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: ENST00000679684
Querying Taster for transcript #2: ENST00000679957
Querying Taster for transcript #3: ENST00000681269
Querying Taster for transcript #4: ENST00000366667
Querying Taster for transcript #5: ENST00000680041
Querying Taster for transcript #6: ENST00000681514
Querying Taster for transcript #7: ENST00000680783
MT speed 0.75 s - this script 3.239179 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000366667(MANE Select)	AGT	Benign	24\|76	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000680783	AGT	Benign	34\|66	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000679957	AGT	Benign	39\|61	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000679684	AGT	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000681269	AGT	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000680041	AGT	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000681514	AGT	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

1:230710048A>G_4_ENST00000366667

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 24|76 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:230710048A>G (GRCh38)

Gene symbol

AGT

Gene constraints

LOEUF: 1.20, LOF (oe): 0.87, misssense (oe): 0.95, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000366667.6

Genbank transcript ID

NM_001384479 (exact from MANE)

UniProt / AlphaMissense peptide

ANGT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.776T>C
g.35529T>C

AA changes

AAE:	M259T	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs699
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		259	A	V	T	G	W	K	T	G	C	S	L	M	G	A	S	V	D	S	T	L	A	F	N	T
mutated	not conserved	259	A	V	T	G	W	K	T	G	C	S	L	T	G	A	S	V	D	S	T	L	A	F	N
Ptroglodytes	not conserved	268	A	V	T	G	W	K	T	G	C	S	L	T	G	A	S	V	D	S	T	L	A	F	N
Mmulatta	not conserved	268	A	V	T	G	W	K	I	S	S	P	L	T	G	A	S	A	D	S	T	L	V	F	N
Fcatus	not conserved	260	A	V	T	G	W	K	M	N	S	P	L	S	G	V	G	S	G	S	T	L	L	F	N
Mmusculus	not conserved	264	A	V	T	G	W	K	M	N	L	P	L	E	G	V	S	T	D	S	T	L	L	F	N
Ggallus	not conserved	296	A	K	S	K	G	Q	S	K	H	L	L	T	D	L	D	P	T	T	D	L	L	V	A
Trubripes	not conserved	203	K	T	S	D	G	K	V	K	S	A	F	K	N	L	N	S	S	S	N	L	L	F	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all conserved	244	T	R	S	T	K	K	S	-	-	T	Y	I	S	T	P	V	D	D	SVN	I	L	F	T

Protein features

Start (aa)	End (aa)	Feature	Details
25	476	CHAIN		lost
258	260	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.665	0
	0.514	0
(flanking)	-0.766	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

1

Strand

-1

Original gDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered gDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Original cDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered cDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Wildtype AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLMG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEVLNSIF
FELEADEREP TESTQQLNKP EVLEVTLNRP FLFAVYDQSA TALHFLGRVA NPLSTA*

Mutated AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLTG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEVLNSIF
FELEADEREP TESTQQLNKP EVLEVTLNRP FLFAVYDQSA TALHFLGRVA NPLSTA*

Position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

Position of stopcodon in wt / mu cDNA

1498 / 1498

Position of start ATG in wt / mu cDNA

68 / 68

Last intron/exon boundary

1309

Theoretical NMD boundary in CDS

1191

Length of CDS

1431

Coding sequence (CDS) position

776

cDNA position

843

gDNA position

35529

Chromosomal position

230710048

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:

1:230710048A>G_7_ENST00000680783

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 34|66 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:230710048A>G (GRCh38)

Gene symbol

AGT

Gene constraints

LOEUF: 1.22, LOF (oe): 0.74, misssense (oe): 0.97, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000680783.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.776T>C
g.35529T>C

AA changes

AAE:	M259T	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs699
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		259	A	V	T	G	W	K	T	G	C	S	L	M	G	A	S	V	D	S	T	L	A	F	N	T
mutated	not conserved	259	A	V	T	G	W	K	T	G	C	S	L	T	G	A	S	V	D	S	T	L	A	F	N
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)	-1.665	0
	0.514	0
(flanking)	-0.766	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

1

Strand

-1

Original gDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered gDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Original cDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered cDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Wildtype AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLMG ASVDSTLAFN TYVHFQGLTF EQRRD*

Mutated AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLTG ASVDSTLAFN TYVHFQGLTF EQRRD*

Position of stopcodon in wt / mu CDS

858 / 858

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

286 / 286

Position of stopcodon in wt / mu cDNA

1369 / 1369

Position of start ATG in wt / mu cDNA

512 / 512

Last intron/exon boundary

1340

Theoretical NMD boundary in CDS

778

Length of CDS

858

Coding sequence (CDS) position

776

cDNA position

1287

gDNA position

35529

Chromosomal position

230710048

Speed

0.11 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:

1:230710048A>G_2_ENST00000679957

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 39|61 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:230710048A>G (GRCh38)

Gene symbol

AGT

Gene constraints

LOEUF: 1.20, LOF (oe): 0.86, misssense (oe): 0.95, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000679957.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.776T>C
g.35529T>C

AA changes

AAE:	M259T	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs699
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		259	A	V	T	G	W	K	T	G	C	S	L	M	G	A	S	V	D	S	T	L	A	F	N	T
mutated	not conserved	259	A	V	T	G	W	K	T	G	C	S	L	T	G	A	S	V	D	S	T	L	A	F	N
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)	-1.665	0
	0.514	0
(flanking)	-0.766	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

1

Strand

-1

Original gDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered gDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Original cDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered cDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Wildtype AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLMG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVLNSIFFEL
EADEREPTES TQQLNKPEVL EVTLNRPFLF AVYDQSATAL HFLGRVANPL STA*

Mutated AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLTG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVLNSIFFEL
EADEREPTES TQQLNKPEVL EVTLNRPFLF AVYDQSATAL HFLGRVANPL STA*

Position of stopcodon in wt / mu CDS

1422 / 1422

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

474 / 474

Position of stopcodon in wt / mu cDNA

1933 / 1933

Position of start ATG in wt / mu cDNA

512 / 512

Last intron/exon boundary

1744

Theoretical NMD boundary in CDS

1182

Length of CDS

1422

Coding sequence (CDS) position

776

cDNA position

1287

gDNA position

35529

Chromosomal position

230710048

Speed

0.13 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:

1:230710048A>G_1_ENST00000679684

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 43|57 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:230710048A>G (GRCh38)

Gene symbol

AGT

Gene constraints

LOEUF: 1.21, LOF (oe): 0.87, misssense (oe): 0.95, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000679684.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.776T>C
g.35529T>C

AA changes

AAE:	M259T	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs699
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		259	A	V	T	G	W	K	T	G	C	S	L	M	G	A	S	V	D	S	T	L	A	F	N	T
mutated	not conserved	259	A	V	T	G	W	K	T	G	C	S	L	T	G	A	S	V	D	S	T	L	A	F	N
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)	-1.665	0
	0.514	0
(flanking)	-0.766	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

1

Strand

-1

Original gDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered gDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Original cDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered cDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Wildtype AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLMG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEGPPGFL
*

Mutated AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLTG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEGPPGFL
*

Position of stopcodon in wt / mu CDS

1263 / 1263

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

421 / 421

Position of stopcodon in wt / mu cDNA

1774 / 1774

Position of start ATG in wt / mu cDNA

512 / 512

Last intron/exon boundary

1753

Theoretical NMD boundary in CDS

1191

Length of CDS

1263

Coding sequence (CDS) position

776

cDNA position

1287

gDNA position

35529

Chromosomal position

230710048

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:

1:230710048A>G_3_ENST00000681269

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:230710048A>G (GRCh38)

Gene symbol

AGT

Gene constraints

LOEUF: 1.20, LOF (oe): 0.87, misssense (oe): 0.95, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000681269.1

Genbank transcript ID

NM_001382817 (by similarity)

UniProt / AlphaMissense peptide

ANGT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.776T>C
g.35529T>C

AA changes

AAE:	M259T	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs699
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		259	A	V	T	G	W	K	T	G	C	S	L	M	G	A	S	V	D	S	T	L	A	F	N	T
mutated	not conserved	259	A	V	T	G	W	K	T	G	C	S	L	T	G	A	S	V	D	S	T	L	A	F	N
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
25	476	CHAIN		lost
258	260	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.665	0
	0.514	0
(flanking)	-0.766	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

1

Strand

-1

Original gDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered gDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Original cDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered cDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Wildtype AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLMG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEVLNSIF
FELEADEREP TESTQQLNKP EVLEVTLNRP FLFAVYDQSA TALHFLGRVA NPLSTA*

Mutated AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLTG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEVLNSIF
FELEADEREP TESTQQLNKP EVLEVTLNRP FLFAVYDQSA TALHFLGRVA NPLSTA*

Position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

Position of stopcodon in wt / mu cDNA

1523 / 1523

Position of start ATG in wt / mu cDNA

93 / 93

Last intron/exon boundary

1334

Theoretical NMD boundary in CDS

1191

Length of CDS

1431

Coding sequence (CDS) position

776

cDNA position

868

gDNA position

35529

Chromosomal position

230710048

Speed

0.13 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:

1:230710048A>G_5_ENST00000680041

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:230710048A>G (GRCh38)

Gene symbol

AGT

Gene constraints

LOEUF: 1.20, LOF (oe): 0.87, misssense (oe): 0.95, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000680041.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ANGT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.776T>C
g.35529T>C

AA changes

AAE:	M259T	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs699
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		259	A	V	T	G	W	K	T	G	C	S	L	M	G	A	S	V	D	S	T	L	A	F	N	T
mutated	not conserved	259	A	V	T	G	W	K	T	G	C	S	L	T	G	A	S	V	D	S	T	L	A	F	N
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
25	476	CHAIN		lost
258	260	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.665	0
	0.514	0
(flanking)	-0.766	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

1

Strand

-1

Original gDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered gDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Original cDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered cDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Wildtype AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLMG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEVLNSIF
FELEADEREP TESTQQLNKP EVLEVTLNRP FLFAVYDQSA TALHFLGRVA NPLSTA*

Mutated AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLTG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEVLNSIF
FELEADEREP TESTQQLNKP EVLEVTLNRP FLFAVYDQSA TALHFLGRVA NPLSTA*

Position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

Position of stopcodon in wt / mu cDNA

1646 / 1646

Position of start ATG in wt / mu cDNA

216 / 216

Last intron/exon boundary

1457

Theoretical NMD boundary in CDS

1191

Length of CDS

1431

Coding sequence (CDS) position

776

cDNA position

991

gDNA position

35529

Chromosomal position

230710048

Speed

0.11 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:

1:230710048A>G_6_ENST00000681514

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr1:230710048A>G (GRCh38)

Gene symbol

AGT

Gene constraints

LOEUF: 1.20, LOF (oe): 0.87, misssense (oe): 0.95, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000681514.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ANGT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.776T>C
g.35529T>C

AA changes

AAE:	M259T	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs699
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		259	A	V	T	G	W	K	T	G	C	S	L	M	G	A	S	V	D	S	T	L	A	F	N	T
mutated	not conserved	259	A	V	T	G	W	K	T	G	C	S	L	T	G	A	S	V	D	S	T	L	A	F	N
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
25	476	CHAIN		lost
258	260	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.665	0
	0.514	0
(flanking)	-0.766	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

1

Strand

-1

Original gDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered gDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Original cDNA sequence snippet

GAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCA

Altered cDNA sequence snippet

GAAGACTGGCTGCTCCCTGACGGGAGCCAGTGTGGACAGCA

Wildtype AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLMG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEVLNSIF
FELEADEREP TESTQQLNKP EVLEVTLNRP FLFAVYDQSA TALHFLGRVA NPLSTA*

Mutated AA sequence

MAPAGVSLRA TILCLLAWAG LAAGDRVYIH PFHLVIHNES TCEQLAKANA GKPKDPTFIP
APIQAKTSPV DEKALQDQLV LVAAKLDTED KLRAAMVGML ANFLGFRIYG MHSELWGVVH
GATVLSPTAV FGTLASLYLG ALDHTADRLQ AILGVPWKDK NCTSRLDAHK VLSALQAVQG
LLVAQGRADS QAQLLLSTVV GVFTAPGLHL KQPFVQGLAL YTPVVLPRSL DFTELDVAAE
KIDRFMQAVT GWKTGCSLTG ASVDSTLAFN TYVHFQGKMK GFSLLAEPQE FWVDNSTSVS
VPMLSGMGTF QHWSDIQDNF SVTQVPFTES ACLLLIQPHY ASDLDKVEGL TFQQNSLNWM
KKLSPRTIHL TMPQLVLQGS YDLQDLLAQA ELPAILHTEL NLQKLSNDRI RVGEVLNSIF
FELEADEREP TESTQQLNKP EVLEVTLNRP FLFAVYDQSA TALHFLGRVA NPLSTA*

Position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

Position of stopcodon in wt / mu cDNA

1585 / 1585

Position of start ATG in wt / mu cDNA

155 / 155

Last intron/exon boundary

1396

Theoretical NMD boundary in CDS

1191

Length of CDS

1431

Coding sequence (CDS) position

776

cDNA position

930

gDNA position

35529

Chromosomal position

230710048

Speed

0.13 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