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: ENST00000373968
Querying Taster for transcript #2: ENST00000674931
Querying Taster for transcript #3: ENST00000675947
MT speed 0.26 s - this script 2.721024 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
ENST00000674931(MANE Select)	MBL2	Benign	77\|23	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000373968	MBL2	Benign	86\|14	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000675947	MBL2	Benign	86\|14	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

10:52771475C>T_2_ENST00000674931

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 77|23 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr10:52771475C>T (GRCh38)

Gene symbol

MBL2

Gene constraints

LOEUF: 1.50, LOF (oe): 0.73, misssense (oe): 1.08, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000674931.1

Genbank transcript ID

NM_001378373 (exact from MANE)

UniProt / AlphaMissense peptide

MBL2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.161G>A
g.1310G>A

AA changes

AAE:	G54D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1800450
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	16347	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		54	I	N	G	F	P	G	K	D	G	R	D	G	T	K	G	E	K	G	E	P	G	Q	G	L
mutated	not conserved	54	I	N	G	F	P	G	K	D	G	R	D	D	T	K	G	E	K	G
Ptroglodytes	all identical	54	I	N	G	F	P	G	K	D	G	R	D	G	T	K	G	E	K	G
Mmulatta	all identical	61	I	N	G	F	P	G	K	D	G	R	D	G	T	K	G	E	K	G
Fcatus	no homologue
Mmusculus	all identical	54	L	N	G	F	P	G	K	D	G	R	D	G	A	K	G	E	K	G
Ggallus	all identical	72	V	N	G	L	P	G	R	D	G	R	D	G	P	K	G	E	K	G	D	P	G
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	69	S	T	G	L	P	G	R	D	G	R	D	G	K	E	G	P	K	G	E	K	GDKGL	Q

Protein features

Start (aa)	End (aa)	Feature	Details
21	248	CHAIN		lost
42	99	DOMAIN	Collagen-like	lost
43	113	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.691	0
	2.556	0.294
(flanking)	2.572	0.296

?

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

10

Strand

-1

Original gDNA sequence snippet

AGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGG

Altered gDNA sequence snippet

AGGCAAAGATGGGCGTGATGACACCAAGGGAGAAAAGGGGG

Original cDNA sequence snippet

AGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGG

Altered cDNA sequence snippet

AGGCAAAGATGGGCGTGATGACACCAAGGGAGAAAAGGGGG

Wildtype AA sequence

MSLFPSLPLL LLSMVAASYS ETVTCEDAQK TCPAVIACSS PGINGFPGKD GRDGTKGEKG
EPGQGLRGLQ GPPGKLGPPG NPGPSGSPGP KGQKGDPGKS PDGDSSLAAS ERKALQTEMA
RIKKWLTFSL GKQVGNKFFL TNGEIMTFEK VKALCVKFQA SVATPRNAAE NGAIQNLIKE
EAFLGITDEK TEGQFVDLTG NRLTYTNWNE GEPNNAGSDE DCVLLLKNGQ WNDVPCSTSH
LAVCEFPI*

Mutated AA sequence

MSLFPSLPLL LLSMVAASYS ETVTCEDAQK TCPAVIACSS PGINGFPGKD GRDDTKGEKG
EPGQGLRGLQ GPPGKLGPPG NPGPSGSPGP KGQKGDPGKS PDGDSSLAAS ERKALQTEMA
RIKKWLTFSL GKQVGNKFFL TNGEIMTFEK VKALCVKFQA SVATPRNAAE NGAIQNLIKE
EAFLGITDEK TEGQFVDLTG NRLTYTNWNE GEPNNAGSDE DCVLLLKNGQ WNDVPCSTSH
LAVCEFPI*

Position of stopcodon in wt / mu CDS

747 / 747

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

249 / 249

Position of stopcodon in wt / mu cDNA

804 / 804

Position of start ATG in wt / mu cDNA

58 / 58

Last intron/exon boundary

430

Theoretical NMD boundary in CDS

322

Length of CDS

747

Coding sequence (CDS) position

161

cDNA position

218

gDNA position

1310

Chromosomal position

52771475

Speed

0.08 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

MutationT@ster 2025

Variant:

10:52771475C>T_1_ENST00000373968

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 86|14 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr10:52771475C>T (GRCh38)

Gene symbol

MBL2

Gene constraints

LOEUF: 1.50, LOF (oe): 0.73, misssense (oe): 1.08, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000373968.3

Genbank transcript ID

NM_000242 (by similarity)

UniProt / AlphaMissense peptide

MBL2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.161G>A
g.1310G>A

AA changes

AAE:	G54D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1800450
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	16347	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		54	I	N	G	F	P	G	K	D	G	R	D	G	T	K	G	E	K	G	E	P	G	Q	G	L
mutated	not conserved	54	I	N	G	F	P	G	K	D	G	R	D	D	T	K	G	E	K	G
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
21	248	CHAIN		lost
42	99	DOMAIN	Collagen-like	lost
43	113	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.691	0
	2.556	0.294
(flanking)	2.572	0.296

?

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

10

Strand

-1

Original gDNA sequence snippet

AGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGG

Altered gDNA sequence snippet

AGGCAAAGATGGGCGTGATGACACCAAGGGAGAAAAGGGGG

Original cDNA sequence snippet

AGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGG

Altered cDNA sequence snippet

AGGCAAAGATGGGCGTGATGACACCAAGGGAGAAAAGGGGG

Wildtype AA sequence

MSLFPSLPLL LLSMVAASYS ETVTCEDAQK TCPAVIACSS PGINGFPGKD GRDGTKGEKG
EPGQGLRGLQ GPPGKLGPPG NPGPSGSPGP KGQKGDPGKS PDGDSSLAAS ERKALQTEMA
RIKKWLTFSL GKQVGNKFFL TNGEIMTFEK VKALCVKFQA SVATPRNAAE NGAIQNLIKE
EAFLGITDEK TEGQFVDLTG NRLTYTNWNE GEPNNAGSDE DCVLLLKNGQ WNDVPCSTSH
LAVCEFPI*

Mutated AA sequence

MSLFPSLPLL LLSMVAASYS ETVTCEDAQK TCPAVIACSS PGINGFPGKD GRDDTKGEKG
EPGQGLRGLQ GPPGKLGPPG NPGPSGSPGP KGQKGDPGKS PDGDSSLAAS ERKALQTEMA
RIKKWLTFSL GKQVGNKFFL TNGEIMTFEK VKALCVKFQA SVATPRNAAE NGAIQNLIKE
EAFLGITDEK TEGQFVDLTG NRLTYTNWNE GEPNNAGSDE DCVLLLKNGQ WNDVPCSTSH
LAVCEFPI*

Position of stopcodon in wt / mu CDS

747 / 747

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

249 / 249

Position of stopcodon in wt / mu cDNA

812 / 812

Position of start ATG in wt / mu cDNA

66 / 66

Last intron/exon boundary

438

Theoretical NMD boundary in CDS

322

Length of CDS

747

Coding sequence (CDS) position

161

cDNA position

226

gDNA position

1310

Chromosomal position

52771475

Speed

0.10 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

MutationT@ster 2025

Variant:

10:52771475C>T_3_ENST00000675947

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 86|14 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr10:52771475C>T (GRCh38)

Gene symbol

MBL2

Gene constraints

LOEUF: 1.50, LOF (oe): 0.73, misssense (oe): 1.08, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000675947.1

Genbank transcript ID

NM_001378374 (by similarity)

UniProt / AlphaMissense peptide

MBL2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.161G>A
g.1310G>A

AA changes

AAE:	G54D	?
Score:	94

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1800450
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	16347	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		54	I	N	G	F	P	G	K	D	G	R	D	G	T	K	G	E	K	G	E	P	G	Q	G	L
mutated	not conserved	54	I	N	G	F	P	G	K	D	G	R	D	D	T	K	G	E	K	G
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
21	248	CHAIN		lost
42	99	DOMAIN	Collagen-like	lost
43	113	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.691	0
	2.556	0.294
(flanking)	2.572	0.296

?

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

10

Strand

-1

Original gDNA sequence snippet

AGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGG

Altered gDNA sequence snippet

AGGCAAAGATGGGCGTGATGACACCAAGGGAGAAAAGGGGG

Original cDNA sequence snippet

AGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGG

Altered cDNA sequence snippet

AGGCAAAGATGGGCGTGATGACACCAAGGGAGAAAAGGGGG

Wildtype AA sequence

MSLFPSLPLL LLSMVAASYS ETVTCEDAQK TCPAVIACSS PGINGFPGKD GRDGTKGEKG
EPGQGLRGLQ GPPGKLGPPG NPGPSGSPGP KGQKGDPGKS PDGDSSLAAS ERKALQTEMA
RIKKWLTFSL GKQVGNKFFL TNGEIMTFEK VKALCVKFQA SVATPRNAAE NGAIQNLIKE
EAFLGITDEK TEGQFVDLTG NRLTYTNWNE GEPNNAGSDE DCVLLLKNGQ WNDVPCSTSH
LAVCEFPI*

Mutated AA sequence

MSLFPSLPLL LLSMVAASYS ETVTCEDAQK TCPAVIACSS PGINGFPGKD GRDDTKGEKG
EPGQGLRGLQ GPPGKLGPPG NPGPSGSPGP KGQKGDPGKS PDGDSSLAAS ERKALQTEMA
RIKKWLTFSL GKQVGNKFFL TNGEIMTFEK VKALCVKFQA SVATPRNAAE NGAIQNLIKE
EAFLGITDEK TEGQFVDLTG NRLTYTNWNE GEPNNAGSDE DCVLLLKNGQ WNDVPCSTSH
LAVCEFPI*

Position of stopcodon in wt / mu CDS

747 / 747

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

249 / 249

Position of stopcodon in wt / mu cDNA

819 / 819

Position of start ATG in wt / mu cDNA

73 / 73

Last intron/exon boundary

445

Theoretical NMD boundary in CDS

322

Length of CDS

747

Coding sequence (CDS) position

161

cDNA position

233

gDNA position

1310

Chromosomal position

52771475

Speed

0.08 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