MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000366711
MT speed 0.07 s - this script 2.535393 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
ENST00000366711(MANE Select)	IBA57	Benign	47\|53	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:228175383A>G_1_ENST00000366711

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 47|53 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:228175383A>G (GRCh38)

Gene symbol

IBA57

Gene constraints

LOEUF: 1.80, LOF (oe): 1.28, misssense (oe): 1.39, synonymous (oe): 1.53 ? (gnomAD)

Ensembl transcript ID

ENST00000366711.4

Genbank transcript ID

NM_001010867 (exact from MANE), NM_001310327 (by similarity)

UniProt / AlphaMissense peptide

CAF17_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.941A>G
g.9580A>G

AA changes

AAE:	Q314R	?
Score:	43

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		314	S	G	Q	T	V	G	K	F	R	A	G	Q	G	N	V	G	L	A	L	L	W	S	E	K
mutated	all conserved	314	S	G	Q	T	V	G	K	F	R	A	G	R	G	N	V	G	L	A	L	L	W	S	E
Ptroglodytes	all identical	314	S	G	Q	T	V	G	K	F	R	A	G	Q	G	N	V	G	L	A	L	L	W	S	E
Mmulatta	all identical	121												Q	G	N	V	G	L	A	L	L	W	S	E
Fcatus	all identical	472						G	K	Y	R	A	G	Q	G	D	V	G	L	A	L	L	R	A	E
Mmusculus	all identical	315	T	G	Q	A	A	G	K	F	R	A	G	Q	G	H	V	G	L	A	L	L	R	S	E
Ggallus	not conserved	316	S	G	K	A	A	G	K	F	R	A	G	G	D	E	L	G	I	A	L	L	R	L	A
Trubripes	not conserved	322	L	G	K	P	A	G	K	H	R	A	G	V	G	K	L	G	L	S	L	V	R	T	A
Drerio	no homologue
Dmelanogaster	not conserved	302	A	G	A	K	L	G	R	V	F	G	F	A	H	K	H	G	I	A	L	L	R	I	E
Celegans	not conserved	230	K	K	N	K	V	G	K	I	I	S	S	D	T	T	R	C	L	G	I	L	Q	L	S
Xtropicalis	not conserved	278	A	G	K	P	A	G	K	Y	R	A	G	H	G	D	I	G	L	A	L	L	R	M	A

Protein features

Start (aa)	End (aa)	Feature	Details
40	356	CHAIN		lost
306	314	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.329	0.717
	1.218	0.751
(flanking)	0.421	0.761

?

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

GGGCAAGTTCAGGGCTGGCCAGGGCAACGTGGGGCTGGCCC

Altered gDNA sequence snippet

GGGCAAGTTCAGGGCTGGCCGGGGCAACGTGGGGCTGGCCC

Original cDNA sequence snippet

GGGCAAGTTCAGGGCTGGCCAGGGCAACGTGGGGCTGGCCC

Altered cDNA sequence snippet

GGGCAAGTTCAGGGCTGGCCGGGGCAACGTGGGGCTGGCCC

Wildtype AA sequence

MATAALLRGA TPGRGGPVWR WRLRAAPRCR LAHSSCSPGG DPTAGAAWAC FRLDGRTLLR
VRGPDAAPFL LGLLTNELPL PSPAAAGAPP AARAGYAHFL NVQGRTLYDV ILYGLQEHSE
VSGFLLECDS SVQGALQKHL ALYRIRRKVT VEPHPELRVW AVLPSSPEAC GAASLQERAG
AAAILIRDPR TARMGWRLLT QDEGPALVPG GRLGDLWDYH QHRYLQGVPE GVRDLPPGVA
LPLESNLAFM NGVSFTKGCY IGQELTARTH HMGVIRKRLF PVRFLDPLPT SGITPGATVL
TASGQTVGKF RAGQGNVGLA LLWSEKIKGP LHIRASEGAQ VALAASVPDW WPTVSK*

Mutated AA sequence

MATAALLRGA TPGRGGPVWR WRLRAAPRCR LAHSSCSPGG DPTAGAAWAC FRLDGRTLLR
VRGPDAAPFL LGLLTNELPL PSPAAAGAPP AARAGYAHFL NVQGRTLYDV ILYGLQEHSE
VSGFLLECDS SVQGALQKHL ALYRIRRKVT VEPHPELRVW AVLPSSPEAC GAASLQERAG
AAAILIRDPR TARMGWRLLT QDEGPALVPG GRLGDLWDYH QHRYLQGVPE GVRDLPPGVA
LPLESNLAFM NGVSFTKGCY IGQELTARTH HMGVIRKRLF PVRFLDPLPT SGITPGATVL
TASGQTVGKF RAGRGNVGLA LLWSEKIKGP LHIRASEGAQ VALAASVPDW WPTVSK*

Position of stopcodon in wt / mu CDS

1071 / 1071

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

357 / 357

Position of stopcodon in wt / mu cDNA

1084 / 1084

Position of start ATG in wt / mu cDNA

14 / 14

Last intron/exon boundary

692

Theoretical NMD boundary in CDS

628

Length of CDS

1071

Coding sequence (CDS) position

941

cDNA position

954

gDNA position

9580

Chromosomal position

228175383

Speed

0.07 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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