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
Querying Taster for transcript #3: ENST00000485743
Querying Taster for transcript #4: ENST00000380315
MT speed 0.17 s - this script 2.523819 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000335295(MANE Select)	HBB	Benign	42\|58	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000647020	HBB	Benign	42\|58	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000485743	HBB	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

Some transcripts had annotation problems and are not shown

MutationT@ster 2025

Variant:

11:5226706C>A_1_ENST00000335295

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 42|58 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:5226706C>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.186G>T
g.2690G>T

AA changes

AAE:	K62N	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs34446260
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		62	T	P	D	A	V	M	G	N	P	K	V	K	A	H	G	K	K	V	L	G	A	F	S	D
mutated	not conserved	62											V	N	A	H	G	K	K	V	L	G	A	F	S
Ptroglodytes	all identical	62											V	K	A	H	G	K	K	V	L	G	A	F	S
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	all conserved	61	S	A	E	E	M	K	Q	S	D	Q	V	R	G	H	G
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
59	75	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.342	0
	-1.904	0
(flanking)	0.329	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

11

Strand

-1

Original gDNA sequence snippet

ATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCT

Altered gDNA sequence snippet

ATGGGCAACCCTAAGGTGAATGCTCATGGCAAGAAAGTGCT

Original cDNA sequence snippet

ATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCT

Altered cDNA sequence snippet

ATGGGCAACCCTAAGGTGAATGCTCATGGCAAGAAAGTGCT

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
VNAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRLLGNV LVCVLAHHFG
KEFTPPVQAA YQKVVAGVAN ALAHKYH*

Position of stopcodon in wt / mu CDS

444 / 444

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

148 / 148

Position of stopcodon in wt / mu cDNA

494 / 494

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

186

cDNA position

236

gDNA position

2690

Chromosomal position

5226706

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:

11:5226706C>A_2_ENST00000647020

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 42|58 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:5226706C>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.186G>T
g.2690G>T

AA changes

AAE:	K62N	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs34446260
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		62	T	P	D	A	V	M	G	N	P	K	V	K	A	H	G	K	K	V	L	G	A	F	S	D
mutated	not conserved	62											V	N	A	H	G	K	K	V	L	G	A	F	S
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
59	75	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.342	0
	-1.904	0
(flanking)	0.329	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

11

Strand

-1

Original gDNA sequence snippet

ATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCT

Altered gDNA sequence snippet

ATGGGCAACCCTAAGGTGAATGCTCATGGCAAGAAAGTGCT

Original cDNA sequence snippet

ATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCT

Altered cDNA sequence snippet

ATGGGCAACCCTAAGGTGAATGCTCATGGCAAGAAAGTGCT

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
VNAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRLLGNV LVCVLAHHFG
KEFTPPVQAA YQKVVAGVAN ALAHKYH*

Position of stopcodon in wt / mu CDS

444 / 444

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

148 / 148

Position of stopcodon in wt / mu cDNA

620 / 620

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

186

cDNA position

362

gDNA position

2690

Chromosomal position

5226706

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

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MutationT@ster 2025

Variant:

11:5226706C>A_3_ENST00000485743

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr11:5226706C>A (GRCh38)

Gene symbol

HBB

Gene constraints

LOEUF: 1.95, LOF (oe): 1.69, misssense (oe): 0.89, synonymous (oe): 1.32 ? (gnomAD)

Ensembl transcript ID

ENST00000485743.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.186G>T
g.2690G>T

AA changes

AAE:	K62N	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs34446260
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		62	T	P	D	A	V	M	G	N	P	K	V	K	A	H	G	K	K	V	L	G	A	F	S	D
mutated	not conserved	62											V	N	A	H	G	K	K	V	L	G	A	F	S
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.342	0
	-1.904	0
(flanking)	0.329	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

11

Strand

-1

Original gDNA sequence snippet

ATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCT

Altered gDNA sequence snippet

ATGGGCAACCCTAAGGTGAATGCTCATGGCAAGAAAGTGCT

Original cDNA sequence snippet

ATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCT

Altered cDNA sequence snippet

ATGGGCAACCCTAAGGTGAATGCTCATGGCAAGAAAGTGCT

Wildtype AA sequence

MVHLTPEEKS AVTALWGKVN VDEVGGEALG RLLVVYPWTQ RFFESFGDLS TPDAVMGNPK
VKAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRVSLWD A*

Mutated AA sequence

MVHLTPEEKS AVTALWGKVN VDEVGGEALG RLLVVYPWTQ RFFESFGDLS TPDAVMGNPK
VNAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRVSLWD A*

Position of stopcodon in wt / mu CDS

336 / 336

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

112 / 112

Position of stopcodon in wt / mu cDNA

387 / 387

Position of start ATG in wt / mu cDNA

52 / 52

Last intron/exon boundary

143

Theoretical NMD boundary in CDS

41

Length of CDS

336

Coding sequence (CDS) position

186

cDNA position

237

gDNA position

2690

Chromosomal position

5226706

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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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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