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: ENST00000352480
Querying Taster for transcript #2: ENST00000372394
Querying Taster for transcript #3: ENST00000372393
MT speed 0.21 s - this script 2.620821 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
ENST00000352480(MANE Select)	ASS1	Benign	46\|54	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000372394	ASS1	Benign	49\|51	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000372393	ASS1	Benign	49\|51	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

9:130458549G>A_1_ENST00000352480

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 46|54 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:130458549G>A (GRCh38)

Gene symbol

ASS1

Gene constraints

LOEUF: 1.14, LOF (oe): 0.92, misssense (oe): 0.79, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000352480.10

Genbank transcript ID

NM_054012 (exact from MANE)

UniProt / AlphaMissense peptide

ASSY_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.323G>A
g.13589G>A

AA changes

AAE:	R108Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs35269064
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	10	10

Protein conservation

Species	Match	AA	Alignment
Human		108	C	I	A	R	K	Q	V	E	I	A	Q	R	E	G	A	K	Y	V	S	H	G	A	T	G
mutated	all conserved	108	C	I	A	R	K	Q	V	E	I	A	Q	Q	E	G	A	K	Y	V	S	H	G	A	T
Ptroglodytes	all identical	108	C	I	A	R	K	Q	V	E	I	A	Q	R	E	G	A	K	Y	V	S	H	G	A	T
Mmulatta	all identical	108	C	I	A	R	K	Q	V	E	I	A	Q	R	E	G	A	K	Y	V	S	H	G	A	T
Fcatus	all identical	108	C	I	A	R	K	Q	V	E	I	A	Q	R	E	G	A	K	Y	V	S	H	G	A	T
Mmusculus	all identical	108	C	I	A	R	R	Q	V	E	I	A	Q	R	E	G	A	K	Y	V	S	H	G	A	T
Ggallus	not conserved	131	C	I	A	R	H	L	V	L	I	A	Q	E	E	G	A	R	Y	I	A	H	G	A	T
Trubripes	all identical	151	C	I	A	R	K	L	V	E	I	A	R	R	E	G	A	Q	F	I	S	H	G	A	T
Drerio	no homologue
Dmelanogaster	not conserved	107	C	I	S	V	A	L	M	E	V	A	R	E	Y	G	A	K	Y	L	A	H	G	A	T
Celegans	no homologue
Xtropicalis	all conserved	109	C	I	A	K	K	Q	V	E	I	A	K	K	E	A	A	E	Y	V	S	H	G	A	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	412	CHAIN		lost
94	109	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.059	0.026
	0.908	0.02
(flanking)	-0.318	0.01

?

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

9

Strand

1

Original gDNA sequence snippet

ACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGT

Altered gDNA sequence snippet

ACAAGTGGAAATCGCCCAGCAGGAGGGGGCCAAGTATGTGT

Original cDNA sequence snippet

ACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGT

Altered cDNA sequence snippet

ACAAGTGGAAATCGCCCAGCAGGAGGGGGCCAAGTATGTGT

Wildtype AA sequence

MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*

Mutated AA sequence

MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQQEG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*

Position of stopcodon in wt / mu CDS

1239 / 1239

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

413 / 413

Position of stopcodon in wt / mu cDNA

1279 / 1279

Position of start ATG in wt / mu cDNA

41 / 41

Last intron/exon boundary

1233

Theoretical NMD boundary in CDS

1142

Length of CDS

1239

Coding sequence (CDS) position

323

cDNA position

363

gDNA position

13589

Chromosomal position

130458549

Speed

0.09 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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MutationT@ster 2025

Variant:

9:130458549G>A_2_ENST00000372394

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:130458549G>A (GRCh38)

Gene symbol

ASS1

Gene constraints

LOEUF: 1.14, LOF (oe): 0.92, misssense (oe): 0.79, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000372394.5

Genbank transcript ID

UniProt / AlphaMissense peptide

ASSY_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.323G>A
g.13589G>A

AA changes

AAE:	R108Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs35269064
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	10	10

Protein conservation

Species	Match	AA	Alignment
Human		108	C	I	A	R	K	Q	V	E	I	A	Q	R	E	G	A	K	Y	V	S	H	G	A	T	G
mutated	all conserved	108	C	I	A	R	K	Q	V	E	I	A	Q	Q	E	G	A	K	Y	V	S	H	G	A	T
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

Start (aa)	End (aa)	Feature	Details
1	412	CHAIN		lost
94	109	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.059	0.026
	0.908	0.02
(flanking)	-0.318	0.01

?

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

9

Strand

1

Original gDNA sequence snippet

ACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGT

Altered gDNA sequence snippet

ACAAGTGGAAATCGCCCAGCAGGAGGGGGCCAAGTATGTGT

Original cDNA sequence snippet

ACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGT

Altered cDNA sequence snippet

ACAAGTGGAAATCGCCCAGCAGGAGGGGGCCAAGTATGTGT

Wildtype AA sequence

MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*

Mutated AA sequence

MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQQEG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*

Position of stopcodon in wt / mu CDS

1239 / 1239

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

413 / 413

Position of stopcodon in wt / mu cDNA

1720 / 1720

Position of start ATG in wt / mu cDNA

482 / 482

Last intron/exon boundary

1674

Theoretical NMD boundary in CDS

1142

Length of CDS

1239

Coding sequence (CDS) position

323

cDNA position

804

gDNA position

13589

Chromosomal position

130458549

Speed

0.09 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:

9:130458549G>A_3_ENST00000372393

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:130458549G>A (GRCh38)

Gene symbol

ASS1

Gene constraints

LOEUF: 1.14, LOF (oe): 0.92, misssense (oe): 0.79, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000372393.7

Genbank transcript ID

NM_000050 (by similarity)

UniProt / AlphaMissense peptide

ASSY_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.323G>A
g.13589G>A

AA changes

AAE:	R108Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs35269064
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	10	10

Protein conservation

Species	Match	AA	Alignment
Human		108	C	I	A	R	K	Q	V	E	I	A	Q	R	E	G	A	K	Y	V	S	H	G	A	T	G
mutated	all conserved	108	C	I	A	R	K	Q	V	E	I	A	Q	Q	E	G	A	K	Y	V	S	H	G	A	T
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

Start (aa)	End (aa)	Feature	Details
1	412	CHAIN		lost
94	109	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.059	0.026
	0.908	0.02
(flanking)	-0.318	0.01

?

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

9

Strand

1

Original gDNA sequence snippet

ACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGT

Altered gDNA sequence snippet

ACAAGTGGAAATCGCCCAGCAGGAGGGGGCCAAGTATGTGT

Original cDNA sequence snippet

ACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGT

Altered cDNA sequence snippet

ACAAGTGGAAATCGCCCAGCAGGAGGGGGCCAAGTATGTGT

Wildtype AA sequence

MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*

Mutated AA sequence

MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQQEG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*

Position of stopcodon in wt / mu CDS

1239 / 1239

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

413 / 413

Position of stopcodon in wt / mu cDNA

1314 / 1314

Position of start ATG in wt / mu cDNA

76 / 76

Last intron/exon boundary

1268

Theoretical NMD boundary in CDS

1142

Length of CDS

1239

Coding sequence (CDS) position

323

cDNA position

398

gDNA position

13589

Chromosomal position

130458549

Speed

0.03 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