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: ENST00000297435
MT speed 0.31 s - this script 2.713274 s

Transcript summary:

Permalink

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
ENST00000297435(MANE Select)	DEFA4	Benign	22\|78	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

8:6936090G>A_1_ENST00000297435

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 22|78 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:6936090G>A (GRCh38)

Gene symbol

DEFA4

Gene constraints

LOEUF: 1.95, LOF (oe): 1.75, misssense (oe): 1.63, synonymous (oe): 1.59 ? (gnomAD)

Ensembl transcript ID

ENST00000297435.3

Genbank transcript ID

NM_001925 (exact from MANE)

UniProt / AlphaMissense peptide

DEF4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.224C>T
g.2217C>T

AA changes

AAE:	T75I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs769382429
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		75	V	C	S	C	R	L	V	F	C	R	R	T	E	L	R	V	G	N	C	L	I	G	G	V
mutated	not conserved	75	V	C	S	C	R	L	V	F	C	R	R	I	E	L	R	V	G	N	C	L	I	G	G
Ptroglodytes	all identical	75	V	C	S	C	R	L	V	F	C	R	R	T	E	L	R	V	G	N	C	L	I	G	G
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
64	96	PEPTIDE		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.444	0.003
	-0.938	0
(flanking)	-1.367	0

?

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

8

Strand

-1

Original gDNA sequence snippet

ATTAGTATTCTGCCGGCGAACAGAACTTCGTGTTGGGAACT

Altered gDNA sequence snippet

ATTAGTATTCTGCCGGCGAATAGAACTTCGTGTTGGGAACT

Original cDNA sequence snippet

ATTAGTATTCTGCCGGCGAACAGAACTTCGTGTTGGGAACT

Altered cDNA sequence snippet

ATTAGTATTCTGCCGGCGAATAGAACTTCGTGTTGGGAACT

Wildtype AA sequence

MRIIALLAAI LLVALQVRAG PLQARGDEAP GQEQRGPEDQ DISISFAWDK SSALQVSGST
RGMVCSCRLV FCRRTELRVG NCLIGGVSFT YCCTRVD*

Mutated AA sequence

MRIIALLAAI LLVALQVRAG PLQARGDEAP GQEQRGPEDQ DISISFAWDK SSALQVSGST
RGMVCSCRLV FCRRIELRVG NCLIGGVSFT YCCTRVD*

Position of stopcodon in wt / mu CDS

294 / 294

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

98 / 98

Position of stopcodon in wt / mu cDNA

387 / 387

Position of start ATG in wt / mu cDNA

94 / 94

Last intron/exon boundary

265

Theoretical NMD boundary in CDS

121

Length of CDS

294

Coding sequence (CDS) position

224

cDNA position

317

gDNA position

2217

Chromosomal position

6936090

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