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: ENST00000714389
Querying Taster for transcript #2: ENST00000714390
Querying Taster for transcript #3: ENST00000714391
Querying Taster for transcript #4: ENST00000295754
Querying Taster for transcript #5: ENST00000359013
MT speed 0.31 s - this script 2.718001 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000295754(MANE Select)	TGFBR2	Deleterious	97\|3	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000359013	TGFBR2	Deleterious	98\|2	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000714389	TGFBR2	Deleterious	100\|0	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000714390	TGFBR2	Deleterious	100\|0	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000714391	TGFBR2	Deleterious	100\|0	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes

MutationT@ster 2025

Variant:

3:30691421G>A_4_ENST00000295754

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected
Splice site changes

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

Analysed issue

Analysis result

Variant

Chr3:30691421G>A (GRCh38)

Gene symbol

TGFBR2

Gene constraints

LOEUF: 0.53, LOF (oe): 0.36, misssense (oe): 0.70, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000295754.10

Genbank transcript ID

NM_003242 (exact from MANE), NM_001407127 (by similarity), NM_001407130 (by similarity), NM_001407138 (by similarity)

UniProt / AlphaMissense peptide

TGFR2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1526G>A
g.84944G>A

AA changes

AAE:	G509D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs863223853
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		509	P	E	I	P	S	F	W	L	N	H	Q	G	I	Q	M	V	C	E	T	L	T	E	C	W
mutated	not conserved	509	P	E	I	P	S	F	W	L	N	H	Q	D	I	Q	M	V	C	E	T	L	T	E	C
Ptroglodytes	all identical	523	P	E	I	P	S	F	W	L	N	H	Q	G	I	Q	M	V	C	E
Mmulatta	all identical	534	P	E	I	P	S	F	W	L	N	H	Q	G	I	Q	M	V	C	E
Fcatus	all identical	546							W	L	N	H	Q	G	I	Q	M	V	C	E	T	L	T	E	C
Mmusculus	all identical	534	P	E	I	P	S	F	W	L	N	H	Q	G	I	Q	I	V	C	E
Ggallus	all identical	613												G	I	Q	M	V	C	E	T	L	I	E	C
Trubripes	all identical	1034	P	E	I	P	D	T	W	L	R	H	Q	G	V	A	M	M	C	G	T	I	M	E	C
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	752	P	E	I	S	N	S	W	L	S	H	Q	G	I	Q	L	V	C	E	T	I	T	E	C

Protein features

Start (aa)	End (aa)	Feature	Details
23	567	CHAIN		lost
188	567	TOPO_DOM	Cytoplasmic	lost
244	544	DOMAIN	Protein kinase	lost
439	567	REGION		lost
508	520	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	10.003	1
	10.003	1
(flanking)	0.771	0.999

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	84942	wt: 7.23 / mu: 7.76	-	wt: cccgctacag\|GGCATCCAGA mu: cccgctacag\|GACATCCAGA

Distance from splice site

2

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

3

Strand

1

Original gDNA sequence snippet

GATCTCTTTCCCGCTACAGGGCATCCAGATGGTGTGTGAGA

Altered gDNA sequence snippet

GATCTCTTTCCCGCTACAGGACATCCAGATGGTGTGTGAGA

Original cDNA sequence snippet

CTTCTGGCTCAACCACCAGGGCATCCAGATGGTGTGTGAGA

Altered cDNA sequence snippet

CTTCTGGCTCAACCACCAGGACATCCAGATGGTGTGTGAGA

Wildtype AA sequence

MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SVNNDMIVTD NNGAVKFPQL CKFCDVRFST
CDNQKSCMSN CSITSICEKP QEVCVAVWRK NDENITLETV CHDPKLPYHD FILEDAASPK
CIMKEKKKPG ETFFMCSCSS DECNDNIIFS EEYNTSNPDL LLVIFQVTGI SLLPPLGVAI
SVIIIFYCYR VNRQQKLSST WETGKTRKLM EFSEHCAIIL EDDRSDISST CANNINHNTE
LLPIELDTLV GKGRFAEVYK AKLKQNTSEQ FETVAVKIFP YEEYASWKTE KDIFSDINLK
HENILQFLTA EERKTELGKQ YWLITAFHAK GNLQEYLTRH VISWEDLRKL GSSLARGIAH
LHSDHTPCGR PKMPIVHRDL KSSNILVKND LTCCLCDFGL SLRLDPTLSV DDLANSGQVG
TARYMAPEVL ESRMNLENVE SFKQTDVYSM ALVLWEMTSR CNAVGEVKDY EPPFGSKVRE
HPCVESMKDN VLRDRGRPEI PSFWLNHQGI QMVCETLTEC WDHDPEARLT AQCVAERFSE
LEHLDRLSGR SCSEEKIPED GSLNTTK*

Mutated AA sequence

MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SVNNDMIVTD NNGAVKFPQL CKFCDVRFST
CDNQKSCMSN CSITSICEKP QEVCVAVWRK NDENITLETV CHDPKLPYHD FILEDAASPK
CIMKEKKKPG ETFFMCSCSS DECNDNIIFS EEYNTSNPDL LLVIFQVTGI SLLPPLGVAI
SVIIIFYCYR VNRQQKLSST WETGKTRKLM EFSEHCAIIL EDDRSDISST CANNINHNTE
LLPIELDTLV GKGRFAEVYK AKLKQNTSEQ FETVAVKIFP YEEYASWKTE KDIFSDINLK
HENILQFLTA EERKTELGKQ YWLITAFHAK GNLQEYLTRH VISWEDLRKL GSSLARGIAH
LHSDHTPCGR PKMPIVHRDL KSSNILVKND LTCCLCDFGL SLRLDPTLSV DDLANSGQVG
TARYMAPEVL ESRMNLENVE SFKQTDVYSM ALVLWEMTSR CNAVGEVKDY EPPFGSKVRE
HPCVESMKDN VLRDRGRPEI PSFWLNHQDI QMVCETLTEC WDHDPEARLT AQCVAERFSE
LEHLDRLSGR SCSEEKIPED GSLNTTK*

Position of stopcodon in wt / mu CDS

1704 / 1704

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

568 / 568

Position of stopcodon in wt / mu cDNA

1987 / 1987

Position of start ATG in wt / mu cDNA

284 / 284

Last intron/exon boundary

1807

Theoretical NMD boundary in CDS

1473

Length of CDS

1704

Coding sequence (CDS) position

1526

cDNA position

1809

gDNA position

84944

Chromosomal position

30691421

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:

3:30691421G>A_5_ENST00000359013

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected
Splice site changes

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:30691421G>A (GRCh38)

Gene symbol

TGFBR2

Gene constraints

LOEUF: 0.52, LOF (oe): 0.35, misssense (oe): 0.71, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000359013.4

Genbank transcript ID

NM_001407126 (by similarity), NM_001024847 (by similarity), NM_001407139 (by similarity), NM_001407137 (by similarity)

UniProt / AlphaMissense peptide

TGFR2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1601G>A
g.84944G>A

AA changes

AAE:	G534D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs863223853
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		534	P	E	I	P	S	F	W	L	N	H	Q	G	I	Q	M	V	C	E	T	L	T	E	C	W
mutated	not conserved	534	P	E	I	P	S	F	W	L	N	H	Q	D	I	Q	M	V	C	E
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
23	567	CHAIN		lost
188	567	TOPO_DOM	Cytoplasmic	lost
244	544	DOMAIN	Protein kinase	lost
439	567	REGION		lost
531	539	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	10.003	1
	10.003	1
(flanking)	0.771	0.999

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	84942	wt: 7.23 / mu: 7.76	-	wt: cccgctacag\|GGCATCCAGA mu: cccgctacag\|GACATCCAGA

Distance from splice site

2

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

3

Strand

1

Original gDNA sequence snippet

GATCTCTTTCCCGCTACAGGGCATCCAGATGGTGTGTGAGA

Altered gDNA sequence snippet

GATCTCTTTCCCGCTACAGGACATCCAGATGGTGTGTGAGA

Original cDNA sequence snippet

CTTCTGGCTCAACCACCAGGGCATCCAGATGGTGTGTGAGA

Altered cDNA sequence snippet

CTTCTGGCTCAACCACCAGGACATCCAGATGGTGTGTGAGA

Wildtype AA sequence

MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SDVEMEAQKD EIICPSCNRT AHPLRHINND
MIVTDNNGAV KFPQLCKFCD VRFSTCDNQK SCMSNCSITS ICEKPQEVCV AVWRKNDENI
TLETVCHDPK LPYHDFILED AASPKCIMKE KKKPGETFFM CSCSSDECND NIIFSEEYNT
SNPDLLLVIF QVTGISLLPP LGVAISVIII FYCYRVNRQQ KLSSTWETGK TRKLMEFSEH
CAIILEDDRS DISSTCANNI NHNTELLPIE LDTLVGKGRF AEVYKAKLKQ NTSEQFETVA
VKIFPYEEYA SWKTEKDIFS DINLKHENIL QFLTAEERKT ELGKQYWLIT AFHAKGNLQE
YLTRHVISWE DLRKLGSSLA RGIAHLHSDH TPCGRPKMPI VHRDLKSSNI LVKNDLTCCL
CDFGLSLRLD PTLSVDDLAN SGQVGTARYM APEVLESRMN LENVESFKQT DVYSMALVLW
EMTSRCNAVG EVKDYEPPFG SKVREHPCVE SMKDNVLRDR GRPEIPSFWL NHQGIQMVCE
TLTECWDHDP EARLTAQCVA ERFSELEHLD RLSGRSCSEE KIPEDGSLNT TK*

Mutated AA sequence

MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SDVEMEAQKD EIICPSCNRT AHPLRHINND
MIVTDNNGAV KFPQLCKFCD VRFSTCDNQK SCMSNCSITS ICEKPQEVCV AVWRKNDENI
TLETVCHDPK LPYHDFILED AASPKCIMKE KKKPGETFFM CSCSSDECND NIIFSEEYNT
SNPDLLLVIF QVTGISLLPP LGVAISVIII FYCYRVNRQQ KLSSTWETGK TRKLMEFSEH
CAIILEDDRS DISSTCANNI NHNTELLPIE LDTLVGKGRF AEVYKAKLKQ NTSEQFETVA
VKIFPYEEYA SWKTEKDIFS DINLKHENIL QFLTAEERKT ELGKQYWLIT AFHAKGNLQE
YLTRHVISWE DLRKLGSSLA RGIAHLHSDH TPCGRPKMPI VHRDLKSSNI LVKNDLTCCL
CDFGLSLRLD PTLSVDDLAN SGQVGTARYM APEVLESRMN LENVESFKQT DVYSMALVLW
EMTSRCNAVG EVKDYEPPFG SKVREHPCVE SMKDNVLRDR GRPEIPSFWL NHQDIQMVCE
TLTECWDHDP EARLTAQCVA ERFSELEHLD RLSGRSCSEE KIPEDGSLNT TK*

Position of stopcodon in wt / mu CDS

1779 / 1779

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

593 / 593

Position of stopcodon in wt / mu cDNA

2062 / 2062

Position of start ATG in wt / mu cDNA

284 / 284

Last intron/exon boundary

1882

Theoretical NMD boundary in CDS

1548

Length of CDS

1779

Coding sequence (CDS) position

1601

cDNA position

1884

gDNA position

84944

Chromosomal position

30691421

Speed

0.05 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:

3:30691421G>A_1_ENST00000714389

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:30691421G>A (GRCh38)

Gene symbol

TGFBR2

Gene constraints

no data

Ensembl transcript ID

ENST00000714389.1

Genbank transcript ID

NM_001407129 (by similarity), NM_001407132 (by similarity), NM_001407136 (by similarity), NM_001407133 (by similarity), NM_001407135 (by similarity), NM_001407134 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1421G>A
g.84944G>A

AA changes

AAE:	G474D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs863223853
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		474	P	E	I	P	S	F	W	L	N	H	Q	G	I	Q	M	V	C	E	T	L	T	E	C	W
mutated	not conserved	474	P	E	I	P	S	F	W	L	N	H	Q	D	I	Q	M	V	C	E
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)	10.003	1
	10.003	1
(flanking)	0.771	0.999

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	84942	wt: 7.23 / mu: 7.76	-	wt: cccgctacag\|GGCATCCAGA mu: cccgctacag\|GACATCCAGA

Distance from splice site

2

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

3

Strand

1

Original gDNA sequence snippet

GATCTCTTTCCCGCTACAGGGCATCCAGATGGTGTGTGAGA

Altered gDNA sequence snippet

GATCTCTTTCCCGCTACAGGACATCCAGATGGTGTGTGAGA

Original cDNA sequence snippet

CTTCTGGCTCAACCACCAGGGCATCCAGATGGTGTGTGAGA

Altered cDNA sequence snippet

CTTCTGGCTCAACCACCAGGACATCCAGATGGTGTGTGAGA

Wildtype AA sequence

MIVTDNNGAV KFPQLCKFCD VRFSTCDNQK SCMSNCSITS ICEKPQEVCV AVWRKNDENI
TLETVCHDPK LPYHDFILED AASPKCIMKE KKKPGETFFM CSCSSDECND NIIFSEEYNT
SNPDLLLVIF QVTGISLLPP LGVAISVIII FYCYRVNRQQ KLSSTWETGK TRKLMEFSEH
CAIILEDDRS DISSTCANNI NHNTELLPIE LDTLVGKGRF AEVYKAKLKQ NTSEQFETVA
VKIFPYEEYA SWKTEKDIFS DINLKHENIL QFLTAEERKT ELGKQYWLIT AFHAKGNLQE
YLTRHVISWE DLRKLGSSLA RGIAHLHSDH TPCGRPKMPI VHRDLKSSNI LVKNDLTCCL
CDFGLSLRLD PTLSVDDLAN SGQVGTARYM APEVLESRMN LENVESFKQT DVYSMALVLW
EMTSRCNAVG EVKDYEPPFG SKVREHPCVE SMKDNVLRDR GRPEIPSFWL NHQGIQMVCE
TLTECWDHDP EARLTAQCVA ERFSELEHLD RLSGRSCSEE KIPEDGSLNT TK*

Mutated AA sequence

MIVTDNNGAV KFPQLCKFCD VRFSTCDNQK SCMSNCSITS ICEKPQEVCV AVWRKNDENI
TLETVCHDPK LPYHDFILED AASPKCIMKE KKKPGETFFM CSCSSDECND NIIFSEEYNT
SNPDLLLVIF QVTGISLLPP LGVAISVIII FYCYRVNRQQ KLSSTWETGK TRKLMEFSEH
CAIILEDDRS DISSTCANNI NHNTELLPIE LDTLVGKGRF AEVYKAKLKQ NTSEQFETVA
VKIFPYEEYA SWKTEKDIFS DINLKHENIL QFLTAEERKT ELGKQYWLIT AFHAKGNLQE
YLTRHVISWE DLRKLGSSLA RGIAHLHSDH TPCGRPKMPI VHRDLKSSNI LVKNDLTCCL
CDFGLSLRLD PTLSVDDLAN SGQVGTARYM APEVLESRMN LENVESFKQT DVYSMALVLW
EMTSRCNAVG EVKDYEPPFG SKVREHPCVE SMKDNVLRDR GRPEIPSFWL NHQDIQMVCE
TLTECWDHDP EARLTAQCVA ERFSELEHLD RLSGRSCSEE KIPEDGSLNT TK*

Position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

Position of stopcodon in wt / mu cDNA

1721 / 1721

Position of start ATG in wt / mu cDNA

123 / 123

Last intron/exon boundary

1541

Theoretical NMD boundary in CDS

1368

Length of CDS

1599

Coding sequence (CDS) position

1421

cDNA position

1543

gDNA position

84944

Chromosomal position

30691421

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:

3:30691421G>A_2_ENST00000714390

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:30691421G>A (GRCh38)

Gene symbol

TGFBR2

Gene constraints

no data

Ensembl transcript ID

ENST00000714390.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1421G>A
g.84944G>A

AA changes

AAE:	G474D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs863223853
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		474	P	E	I	P	S	F	W	L	N	H	Q	G	I	Q	M	V	C	E	T	L	T	E	C	W
mutated	not conserved	474	P	E	I	P	S	F	W	L	N	H	Q	D	I	Q	M	V	C	E
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)	10.003	1
	10.003	1
(flanking)	0.771	0.999

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	84942	wt: 7.23 / mu: 7.76	-	wt: cccgctacag\|GGCATCCAGA mu: cccgctacag\|GACATCCAGA

Distance from splice site

2

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

3

Strand

1

Original gDNA sequence snippet

GATCTCTTTCCCGCTACAGGGCATCCAGATGGTGTGTGAGA

Altered gDNA sequence snippet

GATCTCTTTCCCGCTACAGGACATCCAGATGGTGTGTGAGA

Original cDNA sequence snippet

CTTCTGGCTCAACCACCAGGGCATCCAGATGGTGTGTGAGA

Altered cDNA sequence snippet

CTTCTGGCTCAACCACCAGGACATCCAGATGGTGTGTGAGA

Wildtype AA sequence

MIVTDNNGAV KFPQLCKFCD VRFSTCDNQK SCMSNCSITS ICEKPQEVCV AVWRKNDENI
TLETVCHDPK LPYHDFILED AASPKCIMKE KKKPGETFFM CSCSSDECND NIIFSEEYNT
SNPDLLLVIF QVTGISLLPP LGVAISVIII FYCYRVNRQQ KLSSTWETGK TRKLMEFSEH
CAIILEDDRS DISSTCANNI NHNTELLPIE LDTLVGKGRF AEVYKAKLKQ NTSEQFETVA
VKIFPYEEYA SWKTEKDIFS DINLKHENIL QFLTAEERKT ELGKQYWLIT AFHAKGNLQE
YLTRHVISWE DLRKLGSSLA RGIAHLHSDH TPCGRPKMPI VHRDLKSSNI LVKNDLTCCL
CDFGLSLRLD PTLSVDDLAN SGQVGTARYM APEVLESRMN LENVESFKQT DVYSMALVLW
EMTSRCNAVG EVKDYEPPFG SKVREHPCVE SMKDNVLRDR GRPEIPSFWL NHQGIQMVCE
TLTECWDHDP EARLTAQCVA ERFSELEHLD RLSGRSCSEE KIPEDGSLNT TK*

Mutated AA sequence

MIVTDNNGAV KFPQLCKFCD VRFSTCDNQK SCMSNCSITS ICEKPQEVCV AVWRKNDENI
TLETVCHDPK LPYHDFILED AASPKCIMKE KKKPGETFFM CSCSSDECND NIIFSEEYNT
SNPDLLLVIF QVTGISLLPP LGVAISVIII FYCYRVNRQQ KLSSTWETGK TRKLMEFSEH
CAIILEDDRS DISSTCANNI NHNTELLPIE LDTLVGKGRF AEVYKAKLKQ NTSEQFETVA
VKIFPYEEYA SWKTEKDIFS DINLKHENIL QFLTAEERKT ELGKQYWLIT AFHAKGNLQE
YLTRHVISWE DLRKLGSSLA RGIAHLHSDH TPCGRPKMPI VHRDLKSSNI LVKNDLTCCL
CDFGLSLRLD PTLSVDDLAN SGQVGTARYM APEVLESRMN LENVESFKQT DVYSMALVLW
EMTSRCNAVG EVKDYEPPFG SKVREHPCVE SMKDNVLRDR GRPEIPSFWL NHQDIQMVCE
TLTECWDHDP EARLTAQCVA ERFSELEHLD RLSGRSCSEE KIPEDGSLNT TK*

Position of stopcodon in wt / mu CDS

1599 / 1599

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

533 / 533

Position of stopcodon in wt / mu cDNA

1710 / 1710

Position of start ATG in wt / mu cDNA

112 / 112

Last intron/exon boundary

1530

Theoretical NMD boundary in CDS

1368

Length of CDS

1599

Coding sequence (CDS) position

1421

cDNA position

1532

gDNA position

84944

Chromosomal position

30691421

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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MutationT@ster 2025

Variant:

3:30691421G>A_3_ENST00000714391

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:30691421G>A (GRCh38)

Gene symbol

TGFBR2

Gene constraints

no data

Ensembl transcript ID

ENST00000714391.1

Genbank transcript ID

NM_001407128 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1499G>A
g.84944G>A

AA changes

AAE:	G500D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs863223853
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		500	P	E	I	P	S	F	W	L	N	H	Q	G	I	Q	M	V	C	E	T	L	T	E	C	W
mutated	not conserved	500	P	E	I	P	S	F	W	L	N	H	Q	D	I	Q	M	V	C	E	T	L	T	E	C
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)	10.003	1
	10.003	1
(flanking)	0.771	0.999

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	84942	wt: 7.23 / mu: 7.76	-	wt: cccgctacag\|GGCATCCAGA mu: cccgctacag\|GACATCCAGA

Distance from splice site

2

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

3

Strand

1

Original gDNA sequence snippet

GATCTCTTTCCCGCTACAGGGCATCCAGATGGTGTGTGAGA

Altered gDNA sequence snippet

GATCTCTTTCCCGCTACAGGACATCCAGATGGTGTGTGAGA

Original cDNA sequence snippet

CTTCTGGCTCAACCACCAGGGCATCCAGATGGTGTGTGAGA

Altered cDNA sequence snippet

CTTCTGGCTCAACCACCAGGACATCCAGATGGTGTGTGAGA

Wildtype AA sequence

MEAQKDEIIC PSCNRTAHPL RHINNDMIVT DNNGAVKFPQ LCKFCDVRFS TCDNQKSCMS
NCSITSICEK PQEVCVAVWR KNDENITLET VCHDPKLPYH DFILEDAASP KCIMKEKKKP
GETFFMCSCS SDECNDNIIF SEEYNTSNPD LLLVIFQVTG ISLLPPLGVA ISVIIIFYCY
RVNRQQKLSS TWETGKTRKL MEFSEHCAII LEDDRSDISS TCANNINHNT ELLPIELDTL
VGKGRFAEVY KAKLKQNTSE QFETVAVKIF PYEEYASWKT EKDIFSDINL KHENILQFLT
AEERKTELGK QYWLITAFHA KGNLQEYLTR HVISWEDLRK LGSSLARGIA HLHSDHTPCG
RPKMPIVHRD LKSSNILVKN DLTCCLCDFG LSLRLDPTLS VDDLANSGQV GTARYMAPEV
LESRMNLENV ESFKQTDVYS MALVLWEMTS RCNAVGEVKD YEPPFGSKVR EHPCVESMKD
NVLRDRGRPE IPSFWLNHQG IQMVCETLTE CWDHDPEARL TAQCVAERFS ELEHLDRLSG
RSCSEEKIPE DGSLNTTK*

Mutated AA sequence

MEAQKDEIIC PSCNRTAHPL RHINNDMIVT DNNGAVKFPQ LCKFCDVRFS TCDNQKSCMS
NCSITSICEK PQEVCVAVWR KNDENITLET VCHDPKLPYH DFILEDAASP KCIMKEKKKP
GETFFMCSCS SDECNDNIIF SEEYNTSNPD LLLVIFQVTG ISLLPPLGVA ISVIIIFYCY
RVNRQQKLSS TWETGKTRKL MEFSEHCAII LEDDRSDISS TCANNINHNT ELLPIELDTL
VGKGRFAEVY KAKLKQNTSE QFETVAVKIF PYEEYASWKT EKDIFSDINL KHENILQFLT
AEERKTELGK QYWLITAFHA KGNLQEYLTR HVISWEDLRK LGSSLARGIA HLHSDHTPCG
RPKMPIVHRD LKSSNILVKN DLTCCLCDFG LSLRLDPTLS VDDLANSGQV GTARYMAPEV
LESRMNLENV ESFKQTDVYS MALVLWEMTS RCNAVGEVKD YEPPFGSKVR EHPCVESMKD
NVLRDRGRPE IPSFWLNHQD IQMVCETLTE CWDHDPEARL TAQCVAERFS ELEHLDRLSG
RSCSEEKIPE DGSLNTTK*

Position of stopcodon in wt / mu CDS

1677 / 1677

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

559 / 559

Position of stopcodon in wt / mu cDNA

1784 / 1784

Position of start ATG in wt / mu cDNA

108 / 108

Last intron/exon boundary

1604

Theoretical NMD boundary in CDS

1446

Length of CDS

1677

Coding sequence (CDS) position

1499

cDNA position

1606

gDNA position

84944

Chromosomal position

30691421

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

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