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: ENST00000539627
Querying Taster for transcript #2: ENST00000221930
Querying Taster for transcript #3: ENST00000600196
Querying Taster for transcript #4: ENST00000677934
MT speed 0.35 s - this script 2.737508 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
ENST00000539627	TMEM91	Benign	9\|191	without_aae	No	Single base exchange	N/A
ENST00000600196	TGFB1	Benign	19\|81	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000677934	TGFB1	Benign	19\|81	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000221930(MANE Select)	TGFB1	Benign	23\|77	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

19:41352971C>T_1_ENST00000539627

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 9|191 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:41352971C>T (GRCh38)

Gene symbol

TMEM91

Gene constraints

LOEUF: 1.05, LOF (oe): 0.50, misssense (oe): 0.79, synonymous (oe): 0.79 ? (gnomAD)

Ensembl transcript ID

ENST00000539627.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-30+1769C>T
g.2061C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1800471
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	7	7

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.373	0.876
	0.754	0.95
(flanking)	2.295	0.998

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

19

Strand

1

Original gDNA sequence snippet

TGGATAGTCCCGCGGCCGGCCGGCCAGGCGTCAGCACCAGT

Altered gDNA sequence snippet

TGGATAGTCCCGCGGCCGGCTGGCCAGGCGTCAGCACCAGT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MDSPSLRELQ QPLLEGTECE TPAQKPGRHE LGSPLREIAF AESLRGLQFL SPPLPSVSAG
LGEPRPPDVE DMSSSDSDSD WDGGSRLSPF LPHDHLGLAV FSMLCCFWPV GIAAFCLAQK
VSLCVGLGGD WA*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

322 / 322

Last intron/exon boundary

531

Theoretical NMD boundary in CDS

159

Length of CDS

399

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

2061

Chromosomal position

41352971

Speed

0.01 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:

19:41352971C>T_3_ENST00000600196

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 19|81 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:41352971C>T (GRCh38)

Gene symbol

TGFB1

Gene constraints

LOEUF: 0.91, LOF (oe): 0.62, misssense (oe): 0.96, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000600196.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.74G>A
g.952G>A

AA changes

AAE:	R25Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1800471
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		25	P	L	L	W	L	L	V	L	T	P	G	R	P	A	A	G	L	S	T	C	K	T	I	D
mutated	all conserved	25	P	L	L	W	L	L	V	L	T	P	G	Q	P	A	A	G	L	S	T	C	K	T	I
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)	0.373	0.876
	0.754	0.95
(flanking)	2.295	0.998

?

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

19

Strand

-1

Original gDNA sequence snippet

ACTGGTGCTGACGCCTGGCCGGCCGGCCGCGGGACTATCCA

Altered gDNA sequence snippet

ACTGGTGCTGACGCCTGGCCAGCCGGCCGCGGGACTATCCA

Original cDNA sequence snippet

ACTGGTGCTGACGCCTGGCCGGCCGGCCGCGGGACTATCCA

Altered cDNA sequence snippet

ACTGGTGCTGACGCCTGGCCAGCCGGCCGCGGGACTATCCA

Wildtype AA sequence

MPPSGLRLLP LLLPLLWLLV LTPGRPAAGL STCKTIDMEL VKRKRIEAIR GQILSKLRLA
SPPSQGEVPP GPLPEAVLAL YNSTRDRVAG ESAEPEPEPE ADYYAKEVTR VLMVETHNEI
YDKFKQSTHS IYMFFNTSEL REAVPEPVLL SRAELRLLRL KLKVEQHVEL YQKYSNNSWR
YLSNRLLAPS DSPEWLSFDV TGVVRQWLSR GGEIEGFRLS AHCSCDSRDN TLQVDINAPR
RRTAACGSCT LTSARTSAGS GSTSPRATMP TSASGPAPTF GAWTRSTARY VWPTGLRDAL
GGSQDGGRGE RKRSKVREVL ALYNQHNPGA SAAPCCVPQA LEPLPIVYYV GRKPKVEQLS
NMIVRSCKCS *

Mutated AA sequence

MPPSGLRLLP LLLPLLWLLV LTPGQPAAGL STCKTIDMEL VKRKRIEAIR GQILSKLRLA
SPPSQGEVPP GPLPEAVLAL YNSTRDRVAG ESAEPEPEPE ADYYAKEVTR VLMVETHNEI
YDKFKQSTHS IYMFFNTSEL REAVPEPVLL SRAELRLLRL KLKVEQHVEL YQKYSNNSWR
YLSNRLLAPS DSPEWLSFDV TGVVRQWLSR GGEIEGFRLS AHCSCDSRDN TLQVDINAPR
RRTAACGSCT LTSARTSAGS GSTSPRATMP TSASGPAPTF GAWTRSTARY VWPTGLRDAL
GGSQDGGRGE RKRSKVREVL ALYNQHNPGA SAAPCCVPQA LEPLPIVYYV GRKPKVEQLS
NMIVRSCKCS *

Position of stopcodon in wt / mu CDS

1113 / 1113

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

371 / 371

Position of stopcodon in wt / mu cDNA

1113 / 1113

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

954

Theoretical NMD boundary in CDS

903

Length of CDS

1113

Coding sequence (CDS) position

74

cDNA position

74

gDNA position

952

Chromosomal position

41352971

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:

19:41352971C>T_4_ENST00000677934

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 19|81 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:41352971C>T (GRCh38)

Gene symbol

TGFB1

Gene constraints

LOEUF: 0.92, LOF (oe): 0.62, misssense (oe): 0.95, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000677934.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.74G>A
g.952G>A

AA changes

AAE:	R25Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1800471
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		25	P	L	L	W	L	L	V	L	T	P	G	R	P	A	A	G	L	S	T	C	K	T	I	D
mutated	all conserved	25	P	L	L	W	L	L	V	L	T	P	G	Q	P	A	A	G	L	S	T	C	K	T	I
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)	0.373	0.876
	0.754	0.95
(flanking)	2.295	0.998

?

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

19

Strand

-1

Original gDNA sequence snippet

ACTGGTGCTGACGCCTGGCCGGCCGGCCGCGGGACTATCCA

Altered gDNA sequence snippet

ACTGGTGCTGACGCCTGGCCAGCCGGCCGCGGGACTATCCA

Original cDNA sequence snippet

ACTGGTGCTGACGCCTGGCCGGCCGGCCGCGGGACTATCCA

Altered cDNA sequence snippet

ACTGGTGCTGACGCCTGGCCAGCCGGCCGCGGGACTATCCA

Wildtype AA sequence

MPPSGLRLLP LLLPLLWLLV LTPGRPAAGL STCKTIDMEL VKRKRIEAIR GQILSKLRLA
SPPSQGEVPP GPLPEAVLAL YNSTRDRVAG ESAEPEPEPE ADYYAKEVTR VLMVETHNEI
YDKFKQSTHS IYMFFNTSEL REAVPEPVLL SRAELRLLRL KLKVEQHVEL YQKYSNNSWR
YLSNRLLAPS DSPEWLSFDV TGVVRQWLSR GAPRRRTAAC GSCTLTSART SAGSGSTSPR
ATMPTSASGP APTFGAWTRS TARSWPCTTS ITRAPRRRRA ACRRRWSRCP SCTTWAASPR
WSSCPT*

Mutated AA sequence

MPPSGLRLLP LLLPLLWLLV LTPGQPAAGL STCKTIDMEL VKRKRIEAIR GQILSKLRLA
SPPSQGEVPP GPLPEAVLAL YNSTRDRVAG ESAEPEPEPE ADYYAKEVTR VLMVETHNEI
YDKFKQSTHS IYMFFNTSEL REAVPEPVLL SRAELRLLRL KLKVEQHVEL YQKYSNNSWR
YLSNRLLAPS DSPEWLSFDV TGVVRQWLSR GAPRRRTAAC GSCTLTSART SAGSGSTSPR
ATMPTSASGP APTFGAWTRS TARSWPCTTS ITRAPRRRRA ACRRRWSRCP SCTTWAASPR
WSSCPT*

Position of stopcodon in wt / mu CDS

921 / 921

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

307 / 307

Position of stopcodon in wt / mu cDNA

921 / 921

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

788

Theoretical NMD boundary in CDS

737

Length of CDS

921

Coding sequence (CDS) position

74

cDNA position

74

gDNA position

952

Chromosomal position

41352971

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:

19:41352971C>T_2_ENST00000221930

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 23|77 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:41352971C>T (GRCh38)

Gene symbol

TGFB1

Gene constraints

LOEUF: 0.68, LOF (oe): 0.46, misssense (oe): 0.90, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000221930.6

Genbank transcript ID

NM_000660 (exact from MANE)

UniProt / AlphaMissense peptide

TGFB1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.74G>A
g.952G>A

AA changes

AAE:	R25Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1800471
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	7	7

Protein conservation

Species	Match	AA	Alignment
Human		25	P	L	L	W	L	L	V	L	T	P	G	R	P	A	A	G	L	S	T	C	K	T	I	D
mutated	all conserved	25	P	L	L	W	L	L	V	L	T	P	G	Q	P	A	A	G	L	S	T	C	K	T	I
Ptroglodytes	all identical	25	P	L	L	W	L	L	V	L	T	P	G	R	P	A	A	G	L	S	T	C	K	T	I
Mmulatta	all identical	25	P	L	L	W	L	L	V	L	T	P	G	R	P	A	A	G	L	S	T	C	K	T	I
Fcatus	all identical	25	P	L	L	W	L	L	V	L	T	P	G	R	P	A	A	G	L	S	T	C	K	T	I
Mmusculus	all identical	25	P	L	P	W	L	L	V	L	T	P	G	R	P	A	A	G	L	S	T	C	K	T	I
Ggallus	no homologue
Trubripes	not conserved	15	T	L	L	T	L	V	I	F	Y	M	V	G	N	I	S	G	M	S	T	C	K	T	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	29	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.373	0.876
	0.754	0.95
(flanking)	2.295	0.998

?

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

19

Strand

-1

Original gDNA sequence snippet

ACTGGTGCTGACGCCTGGCCGGCCGGCCGCGGGACTATCCA

Altered gDNA sequence snippet

ACTGGTGCTGACGCCTGGCCAGCCGGCCGCGGGACTATCCA

Original cDNA sequence snippet

ACTGGTGCTGACGCCTGGCCGGCCGGCCGCGGGACTATCCA

Altered cDNA sequence snippet

ACTGGTGCTGACGCCTGGCCAGCCGGCCGCGGGACTATCCA

Wildtype AA sequence

MPPSGLRLLP LLLPLLWLLV LTPGRPAAGL STCKTIDMEL VKRKRIEAIR GQILSKLRLA
SPPSQGEVPP GPLPEAVLAL YNSTRDRVAG ESAEPEPEPE ADYYAKEVTR VLMVETHNEI
YDKFKQSTHS IYMFFNTSEL REAVPEPVLL SRAELRLLRL KLKVEQHVEL YQKYSNNSWR
YLSNRLLAPS DSPEWLSFDV TGVVRQWLSR GGEIEGFRLS AHCSCDSRDN TLQVDINGFT
TGRRGDLATI HGMNRPFLLL MATPLERAQH LQSSRHRRAL DTNYCFSSTE KNCCVRQLYI
DFRKDLGWKW IHEPKGYHAN FCLGPCPYIW SLDTQYSKVL ALYNQHNPGA SAAPCCVPQA
LEPLPIVYYV GRKPKVEQLS NMIVRSCKCS *

Mutated AA sequence

MPPSGLRLLP LLLPLLWLLV LTPGQPAAGL STCKTIDMEL VKRKRIEAIR GQILSKLRLA
SPPSQGEVPP GPLPEAVLAL YNSTRDRVAG ESAEPEPEPE ADYYAKEVTR VLMVETHNEI
YDKFKQSTHS IYMFFNTSEL REAVPEPVLL SRAELRLLRL KLKVEQHVEL YQKYSNNSWR
YLSNRLLAPS DSPEWLSFDV TGVVRQWLSR GGEIEGFRLS AHCSCDSRDN TLQVDINGFT
TGRRGDLATI HGMNRPFLLL MATPLERAQH LQSSRHRRAL DTNYCFSSTE KNCCVRQLYI
DFRKDLGWKW IHEPKGYHAN FCLGPCPYIW SLDTQYSKVL ALYNQHNPGA SAAPCCVPQA
LEPLPIVYYV GRKPKVEQLS NMIVRSCKCS *

Position of stopcodon in wt / mu CDS

1173 / 1173

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

391 / 391

Position of stopcodon in wt / mu cDNA

2051 / 2051

Position of start ATG in wt / mu cDNA

879 / 879

Last intron/exon boundary

1892

Theoretical NMD boundary in CDS

963

Length of CDS

1173

Coding sequence (CDS) position

74

cDNA position

952

gDNA position

952

Chromosomal position

41352971

Speed

0.12 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