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: ENST00000418931
Querying Taster for transcript #2: ENST00000428835
Querying Taster for transcript #3: ENST00000416804
MT speed 0.28 s - this script 2.644669 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
ENST00000418931(MANE Select)	HLA-DPB1	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000428835	HLA-DPB1	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000416804	HLA-DPB1	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

6:33087084A>G_1_ENST00000418931

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:33087084A>G (GRCh38)

Gene symbol

HLA-DPB1

Gene constraints

LOEUF: 1.47, LOF (oe): 1.08, misssense (oe): 0.82, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000418931.7

Genbank transcript ID

NM_002121 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1379A>G
g.11149A>G

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	rs9277535
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	5260	28115	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.062	0
	-0.133	0
(flanking)	-0.591	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

6

Strand

1

Original gDNA sequence snippet

AAATCTGCCTGATAGGACCCATATTCCCACAGCACTAATTC

Altered gDNA sequence snippet

AAATCTGCCTGATAGGACCCGTATTCCCACAGCACTAATTC

Original cDNA sequence snippet

AAATCTGCCTGATAGGACCCATATTCCCACAGCACTAATTC

Altered cDNA sequence snippet

AAATCTGCCTGATAGGACCCGTATTCCCACAGCACTAATTC

Wildtype AA sequence

MMVLQVSAAP RTVALTALLM VLLTSVVQGR ATPENYLFQG RQECYAFNGT QRFLERYIYN
REEFARFDSD VGEFRAVTEL GRPAAEYWNS QKDILEEKRA VPDRMCRHNY ELGGPMTLQR
RVQPRVNVSP SKKGPLQHHN LLVCHVTDFY PGSIQVRWFL NGQEETAGVV STNLIRNGDW
TFQILVMLEM TPQQGDVYTC QVEHTSLDSP VTVEWKAQSD SARSKTLTGA GGFVLGLIIC
GVGIFMHRRS KKVQRGSA*

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

53 / 53

Last intron/exon boundary

833

Theoretical NMD boundary in CDS

730

Length of CDS

777

Coding sequence (CDS) position

N/A

cDNA position

1379

gDNA position

11149

Chromosomal position

33087084

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

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MutationT@ster 2025

Variant:

6:33087084A>G_2_ENST00000428835

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:33087084A>G (GRCh38)

Gene symbol

HLA-DPB1

Gene constraints

LOEUF: 1.40, LOF (oe): 0.94, misssense (oe): 0.81, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000428835.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1384A>G
g.11149A>G

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	rs9277535
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	5260	28115	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.062	0
	-0.133	0
(flanking)	-0.591	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

6

Strand

1

Original gDNA sequence snippet

AAATCTGCCTGATAGGACCCATATTCCCACAGCACTAATTC

Altered gDNA sequence snippet

AAATCTGCCTGATAGGACCCGTATTCCCACAGCACTAATTC

Original cDNA sequence snippet

AAATCTGCCTGATAGGACCCATATTCCCACAGCACTAATTC

Altered cDNA sequence snippet

AAATCTGCCTGATAGGACCCGTATTCCCACAGCACTAATTC

Wildtype AA sequence

MCRHNYELGG PMTLQRRVQP RVNVSPSKKG PLQHHNLLVC HVTDFYPGSI QVRWFLNGQE
ETAGVVSTNL IRNGDWTFQI LVMLEMTPQQ GDVYTCQVEH TSLDSPVTVE WKAQSDSARS
KTLTGAGGFV LGLIICGVGI FMHRRSKKVQ RGSA*

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

370 / 370

Last intron/exon boundary

838

Theoretical NMD boundary in CDS

418

Length of CDS

465

Coding sequence (CDS) position

N/A

cDNA position

1384

gDNA position

11149

Chromosomal position

33087084

Speed

0.09 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:

6:33087084A>G_3_ENST00000416804

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 0|100 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:33087084A>G (GRCh38)

Gene symbol

HLA-DPB1

Gene constraints

LOEUF: 1.37, LOF (oe): 0.98, misssense (oe): 0.81, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000416804.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1484A>G
g.11149A>G

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	rs9277535
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	5260	28115	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.062	0
	-0.133	0
(flanking)	-0.591	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

6

Strand

1

Original gDNA sequence snippet

AAATCTGCCTGATAGGACCCATATTCCCACAGCACTAATTC

Altered gDNA sequence snippet

AAATCTGCCTGATAGGACCCGTATTCCCACAGCACTAATTC

Original cDNA sequence snippet

AAATCTGCCTGATAGGACCCATATTCCCACAGCACTAATTC

Altered cDNA sequence snippet

AAATCTGCCTGATAGGACCCGTATTCCCACAGCACTAATTC

Wildtype AA sequence

MCRHNYELGG PMTLQRRVQP RVNVSPSKKG PLQHHNLLVC HVTDFYPGSI QVRWFLNGQE
ETAGVVSTNL IRNGDWTFQI LVMLEMTPQQ GDVYTCQVEH TSLDSPVTVE WKAQSDSARS
KTLTGAGGFV LGLIICGVGI FMHRRSKKGE KACRFNEDLH KQGS*

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

453 / 453

Last intron/exon boundary

938

Theoretical NMD boundary in CDS

435

Length of CDS

495

Coding sequence (CDS) position

N/A

cDNA position

1484

gDNA position

11149

Chromosomal position

33087084

Speed

0.09 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