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: ENST00000647020
Querying Taster for transcript #2: ENST00000380315
MT speed 0.01 s - this script 2.292338 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
ENST00000647020	HBB	Deleterious	32\|66	5utr		No	Yes			Single base exchange		N/A	Known disease mutation: ClinVar ID 15460 (pathogenic)

Some transcripts had annotation problems and are not shown

MutationT@ster 2025

Variant:

11:5227159G>A_1_ENST00000647020

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Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 15460 (pathogenic)

Model: 5utr
Tree vote: 32|66 (del | benign) ?
Automatic classification due to ClinVar,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:5227159G>A (GRCh38)

Gene symbol

HBB

Gene constraints

LOEUF: 1.96, LOF (oe): 1.80, misssense (oe): 0.84, synonymous (oe): 1.30 ? (gnomAD)

Ensembl transcript ID

ENST00000647020.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.39C>T
g.2237C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Hemoglobinopathy
beta Thalassemia
Beta-plus-thalassemia
Inborn genetic diseases

pathogenic

ClinVar

Variant DBs

dbSNP ID	rs33944208
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	58	58

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.42	1
	1.749	1
(flanking)	0.2	0.999

?

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

N/A

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTAC

Altered gDNA sequence snippet

CCTCACCCTGTGGAGCCACATCCTAGGGTTGGCCAATCTAC

Original cDNA sequence snippet

CCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTAC

Altered cDNA sequence snippet

CCTCACCCTGTGGAGCCACATCCTAGGGTTGGCCAATCTAC

Wildtype AA sequence

MVHLTPEEKS AVTALWGKVN VDEVGGEALG RLLVVYPWTQ RFFESFGDLS TPDAVMGNPK
VKAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRLLGNV LVCVLAHHFG
KEFTPPVQAA YQKVVAGVAN ALAHKYH*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

177 / 177

Last intron/exon boundary

491

Theoretical NMD boundary in CDS

264

Length of CDS

444

Coding sequence (CDS) position

N/A

cDNA position

39

gDNA position

2237

Chromosomal position

5227159

Speed

0.01 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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Problem:

1

MutationT@ster 2025

annotation problem

The chosen transcript ENST00000380315 on chromosome 11 has no correct in-frame stop codon (TGA, TAA or TAG) annotated
This is likely to cause a false prediction. You should choose another transcript.

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