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: ENST00000366837
Querying Taster for transcript #2: ENST00000614058
Querying Taster for transcript #3: ENST00000272167
MT speed 1.02 s - this script 3.484491 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
ENST00000366837	EPHX1	Benign	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000614058	EPHX1	Benign	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000272167(MANE Select)	EPHX1	Benign	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

1:225831932T>C_1_ENST00000366837

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Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr1:225831932T>C (GRCh38)

Gene symbol

EPHX1

Gene constraints

LOEUF: 1.10, LOF (oe): 0.85, misssense (oe): 0.92, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000366837.5

Genbank transcript ID

NM_000120 (by similarity), NM_001378430 (by similarity), NM_001378428 (by similarity)

UniProt / AlphaMissense peptide

HYEP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.337T>C
g.21809T>C

AA changes

AAE:	Y113H	?
Score:	83

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1051740
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		113	D	W	K	K	Q	V	E	I	L	N	R	Y	P	H	F	K	T	K	I	E	G	L	D	I
mutated	all conserved	113	D	W	K	K	Q	V	E	I	L	N	R	H	P	H	F	K	T	K	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

Start (aa)	End (aa)	Feature	Details
1	455	CHAIN		lost
22	455	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.057	0.01
	7.789	1
(flanking)	4.519	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

1

Strand

1

Original gDNA sequence snippet

AGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAG

Altered gDNA sequence snippet

AGGTGGAGATTCTCAACAGACACCCTCACTTCAAGACTAAG

Original cDNA sequence snippet

AGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAG

Altered cDNA sequence snippet

AGGTGGAGATTCTCAACAGACACCCTCACTTCAAGACTAAG

Wildtype AA sequence

MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP FKVETSDEEI
HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE FDWKKQVEIL NRYPHFKTKI
EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV
ICPSIPGYGF SEASSKKGFN SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP
SHVKGLHLNM ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM
HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS LDDLLTNVML
YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA FPFELLHTPE KWVRFKYPKL
ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS VLERQ*

Mutated AA sequence

MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP FKVETSDEEI
HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE FDWKKQVEIL NRHPHFKTKI
EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV
ICPSIPGYGF SEASSKKGFN SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP
SHVKGLHLNM ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM
HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS LDDLLTNVML
YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA FPFELLHTPE KWVRFKYPKL
ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS VLERQ*

Position of stopcodon in wt / mu CDS

1368 / 1368

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

456 / 456

Position of stopcodon in wt / mu cDNA

1564 / 1564

Position of start ATG in wt / mu cDNA

197 / 197

Last intron/exon boundary

1362

Theoretical NMD boundary in CDS

1115

Length of CDS

1368

Coding sequence (CDS) position

337

cDNA position

533

gDNA position

21809

Chromosomal position

225831932

Speed

0.35 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:

1:225831932T>C_2_ENST00000614058

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr1:225831932T>C (GRCh38)

Gene symbol

EPHX1

Gene constraints

LOEUF: 1.10, LOF (oe): 0.85, misssense (oe): 0.92, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000614058.4

Genbank transcript ID

NM_001291163 (by similarity)

UniProt / AlphaMissense peptide

HYEP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.337T>C
g.21809T>C

AA changes

AAE:	Y113H	?
Score:	83

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1051740
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		113	D	W	K	K	Q	V	E	I	L	N	R	Y	P	H	F	K	T	K	I	E	G	L	D	I
mutated	all conserved	113	D	W	K	K	Q	V	E	I	L	N	R	H	P	H	F	K	T	K	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

Start (aa)	End (aa)	Feature	Details
1	455	CHAIN		lost
22	455	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.057	0.01
	7.789	1
(flanking)	4.519	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

1

Strand

1

Original gDNA sequence snippet

AGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAG

Altered gDNA sequence snippet

AGGTGGAGATTCTCAACAGACACCCTCACTTCAAGACTAAG

Original cDNA sequence snippet

AGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAG

Altered cDNA sequence snippet

AGGTGGAGATTCTCAACAGACACCCTCACTTCAAGACTAAG

Wildtype AA sequence

MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP FKVETSDEEI
HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE FDWKKQVEIL NRYPHFKTKI
EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV
ICPSIPGYGF SEASSKKGFN SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP
SHVKGLHLNM ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM
HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS LDDLLTNVML
YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA FPFELLHTPE KWVRFKYPKL
ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS VLERQ*

Mutated AA sequence

MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP FKVETSDEEI
HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE FDWKKQVEIL NRHPHFKTKI
EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV
ICPSIPGYGF SEASSKKGFN SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP
SHVKGLHLNM ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM
HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS LDDLLTNVML
YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA FPFELLHTPE KWVRFKYPKL
ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS VLERQ*

Position of stopcodon in wt / mu CDS

1368 / 1368

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

456 / 456

Position of stopcodon in wt / mu cDNA

1577 / 1577

Position of start ATG in wt / mu cDNA

210 / 210

Last intron/exon boundary

1375

Theoretical NMD boundary in CDS

1115

Length of CDS

1368

Coding sequence (CDS) position

337

cDNA position

546

gDNA position

21809

Chromosomal position

225831932

Speed

0.31 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:

1:225831932T>C_3_ENST00000272167

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr1:225831932T>C (GRCh38)

Gene symbol

EPHX1

Gene constraints

LOEUF: 1.10, LOF (oe): 0.85, misssense (oe): 0.92, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000272167.10

Genbank transcript ID

NM_001136018 (exact from MANE), NM_001378426 (by similarity), NM_001378429 (by similarity), NM_001378431 (by similarity), NM_001378432 (by similarity), NM_001378427 (by similarity)

UniProt / AlphaMissense peptide

HYEP_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.337T>C
g.21809T>C

AA changes

AAE:	Y113H	?
Score:	83

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1051740
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		113	D	W	K	K	Q	V	E	I	L	N	R	Y	P	H	F	K	T	K	I	E	G	L	D	I
mutated	all conserved	113	D	W	K	K	Q	V	E	I	L	N	R	H	P	H	F	K	T	K	I
Ptroglodytes	all identical	113	D	W	K	K	Q	V	E	I	L	N	R	Y	P	H	F	K	T	K	I
Mmulatta	all identical	113	N	W	K	K	Q	V	E	I	L	N	R	Y	P	H	F	K	T	K	I
Fcatus	all identical	227	D	W	R	K	Q	V	E	M	L	N	R	Y	P	H	F	K	T	R	I
Mmusculus	all identical	113	D	W	R	K	Q	V	E	I	L	N	Q	Y	P	H	F	K	T	K	I
Ggallus	all identical	160	N	W	K	K	Q	V	E	V	L	N	K	Y	P	H	F	K	T	K
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	not conserved	1064	K	W	S	E	R	E	E	Y	L	K	K	L	D	H	Y	Q	T	E	I	Q	G	L	K
Celegans	all conserved	11030	D	W	R	K	Q	E	A	T	I	N	Q	F	P	Q	F	K	T	E	I	E	G	L	Q
Xtropicalis	all conserved	113	N	W	R	K	Q	L	D	I	L	N	K	F	P	H	F	K	T	K	I

Protein features

Start (aa)	End (aa)	Feature	Details
1	455	CHAIN		lost
22	455	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.057	0.01
	7.789	1
(flanking)	4.519	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

1

Strand

1

Original gDNA sequence snippet

AGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAG

Altered gDNA sequence snippet

AGGTGGAGATTCTCAACAGACACCCTCACTTCAAGACTAAG

Original cDNA sequence snippet

AGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAG

Altered cDNA sequence snippet

AGGTGGAGATTCTCAACAGACACCCTCACTTCAAGACTAAG

Wildtype AA sequence

MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP FKVETSDEEI
HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE FDWKKQVEIL NRYPHFKTKI
EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV
ICPSIPGYGF SEASSKKGFN SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP
SHVKGLHLNM ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM
HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS LDDLLTNVML
YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA FPFELLHTPE KWVRFKYPKL
ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS VLERQ*

Mutated AA sequence

MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP FKVETSDEEI
HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE FDWKKQVEIL NRHPHFKTKI
EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV
ICPSIPGYGF SEASSKKGFN SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP
SHVKGLHLNM ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM
HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS LDDLLTNVML
YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA FPFELLHTPE KWVRFKYPKL
ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS VLERQ*

Position of stopcodon in wt / mu CDS

1368 / 1368

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

456 / 456

Position of stopcodon in wt / mu cDNA

1419 / 1419

Position of start ATG in wt / mu cDNA

52 / 52

Last intron/exon boundary

1217

Theoretical NMD boundary in CDS

1115

Length of CDS

1368

Coding sequence (CDS) position

337

cDNA position

388

gDNA position

21809

Chromosomal position

225831932

Speed

0.36 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