	Y	L	L	T	L	L	G	N	S	I	I	I	L	V	S	R	L
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	314	CHAIN		lost
26	49	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-4.027	0
	-2.146	0
(flanking)	2.269	0.036

?

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

TCGCGTACCTCCTGACCCTCGTAGGCAACACCACCATCATC

Altered gDNA sequence snippet

TCGCGTACCTCCTGACCCTCCTAGGCAACACCACCATCATC

Original cDNA sequence snippet

TCGCGTACCTCCTGACCCTCGTAGGCAACACCACCATCATC

Altered cDNA sequence snippet

TCGCGTACCTCCTGACCCTCCTAGGCAACACCACCATCATC

Wildtype AA sequence

MDGTNGSTQT HFILLGFSDR PHLERILFVV ILIAYLLTLV GNTTIILVSR LDPHLHTPMY
FFLAHLSFLD LSFTTSSIPQ LLYNLNGCDK TISYMGCAIQ LFLFLGLGGV ECLLLAVMAY
DRCVAICKPL HYMVIMNPRL CRGLVSVTWG CGVANSLAMS PVTLRLPRCG HHEVDHFLRE
MPALIRMACV STVAIEGTVF VLAVGVVLSP LVFILLSYSY IVRAVLQIRS ASGRQKAFGT
CGSHLTVVSL FYGNIIYMYM QPGASSSQDQ GMFLMLFYNI VTPLLNPLIY TLRNREVKGA
LGRLLLGKRE LGKE*

Mutated AA sequence

MDGTNGSTQT HFILLGFSDR PHLERILFVV ILIAYLLTLL GNTTIILVSR LDPHLHTPMY
FFLAHLSFLD LSFTTSSIPQ LLYNLNGCDK TISYMGCAIQ LFLFLGLGGV ECLLLAVMAY
DRCVAICKPL HYMVIMNPRL CRGLVSVTWG CGVANSLAMS PVTLRLPRCG HHEVDHFLRE
MPALIRMACV STVAIEGTVF VLAVGVVLSP LVFILLSYSY IVRAVLQIRS ASGRQKAFGT
CGSHLTVVSL FYGNIIYMYM QPGASSSQDQ GMFLMLFYNI VTPLLNPLIY TLRNREVKGA
LGRLLLGKRE LGKE*

Position of stopcodon in wt / mu CDS

945 / 945

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

315 / 315

Position of stopcodon in wt / mu cDNA

945 / 945

Position of start ATG in wt / mu cDNA

1 / 1

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

945

Coding sequence (CDS) position

118

cDNA position

118

gDNA position

118

Chromosomal position

247895704

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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