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: ENST00000377173
MT speed 0.07 s - this script 2.466196 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
ENST00000377173(MANE Select)	OR2B3	Deleterious	69\|31	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:29086515A>G_1_ENST00000377173

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 69|31 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:29086515A>G (GRCh38)

Gene symbol

OR2B3

Gene constraints

LOEUF: NA, LOF (oe): NA, misssense (oe): 0.85, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000377173.4

Genbank transcript ID

NM_001005226 (exact from MANE)

UniProt / AlphaMissense peptide

OR2B3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.734T>C
g.799T>C

AA changes

AAE:	M245T	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs760779836
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		245	R	Q	K	A	F	G	T	C	G	S	H	M	I	V	V	S	L	F	Y	G	T	A	I	Y
mutated	not conserved	245								C	G	S	H	T	I	V	V	S	L	F	Y	G	T	A	I
Ptroglodytes	all identical	245								C	G	S	H	M	I	V	V	S	L	F	Y	G	T	A	I
Mmulatta	all identical	245								C	G	S	H	M	V	V	V	S	L	F	Y	G	T	A	I
Fcatus	all identical	245								C	G	S	H	M	V	V	V	S	L	F	F	G	T	G	I
Mmusculus	no homologue
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	313	CHAIN		lost
237	259	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.653	0
	7.326	0.943
(flanking)	-1.562	0

?

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

6

Strand

-1

Original gDNA sequence snippet

TGGGACATGTGGGTCCCACATGATTGTGGTGTCCCTCTTTT

Altered gDNA sequence snippet

TGGGACATGTGGGTCCCACACGATTGTGGTGTCCCTCTTTT

Original cDNA sequence snippet

TGGGACATGTGGGTCCCACATGATTGTGGTGTCCCTCTTTT

Altered cDNA sequence snippet

TGGGACATGTGGGTCCCACACGATTGTGGTGTCCCTCTTTT

Wildtype AA sequence

MNWENESSPK EFILLGFSDR AWLQMPLFVV LLISYTITIF GNVSIMMVCI LDPKLHTPMY
FFLTNLSILD LCYTTTTVPH MLVNIGCNKK TISYAGCVAH LIIFLALGAT ECLLLAVMSF
DRYVAVCRPL HYVVIMNYWF CLRMAAFSWL IGFGNSVLQS SLTLNMPRCG HQEVDHFFCE
VPALLKLSCA DTKPIEAELF FFSVLILLIP VTLILISYGF IAQAVLKIRS AEGRQKAFGT
CGSHMIVVSL FYGTAIYMYL QPPSSTSKDW GKMVSLFYGI ITSMLNSLIY SLRNKDMKEA
FKRLMPRIFF CKK*

Mutated AA sequence

MNWENESSPK EFILLGFSDR AWLQMPLFVV LLISYTITIF GNVSIMMVCI LDPKLHTPMY
FFLTNLSILD LCYTTTTVPH MLVNIGCNKK TISYAGCVAH LIIFLALGAT ECLLLAVMSF
DRYVAVCRPL HYVVIMNYWF CLRMAAFSWL IGFGNSVLQS SLTLNMPRCG HQEVDHFFCE
VPALLKLSCA DTKPIEAELF FFSVLILLIP VTLILISYGF IAQAVLKIRS AEGRQKAFGT
CGSHTIVVSL FYGTAIYMYL QPPSSTSKDW GKMVSLFYGI ITSMLNSLIY SLRNKDMKEA
FKRLMPRIFF CKK*

Position of stopcodon in wt / mu CDS

942 / 942

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

314 / 314

Position of stopcodon in wt / mu cDNA

1007 / 1007

Position of start ATG in wt / mu cDNA

66 / 66

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

942

Coding sequence (CDS) position

734

cDNA position

799

gDNA position

799

Chromosomal position

29086515

Speed

0.07 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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