MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000243997
Querying Taster for transcript #2: ENST00000395663
Querying Taster for transcript #3: ENST00000395659
MT speed 0.36 s - this script 2.77016 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000243997(MANE Select)	ATP5F1E	Deleterious	76\|24	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000395663	ATP5F1E	Deleterious	76\|24	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000395659	ATP5F1E	Deleterious	76\|24	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

20:59030311C>T_1_ENST00000243997

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:59030311C>T (GRCh38)

Gene symbol

ATP5F1E

Gene constraints

LOEUF: 1.65, LOF (oe): 0.83, misssense (oe): 1.04, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000243997.8

Genbank transcript ID

NM_006886 (exact from MANE)

UniProt / AlphaMissense peptide

ATP5E_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.151G>A
g.2035G>A

AA changes

AAE:	E51K	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs535707067
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	99	100

Protein conservation

Species	Match	AA	Alignment
Human		51	G	S	N	V	K	I	V	K	V	K	K	E	*
mutated	all conserved	51	G	S	N	V	K	I	V	K	V	K	K	K
Ptroglodytes	all identical	51	G	S	S	V	K	I	V	K	V	K	K	E
Mmulatta	all identical	51	G	S	S	V	K	I	V	K	V	K	K	E
Fcatus	no homologue
Mmusculus	all conserved	51	G	S	S	I	K	I	V	K	V	S	K	K
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	51	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.79	0.999
	2.749	1
(flanking)	1.328	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

9

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

20

Strand

-1

Original gDNA sequence snippet

AAATTGTGAAAGTAAAGAAGGAATAATCTGTAAGTTATGGA

Altered gDNA sequence snippet

AAATTGTGAAAGTAAAGAAGAAATAATCTGTAAGTTATGGA

Original cDNA sequence snippet

AAATTGTGAAAGTAAAGAAGGAATAATCTACCCTGACTAAA

Altered cDNA sequence snippet

AAATTGTGAAAGTAAAGAAGAAATAATCTACCCTGACTAAA

Wildtype AA sequence

MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK E*

Mutated AA sequence

MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK K*

Position of stopcodon in wt / mu CDS

156 / 156

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

52 / 52

Position of stopcodon in wt / mu cDNA

240 / 240

Position of start ATG in wt / mu cDNA

85 / 85

Last intron/exon boundary

243

Theoretical NMD boundary in CDS

108

Length of CDS

156

Coding sequence (CDS) position

151

cDNA position

235

gDNA position

2035

Chromosomal position

59030311

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

MutationT@ster 2025

Variant:

20:59030311C>T_2_ENST00000395663

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:59030311C>T (GRCh38)

Gene symbol

ATP5F1E

Gene constraints

LOEUF: 1.65, LOF (oe): 0.83, misssense (oe): 1.04, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000395663.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ATP5E_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.151G>A
g.2035G>A

AA changes

AAE:	E51K	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs535707067
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	99	100

Protein conservation

Species	Match	AA	Alignment
Human		51	G	S	N	V	K	I	V	K	V	K	K	E	*
mutated	all conserved	51	G	S	N	V	K	I	V	K	V	K	K	K
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	51	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.79	0.999
	2.749	1
(flanking)	1.328	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

9

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

20

Strand

-1

Original gDNA sequence snippet

AAATTGTGAAAGTAAAGAAGGAATAATCTGTAAGTTATGGA

Altered gDNA sequence snippet

AAATTGTGAAAGTAAAGAAGAAATAATCTGTAAGTTATGGA

Original cDNA sequence snippet

AAATTGTGAAAGTAAAGAAGGAATAATCTGTTTGGGAAGTA

Altered cDNA sequence snippet

AAATTGTGAAAGTAAAGAAGAAATAATCTGTTTGGGAAGTA

Wildtype AA sequence

MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK E*

Mutated AA sequence

MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK K*

Position of stopcodon in wt / mu CDS

156 / 156

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

52 / 52

Position of stopcodon in wt / mu cDNA

197 / 197

Position of start ATG in wt / mu cDNA

42 / 42

Last intron/exon boundary

200

Theoretical NMD boundary in CDS

108

Length of CDS

156

Coding sequence (CDS) position

151

cDNA position

192

gDNA position

2035

Chromosomal position

59030311

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:

20:59030311C>T_3_ENST00000395659

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 76|24 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr20:59030311C>T (GRCh38)

Gene symbol

ATP5F1E

Gene constraints

LOEUF: 1.65, LOF (oe): 0.83, misssense (oe): 1.04, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000395659.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ATP5E_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.151G>A
g.2035G>A

AA changes

AAE:	E51K	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs535707067
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	99	100

Protein conservation

Species	Match	AA	Alignment
Human		51	G	S	N	V	K	I	V	K	V	K	K	E	*
mutated	all conserved	51	G	S	N	V	K	I	V	K	V	K	K	K
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	51	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.79	0.999
	2.749	1
(flanking)	1.328	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

20

Strand

-1

Original gDNA sequence snippet

AAATTGTGAAAGTAAAGAAGGAATAATCTGTAAGTTATGGA

Altered gDNA sequence snippet

AAATTGTGAAAGTAAAGAAGAAATAATCTGTAAGTTATGGA

Original cDNA sequence snippet

AAATTGTGAAAGTAAAGAAGGAATAATCTGTAAGTTATGGA

Altered cDNA sequence snippet

AAATTGTGAAAGTAAAGAAGAAATAATCTGTAAGTTATGGA

Wildtype AA sequence

MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK E*

Mutated AA sequence

MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK K*

Position of stopcodon in wt / mu CDS

156 / 156

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

52 / 52

Position of stopcodon in wt / mu cDNA

250 / 250

Position of start ATG in wt / mu cDNA

95 / 95

Last intron/exon boundary

126

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

156

Coding sequence (CDS) position

151

cDNA position

245

gDNA position

2035

Chromosomal position

59030311

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