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: ENST00000499810
Querying Taster for transcript #2: ENST00000360541
Querying Taster for transcript #3: ENST00000503014
MT speed 1.37 s - this script 3.798456 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
ENST00000360541(MANE Select)	ETF1	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000499810	ETF1	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000503014	ETF1	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

5:138518814C>T_2_ENST00000360541

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:138518814C>T (GRCh38)

Gene symbol

ETF1

Gene constraints

LOEUF: 0.19, LOF (oe): 0.08, misssense (oe): 0.27, synonymous (oe): 0.82 ? (gnomAD)

Ensembl transcript ID

ENST00000360541.10

Genbank transcript ID

NM_004730 (exact from MANE)

UniProt / AlphaMissense peptide

ERF1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.140G>A
g.24423G>A

AA changes

AAE:	R47Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		47	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T	A
mutated	all conserved	47	S	L	I	I	P	P	K	D	Q	I	S	Q	V	A	K	M	L	A	D	E	F	G	T
Ptroglodytes	all identical	33	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T
Mmulatta	all identical	47	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T
Fcatus	all identical	47	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T
Mmusculus	all identical	47	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T
Ggallus	all identical	80	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T
Trubripes	all identical	47	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T
Drerio	no homologue
Dmelanogaster	all identical	47	S	L	I	I	P	P	K	D	Q	I	S	R	V	S	K	M	L	A	D	E	F	G	T
Celegans	all identical	55	S	L	I	I	P	P	K	D	Q	V	A	R	I	Q	R	M	L	A	E	E	Y	G	T
Xtropicalis	all identical	47	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T

Protein features

Start (aa)	End (aa)	Feature	Details
2	437	CHAIN		lost
45	59	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.826	1
	7.902	1
(flanking)	5.3	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

5

Strand

-1

Original gDNA sequence snippet

TCCCAAAGACCAGATTTCACGAGTGGCAAAAATGTTAGCGG

Altered gDNA sequence snippet

TCCCAAAGACCAGATTTCACAAGTGGCAAAAATGTTAGCGG

Original cDNA sequence snippet

TCCCAAAGACCAGATTTCACGAGTGGCAAAAATGTTAGCGG

Altered cDNA sequence snippet

TCCCAAAGACCAGATTTCACAAGTGGCAAAAATGTTAGCGG

Wildtype AA sequence

MADDPSAADR NVEIWKIKKL IKSLEAARGN GTSMISLIIP PKDQISRVAK MLADEFGTAS
NIKSRVNRLS VLGAITSVQQ RLKLYNKVPP NGLVVYCGTI VTEEGKEKKV NIDFEPFKPI
NTSLYLCDNK FHTEALTALL SDDSKFGFIV IDGSGALFGT LQGNTREVLH KFTVDLPKKH
GRGGQSALRF ARLRMEKRHN YVRKVAETAV QLFISGDKVN VAGLVLAGSA DFKTELSQSD
MFDQRLQSKV LKLVDISYGG ENGFNQAIEL STEVLSNVKF IQEKKLIGRY FDEISQDTGK
YCFGVEDTLK ALEMGAVEIL IVYENLDIMR YVLHCQGTEE EKILYLTPEQ EKDKSHFTDK
ETGQEHELIE SMPLLEWFAN NYKKFGATLE IVTDKSQEGS QFVKGFGGIG GILRYRVDFQ
GMEYQGGDDE FFDLDDY*

Mutated AA sequence

MADDPSAADR NVEIWKIKKL IKSLEAARGN GTSMISLIIP PKDQISQVAK MLADEFGTAS
NIKSRVNRLS VLGAITSVQQ RLKLYNKVPP NGLVVYCGTI VTEEGKEKKV NIDFEPFKPI
NTSLYLCDNK FHTEALTALL SDDSKFGFIV IDGSGALFGT LQGNTREVLH KFTVDLPKKH
GRGGQSALRF ARLRMEKRHN YVRKVAETAV QLFISGDKVN VAGLVLAGSA DFKTELSQSD
MFDQRLQSKV LKLVDISYGG ENGFNQAIEL STEVLSNVKF IQEKKLIGRY FDEISQDTGK
YCFGVEDTLK ALEMGAVEIL IVYENLDIMR YVLHCQGTEE EKILYLTPEQ EKDKSHFTDK
ETGQEHELIE SMPLLEWFAN NYKKFGATLE IVTDKSQEGS QFVKGFGGIG GILRYRVDFQ
GMEYQGGDDE FFDLDDY*

Position of stopcodon in wt / mu CDS

1314 / 1314

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

438 / 438

Position of stopcodon in wt / mu cDNA

1472 / 1472

Position of start ATG in wt / mu cDNA

159 / 159

Last intron/exon boundary

1389

Theoretical NMD boundary in CDS

1180

Length of CDS

1314

Coding sequence (CDS) position

140

cDNA position

298

gDNA position

24423

Chromosomal position

138518814

Speed

0.42 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:

5:138518814C>T_1_ENST00000499810

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr5:138518814C>T (GRCh38)

Gene symbol

ETF1

Gene constraints

LOEUF: 0.21, LOF (oe): 0.09, misssense (oe): 0.25, synonymous (oe): 0.76 ? (gnomAD)

Ensembl transcript ID

ENST00000499810.6

Genbank transcript ID

NM_001291975 (by similarity), NM_001364160 (by similarity), NM_001256302 (by similarity), NM_001291974 (by similarity)

UniProt / AlphaMissense peptide

ERF1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.41G>A
g.24423G>A

AA changes

AAE:	R14Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		14	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T	A
mutated	all conserved	14	S	L	I	I	P	P	K	D	Q	I	S	Q	V	A	K	M	L	A	D	E	F	G	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
2	437	CHAIN		lost
10	25	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.826	1
	7.902	1
(flanking)	5.3	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

5

Strand

-1

Original gDNA sequence snippet

TCCCAAAGACCAGATTTCACGAGTGGCAAAAATGTTAGCGG

Altered gDNA sequence snippet

TCCCAAAGACCAGATTTCACAAGTGGCAAAAATGTTAGCGG

Original cDNA sequence snippet

TCCCAAAGACCAGATTTCACGAGTGGCAAAAATGTTAGCGG

Altered cDNA sequence snippet

TCCCAAAGACCAGATTTCACAAGTGGCAAAAATGTTAGCGG

Wildtype AA sequence

MISLIIPPKD QISRVAKMLA DEFGTASNIK SRVNRLSVLG AITSVQQRLK LYNKVPPNGL
VVYCGTIVTE EGKEKKVNID FEPFKPINTS LYLCDNKFHT EALTALLSDD SKFGFIVIDG
SGALFGTLQG NTREVLHKFT VDLPKKHGRG GQSALRFARL RMEKRHNYVR KVAETAVQLF
ISGDKVNVAG LVLAGSADFK TELSQSDMFD QRLQSKVLKL VDISYGGENG FNQAIELSTE
VLSNVKFIQE KKLIGRYFDE ISQDTGKYCF GVEDTLKALE MGAVEILIVY ENLDIMRYVL
HCQGTEEEKI LYLTPEQEKD KSHFTDKETG QEHELIESMP LLEWFANNYK KFGATLEIVT
DKSQEGSQFV KGFGGIGGIL RYRVDFQGME YQGGDDEFFD LDDY*

Mutated AA sequence

MISLIIPPKD QISQVAKMLA DEFGTASNIK SRVNRLSVLG AITSVQQRLK LYNKVPPNGL
VVYCGTIVTE EGKEKKVNID FEPFKPINTS LYLCDNKFHT EALTALLSDD SKFGFIVIDG
SGALFGTLQG NTREVLHKFT VDLPKKHGRG GQSALRFARL RMEKRHNYVR KVAETAVQLF
ISGDKVNVAG LVLAGSADFK TELSQSDMFD QRLQSKVLKL VDISYGGENG FNQAIELSTE
VLSNVKFIQE KKLIGRYFDE ISQDTGKYCF GVEDTLKALE MGAVEILIVY ENLDIMRYVL
HCQGTEEEKI LYLTPEQEKD KSHFTDKETG QEHELIESMP LLEWFANNYK KFGATLEIVT
DKSQEGSQFV KGFGGIGGIL RYRVDFQGME YQGGDDEFFD LDDY*

Position of stopcodon in wt / mu CDS

1215 / 1215

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

405 / 405

Position of stopcodon in wt / mu cDNA

1664 / 1664

Position of start ATG in wt / mu cDNA

450 / 450

Last intron/exon boundary

1581

Theoretical NMD boundary in CDS

1081

Length of CDS

1215

Coding sequence (CDS) position

41

cDNA position

490

gDNA position

24423

Chromosomal position

138518814

Speed

0.49 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:

5:138518814C>T_3_ENST00000503014

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr5:138518814C>T (GRCh38)

Gene symbol

ETF1

Gene constraints

LOEUF: 0.23, LOF (oe): 0.11, misssense (oe): 0.27, synonymous (oe): 0.75 ? (gnomAD)

Ensembl transcript ID

ENST00000503014.5

Genbank transcript ID

NM_001282185 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.98G>A
g.24423G>A

AA changes

AAE:	R33Q	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		33	S	L	I	I	P	P	K	D	Q	I	S	R	V	A	K	M	L	A	D	E	F	G	T	A
mutated	all conserved	33	S	L	I	I	P	P	K	D	Q	I	S	Q	V	A	K	M	L	A	D	E	F	G	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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	4.826	1
	7.902	1
(flanking)	5.3	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

5

Strand

-1

Original gDNA sequence snippet

TCCCAAAGACCAGATTTCACGAGTGGCAAAAATGTTAGCGG

Altered gDNA sequence snippet

TCCCAAAGACCAGATTTCACAAGTGGCAAAAATGTTAGCGG

Original cDNA sequence snippet

TCCCAAAGACCAGATTTCACGAGTGGCAAAAATGTTAGCGG

Altered cDNA sequence snippet

TCCCAAAGACCAGATTTCACAAGTGGCAAAAATGTTAGCGG

Wildtype AA sequence

MKQDVLNCTE GPIHSNGTSM ISLIIPPKDQ ISRVAKMLAD EFGTASNIKS RVNRLSVLGA
ITSVQQRLKL YNKVPPNGLV VYCGTIVTEE GKEKKVNIDF EPFKPINTSL YLCDNKFHTE
ALTALLSDDS KFGFIVIDGS GALFGTLQGN TREVLHKFTV DLPKKHGRGG QSALRFARLR
MEKRHNYVRK VAETAVQLFI SGDKVNVAGL VLAGSADFKT ELSQSDMFDQ RLQSKVLKLV
DISYGGENGF NQAIELSTEV LSNVKFIQEK KLIGRYFDEI SQDTGKYCFG VEDTLKALEM
GAVEILIVYE NLDIMRYVLH CQGTEEEKIL YLTPEQEKDK SHFTDKETGQ EHELIESMPL
LEWFANNYKK FGATLEIVTD KSQEGSQFVK GFGGIGGILR YRVDFQGMEY QGGDDEFFDL
DDY*

Mutated AA sequence

MKQDVLNCTE GPIHSNGTSM ISLIIPPKDQ ISQVAKMLAD EFGTASNIKS RVNRLSVLGA
ITSVQQRLKL YNKVPPNGLV VYCGTIVTEE GKEKKVNIDF EPFKPINTSL YLCDNKFHTE
ALTALLSDDS KFGFIVIDGS GALFGTLQGN TREVLHKFTV DLPKKHGRGG QSALRFARLR
MEKRHNYVRK VAETAVQLFI SGDKVNVAGL VLAGSADFKT ELSQSDMFDQ RLQSKVLKLV
DISYGGENGF NQAIELSTEV LSNVKFIQEK KLIGRYFDEI SQDTGKYCFG VEDTLKALEM
GAVEILIVYE NLDIMRYVLH CQGTEEEKIL YLTPEQEKDK SHFTDKETGQ EHELIESMPL
LEWFANNYKK FGATLEIVTD KSQEGSQFVK GFGGIGGILR YRVDFQGMEY QGGDDEFFDL
DDY*

Position of stopcodon in wt / mu CDS

1272 / 1272

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

424 / 424

Position of stopcodon in wt / mu cDNA

1421 / 1421

Position of start ATG in wt / mu cDNA

150 / 150

Last intron/exon boundary

1338

Theoretical NMD boundary in CDS

1138

Length of CDS

1272

Coding sequence (CDS) position

98

cDNA position

247

gDNA position

24423

Chromosomal position

138518814

Speed

0.46 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