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 0.69 s - this script 3.118041 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	Deleterious	6\|4	complex_aae		No				Single base exchange		N/A	Amino acid sequence changed Protein features (might be) affected
ENST00000647020	HBB	Deleterious	6\|4	complex_aae		No				Single base exchange		N/A	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

11:5225609T>A_1_ENST00000335295

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: complex_aae
Tree vote: 6|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:5225609T>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

HBB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.433A>T
g.3787A>T

AA changes

AAE:	H144-	K145-	Y146-	?
Score:	-	-	-

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		144	K	V	V	A	G	V	A	N	A	L	A	H	K	Y	H	*
mutated	all conserved	144	K	V	V	A	G	V	A	N	A	L	A	H
Ptroglodytes	all identical	144	K	V	V	A	G	V	A	N	A	L	A	H	K	Y	H
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	partly conserved	148	K	V	T	N	E	I	C	T	H	L	T	N	I	Y
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no alignment	n/a
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
2	147	CHAIN		lost
3	147	DOMAIN	Globin	lost
144	144	BINDING	(2R)-2,3-bisphosphoglycerate	lost
144	146	HELIX		lost
145	145	MOD_RES	N6-acetyllysine	lost
145	145	CARBOHYD	N-linked (Glc) (glycation) lysine	lost
145	146	SITE	(Microbial infection) Cleavage; by N.americanus apr- 2	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.855	0.999
	1.233	1
(flanking)	2.117	1

?

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

11

Strand

-1

Original gDNA sequence snippet

TGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTT

Altered gDNA sequence snippet

TGGCTAATGCCCTGGCCCACTAGTATCACTAAGCTCGCTTT

Original cDNA sequence snippet

TGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTT

Altered cDNA sequence snippet

TGGCTAATGCCCTGGCCCACTAGTATCACTAAGCTCGCTTT

Wildtype AA sequence

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

Mutated AA sequence

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

Position of stopcodon in wt / mu CDS

444 / 435

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

148 / 145

Position of stopcodon in wt / mu cDNA

494 / 485

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

433

cDNA position

483

gDNA position

3787

Chromosomal position

5225609

Speed

0.34 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:

11:5225609T>A_2_ENST00000647020

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: complex_aae
Tree vote: 6|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:5225609T>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

HBB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.433A>T
g.3787A>T

AA changes

AAE:	H144-	K145-	Y146-	?
Score:	-	-	-

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		144	K	V	V	A	G	V	A	N	A	L	A	H	K	Y	H	*
mutated	all conserved	144	K	V	V	A	G	V	A	N	A	L	A	H
Ptroglodytes	no homologue
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
2	147	CHAIN		lost
3	147	DOMAIN	Globin	lost
144	144	BINDING	(2R)-2,3-bisphosphoglycerate	lost
144	146	HELIX		lost
145	145	MOD_RES	N6-acetyllysine	lost
145	145	CARBOHYD	N-linked (Glc) (glycation) lysine	lost
145	146	SITE	(Microbial infection) Cleavage; by N.americanus apr- 2	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.855	0.999
	1.233	1
(flanking)	2.117	1

?

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

11

Strand

-1

Original gDNA sequence snippet

TGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTT

Altered gDNA sequence snippet

TGGCTAATGCCCTGGCCCACTAGTATCACTAAGCTCGCTTT

Original cDNA sequence snippet

TGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTT

Altered cDNA sequence snippet

TGGCTAATGCCCTGGCCCACTAGTATCACTAAGCTCGCTTT

Wildtype AA sequence

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

Mutated AA sequence

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

Position of stopcodon in wt / mu CDS

444 / 435

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

148 / 145

Position of stopcodon in wt / mu cDNA

620 / 611

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

433

cDNA position

609

gDNA position

3787

Chromosomal position

5225609

Speed

0.35 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