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: ENST00000297435
MT speed 0.38 s - this script 2.788722 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
ENST00000297435(MANE Select)	DEFA4	Benign	20\|80	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

8:6936739A>G_1_ENST00000297435

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 20|80 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:6936739A>G (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.161T>C
g.1568T>C

AA changes

AAE:	L54P	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs753521273
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	22	22

Protein conservation

Species	Match	AA	Alignment
Human		54	S	I	S	F	A	W	D	K	S	S	A	L	Q	V	S	G	S	T	R	G	M	V	C	S
mutated	not conserved	54	S	I	S	F	A	W	D	K	S	S	A	P	Q	V	S	G	S	T
Ptroglodytes	all identical	54	S	I	S	F	A	W	D	K	S	S	A	L	Q	V	S	G	S	T
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
20	63	PROPEP		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.293	0
	-0.948	0
(flanking)	-0.322	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

12

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

8

Strand

-1

Original gDNA sequence snippet

ATGGGATAAAAGCTCTGCTCTTCAGGTTTCAGGTGAGAGAG

Altered gDNA sequence snippet

ATGGGATAAAAGCTCTGCTCCTCAGGTTTCAGGTGAGAGAG

Original cDNA sequence snippet

ATGGGATAAAAGCTCTGCTCTTCAGGTTTCAGGCTCAACAA

Altered cDNA sequence snippet

ATGGGATAAAAGCTCTGCTCCTCAGGTTTCAGGCTCAACAA

Wildtype AA sequence

MRIIALLAAI LLVALQVRAG PLQARGDEAP GQEQRGPEDQ DISISFAWDK SSALQVSGST
RGMVCSCRLV FCRRTELRVG NCLIGGVSFT YCCTRVD*

Mutated AA sequence

MRIIALLAAI LLVALQVRAG PLQARGDEAP GQEQRGPEDQ DISISFAWDK SSAPQVSGST
RGMVCSCRLV FCRRTELRVG 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

161

cDNA position

254

gDNA position

1568

Chromosomal position

6936739

Speed

0.38 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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