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: ENST00000606933
Querying Taster for transcript #2: ENST00000369064
Querying Taster for transcript #3: ENST00000369054
MT speed 0.19 s - this script 2.60099 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000369054	TARS2	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000606933	TARS2	Deleterious	97\|3	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000369064(MANE Select)	TARS2	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

1:150487892A>G_3_ENST00000369054

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 96|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:150487892A>G (GRCh38)

Gene symbol

TARS2

Gene constraints

LOEUF: 0.82, LOF (oe): 0.66, misssense (oe): 0.76, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000369054.6

Genbank transcript ID

NM_001271896 (by similarity)

UniProt / AlphaMissense peptide

SYTM_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.101A>G
g.479A>G

AA changes

AAE:	E34G	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		34	A	V	V	S	T	P	P	R	W	L	A	E	R	L	G	L	F	E	E	L	W	A	A	Q
mutated	not conserved	34	A	V	V	S	T	P	P	R	W	L	A	G	R	L	G	L	F	E	E	L	W	A	A
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.085	1
	7.392	1
(flanking)	0.95	1

?

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

CCCTCCACGCTGGTTGGCAGAGCGGCTTGGCCTTTTTGAGG

Altered gDNA sequence snippet

CCCTCCACGCTGGTTGGCAGGGCGGCTTGGCCTTTTTGAGG

Original cDNA sequence snippet

CCCTCCACGCTGGTTGGCAGAGCGGCTTGGCCTTTTTGAGG

Altered cDNA sequence snippet

CCCTCCACGCTGGTTGGCAGGGCGGCTTGGCCTTTTTGAGG

Wildtype AA sequence

MALYQRWRCL RLQGLQACRL HTAVVSTPPR WLAERLGLFE ELWAAQVKRL ASMAQKEPRT
IKISLPGGQK IDAVAWNTTP YQLARQISST LADTAVAAQV NGEPYDLERP LETDSDLRFL
TFDSPEGKAV FWHSSTHVLG AAAEQFLGAV LCRGPSTEYG FYHDFFLGKE RTIRGSELPV
LERICQELTA AARPFRRLEA SRDQLRQLFK AEYAHRGFSE VKTPTLFSTK LWEQSGHWEH
YQEDMFAVQP PGSDRPPSSQ SDDSTRHITD TLALKPMNCP AHCLMFAHRP RSWRELPLRL
ADFGALHRAE ASGGLGGLTR LRCFQQDDAH IFCTTDQLEA EIQSCLDFLR SVYAVLGFSF
RLALSTRPSG FLGDPCLWDQ AEQVLKQALK EFGEPWDLNS GDGAFYGPKI DVHLHDALGR
PHQCGTIQLD FQLPLRFDLQ YKGQAGALER PVLIHRAVLG SVERLLGVLA ESCGGKWPLW
LSPFQVVVIP VGSEQEEYAK EAQQSLRAAG LVSDLDADSG LTLSRRIRRA QLAHYNFQFV
VGQKEQSKRT VNIRTRDNRR LGEWDLPEAV QRLVELQNTR VPNAEEIF*

Mutated AA sequence

MALYQRWRCL RLQGLQACRL HTAVVSTPPR WLAGRLGLFE ELWAAQVKRL ASMAQKEPRT
IKISLPGGQK IDAVAWNTTP YQLARQISST LADTAVAAQV NGEPYDLERP LETDSDLRFL
TFDSPEGKAV FWHSSTHVLG AAAEQFLGAV LCRGPSTEYG FYHDFFLGKE RTIRGSELPV
LERICQELTA AARPFRRLEA SRDQLRQLFK AEYAHRGFSE VKTPTLFSTK LWEQSGHWEH
YQEDMFAVQP PGSDRPPSSQ SDDSTRHITD TLALKPMNCP AHCLMFAHRP RSWRELPLRL
ADFGALHRAE ASGGLGGLTR LRCFQQDDAH IFCTTDQLEA EIQSCLDFLR SVYAVLGFSF
RLALSTRPSG FLGDPCLWDQ AEQVLKQALK EFGEPWDLNS GDGAFYGPKI DVHLHDALGR
PHQCGTIQLD FQLPLRFDLQ YKGQAGALER PVLIHRAVLG SVERLLGVLA ESCGGKWPLW
LSPFQVVVIP VGSEQEEYAK EAQQSLRAAG LVSDLDADSG LTLSRRIRRA QLAHYNFQFV
VGQKEQSKRT VNIRTRDNRR LGEWDLPEAV QRLVELQNTR VPNAEEIF*

Position of stopcodon in wt / mu CDS

1767 / 1767

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

589 / 589

Position of stopcodon in wt / mu cDNA

1804 / 1804

Position of start ATG in wt / mu cDNA

38 / 38

Last intron/exon boundary

1655

Theoretical NMD boundary in CDS

1567

Length of CDS

1767

Coding sequence (CDS) position

101

cDNA position

138

gDNA position

479

Chromosomal position

150487892

Speed

0.06 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

Back to summary table

MutationT@ster 2025

Variant:

1:150487892A>G_1_ENST00000606933

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:150487892A>G (GRCh38)

Gene symbol

TARS2

Gene constraints

LOEUF: 0.78, LOF (oe): 0.62, misssense (oe): 0.75, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000606933.5

Genbank transcript ID

NM_001271895 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.101A>G
g.479A>G

AA changes

AAE:	E34G	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		34	A	V	V	S	T	P	P	R	W	L	A	E	R	L	G	L	F	E	E	L	W	A	A	Q
mutated	not conserved	34	A	V	V	S	T	P	P	R	W	L	A	G	R	L	G	L	F	E	E	L	W	A	A
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.085	1
	7.392	1
(flanking)	0.95	1

?

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

CCCTCCACGCTGGTTGGCAGAGCGGCTTGGCCTTTTTGAGG

Altered gDNA sequence snippet

CCCTCCACGCTGGTTGGCAGGGCGGCTTGGCCTTTTTGAGG

Original cDNA sequence snippet

CCCTCCACGCTGGTTGGCAGAGCGGCTTGGCCTTTTTGAGG

Altered cDNA sequence snippet

CCCTCCACGCTGGTTGGCAGGGCGGCTTGGCCTTTTTGAGG

Wildtype AA sequence

MALYQRWRCL RLQGLQACRL HTAVVSTPPR WLAERLGLFE ELWAAQVKRL ASMAQKEPRT
IKISLPGGQK IDAVAWNTTP YQLARQISST LADTAVAAQV NGEPYDLERP LETDSDLRFL
TFDSPEGKAV FWHSSTHVLG AAAEQFLGAV LCRGPSTEYG FYHDFFLGKE RTIRGSELPV
LERICQELTA AARPFRRLEA SRDQLRQLFK DNPFKLHLIE EKVTGPTATV YGCGTLVDLC
QGPHLRHTGQ IGGLKLLSAE YAHRGFSEVK TPTLFSTKLW EQSGHWEHYQ EDMFAVQPPG
SDRPPSSQSD DSTRHITDTL ALKPMNCPAH CLMFAHRPRS WRELPLRLAD FGALHRAEAS
GGLGGLTRLR CFQQDDAHIF CTTDQLEAEI QSCLDFLRSV YAVLGFSFRL ALSTRPSGFL
GDPCLWDQAE QVLKQALKEF GEPWDLNSGD GAFYGPKIDV HLHDALGRPH QCGTIQLDFQ
LPLRFDLQYK GQAGALERPV LIHRAVLGSV ERLLGVLAES CGGKWPLWLS PFQVVVIPVG
SEQEEYAKEA QQSLRAAGLV SDLDADSGLT LSRRIRRAQL AHYNFQFVVG QKEQSKRTVN
IRTRDNRRLG EWDLPEAVQR LVELQNTRVP NAEEIF*

Mutated AA sequence

MALYQRWRCL RLQGLQACRL HTAVVSTPPR WLAGRLGLFE ELWAAQVKRL ASMAQKEPRT
IKISLPGGQK IDAVAWNTTP YQLARQISST LADTAVAAQV NGEPYDLERP LETDSDLRFL
TFDSPEGKAV FWHSSTHVLG AAAEQFLGAV LCRGPSTEYG FYHDFFLGKE RTIRGSELPV
LERICQELTA AARPFRRLEA SRDQLRQLFK DNPFKLHLIE EKVTGPTATV YGCGTLVDLC
QGPHLRHTGQ IGGLKLLSAE YAHRGFSEVK TPTLFSTKLW EQSGHWEHYQ EDMFAVQPPG
SDRPPSSQSD DSTRHITDTL ALKPMNCPAH CLMFAHRPRS WRELPLRLAD FGALHRAEAS
GGLGGLTRLR CFQQDDAHIF CTTDQLEAEI QSCLDFLRSV YAVLGFSFRL ALSTRPSGFL
GDPCLWDQAE QVLKQALKEF GEPWDLNSGD GAFYGPKIDV HLHDALGRPH QCGTIQLDFQ
LPLRFDLQYK GQAGALERPV LIHRAVLGSV ERLLGVLAES CGGKWPLWLS PFQVVVIPVG
SEQEEYAKEA QQSLRAAGLV SDLDADSGLT LSRRIRRAQL AHYNFQFVVG QKEQSKRTVN
IRTRDNRRLG EWDLPEAVQR LVELQNTRVP NAEEIF*

Position of stopcodon in wt / mu CDS

1911 / 1911

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

637 / 637

Position of stopcodon in wt / mu cDNA

1942 / 1942

Position of start ATG in wt / mu cDNA

32 / 32

Last intron/exon boundary

1793

Theoretical NMD boundary in CDS

1711

Length of CDS

1911

Coding sequence (CDS) position

101

cDNA position

132

gDNA position

479

Chromosomal position

150487892

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

Back to summary table

MutationT@ster 2025

Variant:

1:150487892A>G_2_ENST00000369064

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:150487892A>G (GRCh38)

Gene symbol

TARS2

Gene constraints

LOEUF: 0.76, LOF (oe): 0.62, misssense (oe): 0.74, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000369064.8

Genbank transcript ID

NM_025150 (exact from MANE)

UniProt / AlphaMissense peptide

SYTM_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.101A>G
g.479A>G

AA changes

AAE:	E34G	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		34	A	V	V	S	T	P	P	R	W	L	A	E	R	L	G	L	F	E	E	L	W	A	A	Q
mutated	not conserved	34	A	V	V	S	T	P	P	R	W	L	A	G	R	L	G	L	F	E	E	L	W	A	A
Ptroglodytes	all identical	34	A	V	V	S	T	P	P	R	W	L	A	E	R	L	G	L	F	E	E	L	W	A	A
Mmulatta	all identical	34	A	V	V	S	T	P	P	R	W	L	A	E	R	L	G	L	F	E	E	L	W	S	A
Fcatus	all identical	34	A	A	V	P	A	P	P	Q	W	L	A	E	R	L	G	L	F	E	E	L	W	T	A
Mmusculus	all identical	34	A	S	A	P	T	P	P	H	W	L	A	E	R	F	G	L	F	E	E	L	W	T	A
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	all identical	85			L	S	P	L	P	K	Y	I	E	E	R	-	N	V	F	W	E	K	C	K	A
Celegans	all identical	58							P	A	F	I	E	E	R	I	K	L	W	D	K	L	K	A	E
Xtropicalis	no homologue

Protein features

No protein features affected

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.085	1
	7.392	1
(flanking)	0.95	1

?

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

CCCTCCACGCTGGTTGGCAGAGCGGCTTGGCCTTTTTGAGG

Altered gDNA sequence snippet

CCCTCCACGCTGGTTGGCAGGGCGGCTTGGCCTTTTTGAGG

Original cDNA sequence snippet

CCCTCCACGCTGGTTGGCAGAGCGGCTTGGCCTTTTTGAGG

Altered cDNA sequence snippet

CCCTCCACGCTGGTTGGCAGGGCGGCTTGGCCTTTTTGAGG

Wildtype AA sequence

MALYQRWRCL RLQGLQACRL HTAVVSTPPR WLAERLGLFE ELWAAQVKRL ASMAQKEPRT
IKISLPGGQK IDAVAWNTTP YQLARQISST LADTAVAAQV NGEPYDLERP LETDSDLRFL
TFDSPEGKAV FWHSSTHVLG AAAEQFLGAV LCRGPSTEYG FYHDFFLGKE RTIRGSELPV
LERICQELTA AARPFRRLEA SRDQLRQLFK DNPFKLHLIE EKVTGPTATV YGCGTLVDLC
QGPHLRHTGQ IGGLKLLSNS SSLWRSSGAP ETLQRVSGIS FPTTELLRVW EAWREEAELR
DHRRIGKEQE LFFFHELSPG SCFFLPRGTR VYNALVAFIR AEYAHRGFSE VKTPTLFSTK
LWEQSGHWEH YQEDMFAVQP PGSDRPPSSQ SDDSTRHITD TLALKPMNCP AHCLMFAHRP
RSWRELPLRL ADFGALHRAE ASGGLGGLTR LRCFQQDDAH IFCTTDQLEA EIQSCLDFLR
SVYAVLGFSF RLALSTRPSG FLGDPCLWDQ AEQVLKQALK EFGEPWDLNS GDGAFYGPKI
DVHLHDALGR PHQCGTIQLD FQLPLRFDLQ YKGQAGALER PVLIHRAVLG SVERLLGVLA
ESCGGKWPLW LSPFQVVVIP VGSEQEEYAK EAQQSLRAAG LVSDLDADSG LTLSRRIRRA
QLAHYNFQFV VGQKEQSKRT VNIRTRDNRR LGEWDLPEAV QRLVELQNTR VPNAEEIF*

Mutated AA sequence

MALYQRWRCL RLQGLQACRL HTAVVSTPPR WLAGRLGLFE ELWAAQVKRL ASMAQKEPRT
IKISLPGGQK IDAVAWNTTP YQLARQISST LADTAVAAQV NGEPYDLERP LETDSDLRFL
TFDSPEGKAV FWHSSTHVLG AAAEQFLGAV LCRGPSTEYG FYHDFFLGKE RTIRGSELPV
LERICQELTA AARPFRRLEA SRDQLRQLFK DNPFKLHLIE EKVTGPTATV YGCGTLVDLC
QGPHLRHTGQ IGGLKLLSNS SSLWRSSGAP ETLQRVSGIS FPTTELLRVW EAWREEAELR
DHRRIGKEQE LFFFHELSPG SCFFLPRGTR VYNALVAFIR AEYAHRGFSE VKTPTLFSTK
LWEQSGHWEH YQEDMFAVQP PGSDRPPSSQ SDDSTRHITD TLALKPMNCP AHCLMFAHRP
RSWRELPLRL ADFGALHRAE ASGGLGGLTR LRCFQQDDAH IFCTTDQLEA EIQSCLDFLR
SVYAVLGFSF RLALSTRPSG FLGDPCLWDQ AEQVLKQALK EFGEPWDLNS GDGAFYGPKI
DVHLHDALGR PHQCGTIQLD FQLPLRFDLQ YKGQAGALER PVLIHRAVLG SVERLLGVLA
ESCGGKWPLW LSPFQVVVIP VGSEQEEYAK EAQQSLRAAG LVSDLDADSG LTLSRRIRRA
QLAHYNFQFV VGQKEQSKRT VNIRTRDNRR LGEWDLPEAV QRLVELQNTR VPNAEEIF*

Position of stopcodon in wt / mu CDS

2157 / 2157

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

719 / 719

Position of stopcodon in wt / mu cDNA

2189 / 2189

Position of start ATG in wt / mu cDNA

33 / 33

Last intron/exon boundary

2040

Theoretical NMD boundary in CDS

1957

Length of CDS

2157

Coding sequence (CDS) position

101

cDNA position

133

gDNA position

479

Chromosomal position

150487892

Speed

0.06 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

Back to summary table