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: ENST00000216115
MT speed 0.12 s - this script 2.572275 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
ENST00000216115(MANE Select)	BIK	Benign	43\|57	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

22:43124107G>T_1_ENST00000216115

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr22:43124107G>T (GRCh38)

Gene symbol

BIK

Gene constraints

LOEUF: 1.84, LOF (oe): 1.27, misssense (oe): 1.11, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000216115.3

Genbank transcript ID

NM_001197 (exact from MANE)

UniProt / AlphaMissense peptide

BIK_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.85G>T
g.13358G>T

AA changes

AAE:	V29F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748570562
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	12	12

Protein conservation

Species	Match	AA	Alignment
Human		29	Y	E	Q	L	L	E	P	P	T	M	E	V	L	G	M	T	D	S	E	E	D	L	D	P
mutated	not conserved	29	Y	E	Q	L	L	E	P	P	T	M	E	F	L	G	M	T	D	S	E	E	D	L	D
Ptroglodytes	all identical	29	Y	E	Q	L	L	E	P	P	T	M	E	V	L	G	V	T	D	S	E	E	D	L	D
Mmulatta	all identical	29	Y	E	Q	L	L	E	P	L	T	M	E	V	L	G	V	T	D	P	E	E	D	L	D
Fcatus	all identical	126	Q	E	H	-	-	G	P	E	V	L	D	V	P	G	M	T	D	L	V	E	Y	Y	D
Mmusculus	not conserved	29	H	D	Q	V	P	Q	P	P	V	A	-	-	-	-	-	S	E	T	P	S	M	K	E
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	160	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.261	0
	-0.043	0
(flanking)	0.398	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

22

Strand

1

Original gDNA sequence snippet

TGGAACCCCCGACCATGGAGGTTCTTGGCATGACTGACTCT

Altered gDNA sequence snippet

TGGAACCCCCGACCATGGAGTTTCTTGGCATGACTGACTCT

Original cDNA sequence snippet

TGGAACCCCCGACCATGGAGGTTCTTGGCATGACTGACTCT

Altered cDNA sequence snippet

TGGAACCCCCGACCATGGAGTTTCTTGGCATGACTGACTCT

Wildtype AA sequence

MSEVRPLSRD ILMETLLYEQ LLEPPTMEVL GMTDSEEDLD PMEDFDSLEC MEGSDALALR
LACIGDEMDV SLRAPRLAQL SEVAMHSLGL AFIYDQTEDI RDVLRSFMDG FTTLKENIMR
FWRSPNPGSW VSCEQVLLAL LLLLALLLPL LSGGLHLLLK *

Mutated AA sequence

MSEVRPLSRD ILMETLLYEQ LLEPPTMEFL GMTDSEEDLD PMEDFDSLEC MEGSDALALR
LACIGDEMDV SLRAPRLAQL SEVAMHSLGL AFIYDQTEDI RDVLRSFMDG FTTLKENIMR
FWRSPNPGSW VSCEQVLLAL LLLLALLLPL LSGGLHLLLK *

Position of stopcodon in wt / mu CDS

483 / 483

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

161 / 161

Position of stopcodon in wt / mu cDNA

544 / 544

Position of start ATG in wt / mu cDNA

62 / 62

Last intron/exon boundary

451

Theoretical NMD boundary in CDS

339

Length of CDS

483

Coding sequence (CDS) position

85

cDNA position

146

gDNA position

13358

Chromosomal position

43124107

Speed

0.12 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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