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: ENST00000335295
Querying Taster for transcript #2: ENST00000647020
MT speed 0.11 s - this script 2.429841 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
ENST00000335295(MANE Select)	HBB	Benign	48\|52	3utr		No				Single base exchange		N/A
ENST00000647020	HBB	Benign	48\|52	3utr		No				Single base exchange		N/A

MutationT@ster 2025

Variant:

11:5225466G>A_1_ENST00000335295

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Prediction:

BenignPermalink

Summary:

Model: 3utr
Tree vote: 48|52 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:5225466G>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

ENST00000335295.4

Genbank transcript ID

NM_000518 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.626C>T
g.3930C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1420779550
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.769	0.002
	0.114	0
(flanking)	0.647	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

polyA signal ok

AA sequence altered

N/A

Chromosome

11

Strand

-1

Original gDNA sequence snippet

AAAAACATTTATTTTCATTGCAA

Altered gDNA sequence snippet

AAAAACATTTATTTTCATTGTAA

Original cDNA sequence snippet

AAAAACATTTATTTTCATTGCAA

Altered cDNA sequence snippet

AAAAACATTTATTTTCATTGTAA

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

51 / 51

Last intron/exon boundary

365

Theoretical NMD boundary in CDS

264

Length of CDS

444

Coding sequence (CDS) position

N/A

cDNA position

626

gDNA position

3930

Chromosomal position

5225466

Speed

0.06 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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MutationT@ster 2025

Variant:

11:5225466G>A_2_ENST00000647020

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Prediction:

BenignPermalink

Summary:

Model: 3utr
Tree vote: 48|52 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:5225466G>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

3'UTR

DNA changes

cDNA.752C>T
g.3930C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1420779550
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.769	0.002
	0.114	0
(flanking)	0.647	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

polyA signal ok

AA sequence altered

N/A

Chromosome

11

Strand

-1

Original gDNA sequence snippet

AAAAACATTTATTTTCATTGCAA

Altered gDNA sequence snippet

AAAAACATTTATTTTCATTGTAA

Original cDNA sequence snippet

AAAAACATTTATTTTCATTGCAA

Altered cDNA sequence snippet

AAAAACATTTATTTTCATTGTAA

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

752

gDNA position

3930

Chromosomal position

5225466

Speed

0.05 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