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: ENST00000258484
MT speed 0.51 s - this script 2.973228 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000258484(MANE Select)	EPC2	Deleterious	88\|12	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

2:148743737T>G_1_ENST00000258484

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr2:148743737T>G (GRCh38)

Gene symbol

EPC2

Gene constraints

LOEUF: 0.20, LOF (oe): 0.11, misssense (oe): 0.77, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000258484.11

Genbank transcript ID

NM_015630 (exact from MANE)

UniProt / AlphaMissense peptide

EPC2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.429T>G
g.99298T>G

AA changes

AAE:	I143M	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs142941703
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	4	4

Protein conservation

Species	Match	AA	Alignment
Human		143	M	E	I	K	P	L	Q	F	E	I	M	I	D	R	L	E	K	A	S	S	N	Q	L	V
mutated	all conserved	143	M	E	I	K	P	L	Q	F	E	I	M	M	D	R	L	E	K	A	S	S	N	Q	L
Ptroglodytes	all identical	143	M	E	I	K	P	L	Q	F	E	I	M	I	D	R	L	E	K	A	S	S	N	Q	L
Mmulatta	all identical	119	M	E	I	K	P	L	Q	F	E	I	M	I	D	R	L	E	K	A	S	S	N	Q	L
Fcatus	all identical	143	M	E	I	K	P	L	Q	F	E	I	M	I	D	R	L	E	K	A	S	S	N	Q	L
Mmusculus	all identical	143	M	E	I	K	P	L	Q	F	E	I	M	I	D	R	L	E	K	A	S	S	N	Q	L
Ggallus	all identical	143	M	E	I	K	P	L	Q	F	E	I	M	I	D	R	L	E	K	A	S	S	S	Q	L
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	all conserved	135	L	E	L	T	E	L	K	F	E	Q	M	M	D	R	L	E	K	S	S	G	Q	T	V
Celegans	not conserved	149	T	H	I	D	P	R	V	L	E	K	I	F	D	T	V	E	S	H	S	S	E	T	Q
Xtropicalis	all identical	143	M	E	I	K	P	L	Q	F	E	I	M	I	D	R	L	E	K	A	S	S	N	Q	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	807	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.674	1
	0.364	0.998
(flanking)	9.602	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

2

Strand

1

Original gDNA sequence snippet

TTGCAATTTGAAATTATGATTGACAGACTTGAAAAAGCCAG

Altered gDNA sequence snippet

TTGCAATTTGAAATTATGATGGACAGACTTGAAAAAGCCAG

Original cDNA sequence snippet

TTGCAATTTGAAATTATGATTGACAGACTTGAAAAAGCCAG

Altered cDNA sequence snippet

TTGCAATTTGAAATTATGATGGACAGACTTGAAAAAGCCAG

Wildtype AA sequence

MSKLSFRARA LDAAKPLPIY RGKDMPDLND CVSINRAVPQ MPTGMEKEEE SEHHLQRAIS
AQQVFREKKE SMVIPVPEAE SNVNYYNRLY KGEFKQPKQF IHIQPFNLDN EQPDYDMDSE
DETLLNRLNR KMEIKPLQFE IMIDRLEKAS SNQLVTLQEA KLLLNEDDYL IKAVYDYWVR
KRKNCRGPSL IPQIKQEKRD GSTNNDPYVA FRRRTEKMQT RKNRKNDEAS YEKMLKLRRE
FSRAITILEM IKRREKTKRE LLHLTLEVVE KRYHLGDYGG EILNEVKISR SEKELYATPA
TLHNGNHHKV QECKTKHPHH LSLKEEASDV VRQKKKYPKK PKAEALITSQ QPTPETLPVI
NKSDIKQYDF HSSDEDEFPQ VLSPVSEPEE ENDPDGPCAF RRRAGCQYYA PRLDQANHSC
ENSELADLDK LRYRHCLTTL TVPRRCIGFA RRRIGRGGRV IMDRISTEHD PVLKQIDPEM
LNSFSSSSQT IDFSSNFSRT NASSKHCENR LSLSEILSNI RSCRLQCFQP RLLNLQDSDS
EECTSRKPGQ TVNNKRVSAA SVALLNTSKN GISVTGGITE EQFQTHQQQL VQMQRQQLAQ
LQQKQQSQHS SQQTHPKAQG SSTSDCMSKT LDSASAHFAA SAVVSAPVPS RSEVAKEQNT
GHNNINGVVQ PSGTSKTLYS TNMALSSSPG ISAVQLVRTV GHTTTNHLIP ALCTSSPQTL
PMNNSCLTNA VHLNNVSVVS PVNVHINTRT SAPSPTALKL ATVAASMDRV PKVTPSSAIS
SIARENHEPE RLGLNGIAET TVAMEVT*

Mutated AA sequence

MSKLSFRARA LDAAKPLPIY RGKDMPDLND CVSINRAVPQ MPTGMEKEEE SEHHLQRAIS
AQQVFREKKE SMVIPVPEAE SNVNYYNRLY KGEFKQPKQF IHIQPFNLDN EQPDYDMDSE
DETLLNRLNR KMEIKPLQFE IMMDRLEKAS SNQLVTLQEA KLLLNEDDYL IKAVYDYWVR
KRKNCRGPSL IPQIKQEKRD GSTNNDPYVA FRRRTEKMQT RKNRKNDEAS YEKMLKLRRE
FSRAITILEM IKRREKTKRE LLHLTLEVVE KRYHLGDYGG EILNEVKISR SEKELYATPA
TLHNGNHHKV QECKTKHPHH LSLKEEASDV VRQKKKYPKK PKAEALITSQ QPTPETLPVI
NKSDIKQYDF HSSDEDEFPQ VLSPVSEPEE ENDPDGPCAF RRRAGCQYYA PRLDQANHSC
ENSELADLDK LRYRHCLTTL TVPRRCIGFA RRRIGRGGRV IMDRISTEHD PVLKQIDPEM
LNSFSSSSQT IDFSSNFSRT NASSKHCENR LSLSEILSNI RSCRLQCFQP RLLNLQDSDS
EECTSRKPGQ TVNNKRVSAA SVALLNTSKN GISVTGGITE EQFQTHQQQL VQMQRQQLAQ
LQQKQQSQHS SQQTHPKAQG SSTSDCMSKT LDSASAHFAA SAVVSAPVPS RSEVAKEQNT
GHNNINGVVQ PSGTSKTLYS TNMALSSSPG ISAVQLVRTV GHTTTNHLIP ALCTSSPQTL
PMNNSCLTNA VHLNNVSVVS PVNVHINTRT SAPSPTALKL ATVAASMDRV PKVTPSSAIS
SIARENHEPE RLGLNGIAET TVAMEVT*

Position of stopcodon in wt / mu CDS

2424 / 2424

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

808 / 808

Position of stopcodon in wt / mu cDNA

2691 / 2691

Position of start ATG in wt / mu cDNA

268 / 268

Last intron/exon boundary

2618

Theoretical NMD boundary in CDS

2300

Length of CDS

2424

Coding sequence (CDS) position

429

cDNA position

696

gDNA position

99298

Chromosomal position

148743737

Speed

0.51 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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