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: ENST00000395330
Querying Taster for transcript #2: ENST00000354258
Querying Taster for transcript #3: ENST00000698422
Querying Taster for transcript #4: ENST00000698423
Querying Taster for transcript #5: ENST00000643049
Querying Taster for transcript #6: ENST00000698424
MT speed 0.43 s - this script 2.808253 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000698422	TAP1	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000698423	TAP1	Benign	0\|200	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000643049	TAP1	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000698424	TAP1	Benign	0\|100	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000354258(MANE Select)	TAP1	Benign	1\|99	3utr	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000395330	PSMB9	Benign	2\|198	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

6:32845503T>G_3_ENST00000698422

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

Chr6:32845503T>G (GRCh38)

Gene symbol

TAP1

Gene constraints

no data

Ensembl transcript ID

ENST00000698422.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.2202A>C
g.8314A>C

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	rs541148983
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	45	6042	6087

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.181	0.004
	0.464	0.007
(flanking)	-0.507	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

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered gDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Original cDNA sequence snippet

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered cDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Wildtype AA sequence

MASSRCPAPR GCRCLPGASL AWLGTVLLLL ADWVLLRTAL PRIFSLLVPT ALPLLRVWAV
GLSRWAVLWL GACGVLRATV GSKSENAGAQ GWLAALKPLA AALGLALPGL ALFRELISWG
APGSADSTRL LHWGSHPTAF VVSYAAALPA AALWHKLGSL WVPGGQGGSG NPVRRLLGCL
GSETRRLSLF LVLVVLSSLG EMAIPFFTGR LTDWILQDGS ADTFTRNLTL MSILTIASAV
LEFVGDGIYN NTMGHVHSHL QGEVFGAVLR QETEFFQQNQ TGNIMSRVTE DTSTLSDSLS
ENLSLFLWYL VRGLCLLGIM LWGSVSLTMV TLITLPLLFL LPKKVGKWYQ LLEVQVRESL
AKSSQVAIEA LSAMPTVRSF ANEEGEAQKF REKLQEIKTL NQKEAVAYAV NSWTTSISGM
LLKVGILYIG GQLVTSGAVS SGNLVTFVLY QMQFTQAVEG LTFTLRPGEV TALVGPNGSG
KSTVAALLQN LYQPTGGQLL LDGKPLPQYE HRYLHRQVAA VGQEPQVFGR SLQENIAYGL
TQKPTMEEIT AAAVKSGAHS FISGLPQGYD TEVDEAGSQL SGGQRQAVAL ARALIRKPCV
LILDDATSAL DANSQLQVEQ LLYESPERYS RSVLLITQHL SLVEQADHIL FLEGGAIREG
GTHQQLMEKK GCYWAMVQAP ADAPE*

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

69 / 69

Last intron/exon boundary

1919

Theoretical NMD boundary in CDS

1800

Length of CDS

2058

Coding sequence (CDS) position

N/A

cDNA position

2202

gDNA position

8314

Chromosomal position

32845503

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

MutationT@ster 2025

Variant:

6:32845503T>G_4_ENST00000698423

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:32845503T>G (GRCh38)

Gene symbol

TAP1

Gene constraints

no data

Ensembl transcript ID

ENST00000698423.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2418A>C
g.8314A>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs541148983
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	45	6042	6087

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.181	0.004
	0.464	0.007
(flanking)	-0.507	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

No

Chromosome

6

Strand

-1

Original gDNA sequence snippet

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered gDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Original cDNA sequence snippet

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered cDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Wildtype AA sequence

MASSRCPAPR GCRCLPGASL AWLGTVLLLL ADWVLLRTAL PRIFSLLVPT ALPLLRVWAV
GLSRWAVLWL GACGVLRATV GSKSENAGAQ GWLAALKPLA AALGLALPGL ALFRELISWG
APGSADSTRL LHWGSHPTAF VVSYAAALPA AALWHKLGSL WVPGGQGGSG NPVRRLLGCL
GSETRRLSLF LVLVVLSSLG EMAIPFFTGR LTDWILQDGS ADTFTRNLTL MSILTIASAV
LEFVGDGIYN NTMGHVHSHL QGEVFGAVLR QETEFFQQNQ TGNIMSRVTE DTSTLSDSLS
ENLSLFLWYL VRGLCLLGIM LWGSVSLTMV TLITLPLLFL LPKKVGKWYQ LLEVQVRESL
AKSSQVAIEA LSAMPTVRSF ANEEGEAQKF REKLQEIKTL NQKEAVAYAV NSWTTSISGM
LLKVGILYIG GQLVTSGAVS SGNLVTFVLY QMQFTQAVEV LLSIYPRVQK AVGSSEKIFE
YLDRTPRCPP SGLLTPLHLE GLVQFQDVSF AYPNRPDVLV LQGLTFTLRP GEVTALVGPN
GSGKSTVAAL LQNLYQPTGG QLLLDGKPLP QYEHRYLHRQ VAAVGQEPQV FGRSLQENIA
YGLTQKPTME EITAAAVKSG AHSFISGLPQ GYDTEVDEAG SQLSGGQRQA VALARALIRK
PCVLILDDAT SALDANSQLQ SLMKQRVCGE VLRMGNVGVL GVVSRASSDP VRWSSSCTKA
LSGTPAQCFS SPSTSAWWSR LTTSSFWKEA LSGRGEPTSS SWRKRGATGP WCRLLQMLQN
ESLLRPAHSI SLPFLLSVVE NHSCRVGSCL QDELLEICLE CVTSFPSSS*

Mutated AA sequence

MASSRCPAPR GCRCLPGASL AWLGTVLLLL ADWVLLRTAL PRIFSLLVPT ALPLLRVWAV
GLSRWAVLWL GACGVLRATV GSKSENAGAQ GWLAALKPLA AALGLALPGL ALFRELISWG
APGSADSTRL LHWGSHPTAF VVSYAAALPA AALWHKLGSL WVPGGQGGSG NPVRRLLGCL
GSETRRLSLF LVLVVLSSLG EMAIPFFTGR LTDWILQDGS ADTFTRNLTL MSILTIASAV
LEFVGDGIYN NTMGHVHSHL QGEVFGAVLR QETEFFQQNQ TGNIMSRVTE DTSTLSDSLS
ENLSLFLWYL VRGLCLLGIM LWGSVSLTMV TLITLPLLFL LPKKVGKWYQ LLEVQVRESL
AKSSQVAIEA LSAMPTVRSF ANEEGEAQKF REKLQEIKTL NQKEAVAYAV NSWTTSISGM
LLKVGILYIG GQLVTSGAVS SGNLVTFVLY QMQFTQAVEV LLSIYPRVQK AVGSSEKIFE
YLDRTPRCPP SGLLTPLHLE GLVQFQDVSF AYPNRPDVLV LQGLTFTLRP GEVTALVGPN
GSGKSTVAAL LQNLYQPTGG QLLLDGKPLP QYEHRYLHRQ VAAVGQEPQV FGRSLQENIA
YGLTQKPTME EITAAAVKSG AHSFISGLPQ GYDTEVDEAG SQLSGGQRQA VALARALIRK
PCVLILDDAT SALDANSQLQ SLMKQRVCGE VLRMGNVGVL GVVSRASSDP VRWSSSCTKA
LSGTPAQCFS SPSTSAWWSR LTTSSFWKEA LSGRGEPTSS SWRKRGATGP WCRLLQMLQN
ESLLRPAHSI SLPFLLSVVE NHSCRVGSCL QDELLEICLE CVTSFPSSS*

Position of stopcodon in wt / mu CDS

2490 / 2490

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

830 / 830

Position of stopcodon in wt / mu cDNA

2571 / 2571

Position of start ATG in wt / mu cDNA

82 / 82

Last intron/exon boundary

2216

Theoretical NMD boundary in CDS

2084

Length of CDS

2490

Coding sequence (CDS) position

2418

cDNA position

2499

gDNA position

8314

Chromosomal position

32845503

Speed

0.02 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:

6:32845503T>G_5_ENST00000643049

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

Chr6:32845503T>G (GRCh38)

Gene symbol

TAP1

Gene constraints

LOEUF: 1.04, LOF (oe): 0.74, misssense (oe): 0.75, synonymous (oe): 0.80 ? (gnomAD)

Ensembl transcript ID

ENST00000643049.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1048A>C
g.8314A>C

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	rs541148983
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	45	6042	6087

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.181	0.004
	0.464	0.007
(flanking)	-0.507	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

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered gDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Original cDNA sequence snippet

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered cDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Wildtype AA sequence

MASSRCPAPR GCRCLPGASL AWLGTVLLLL ADWVLLRTAL PRIFSLLVTA LVGPNGSGKS
TVAALLQNLY QPTGGQLLLD GKPLPQYEHR YLHRQVAAVG QEPQVFGRSL QENIAYGLTQ
KPTMEEITAA AVKSGAHSFI SGLPQGYDTE VDEAGSQLSG GQRQAVALAR ALIRKPCVLI
LDDATSALDA NSQLQVEQLL YESPERYSRS VLLITQHLSL VEQADHILFL EGGAIREGGT
HQQLMEKKGC YWAMVQAPAD APE*

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

181 / 181

Last intron/exon boundary

765

Theoretical NMD boundary in CDS

534

Length of CDS

792

Coding sequence (CDS) position

N/A

cDNA position

1048

gDNA position

8314

Chromosomal position

32845503

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

MutationT@ster 2025

Variant:

6:32845503T>G_6_ENST00000698424

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

Chr6:32845503T>G (GRCh38)

Gene symbol

TAP1

Gene constraints

no data

Ensembl transcript ID

ENST00000698424.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.2257A>C
g.8314A>C

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	rs541148983
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	45	6042	6087

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.181	0.004
	0.464	0.007
(flanking)	-0.507	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

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered gDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Original cDNA sequence snippet

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered cDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Wildtype AA sequence

MASSRCPAPR GCRCLPGASL AWLGTVLLLL ADWVLLRTAL PRIFSLLVPT ALPLLRVWAV
GLSRWAVLWL GACGVLRATV GSKSENAGAQ GWLAALKPLA AALGLALPGL ALFRELISWG
APGSADSTRL LHWGSHPTAF VVSYAAALPA AALWHKLGSL WVPGGQGGSG NPVRRLLGCL
GSETRRLSLF LVLVVLSSLG EMAIPFFTGR LTDWILQDGS ADTFTRNLTL MSILTIASAV
LEFVGDGIYN NTMGHVHSHL QGEVFGAVLR QETEFFQQNQ TGNIMSRVTE DTSTLSDSLS
ENLSLFLWYL VRGLCLLGIM LWGSVSLTMV TLITLPLLFL LPKKVGKWYQ LLEVQVRESL
AKSSQVAIEA LSAMPTVRSF ANEEGEAQKF REKLQEIKTL NQKEAVAYAV NSWTTSVLLS
IYPRVQKAVG SSEKIFEYLD RTPRCPPSGL LTPLHLEGLV QFQDVSFAYP NRPDVLVLQG
LTFTLRPGEV TALVGPNGSG KSTVAALLQN LYQPTGGQLL LDGKPLPQYE HRYLHRQVAA
VGQEPQVFGR SLQENIAYGL TQKPTMEEIT AAAVKSGAHS FISGLPQGYD TEVDEAGSQL
SGGQRQAVAL ARALIRKPCV LILDDATSAL DANSQLQVEQ LLYESPERYS RSVLLITQHL
SLVEQADHIL FLEGGAIREG GTHQQLMEKK GCYWAMVQAP ADAPE*

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

64 / 64

Last intron/exon boundary

1974

Theoretical NMD boundary in CDS

1860

Length of CDS

2118

Coding sequence (CDS) position

N/A

cDNA position

2257

gDNA position

8314

Chromosomal position

32845503

Speed

0.11 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:

6:32845503T>G_2_ENST00000354258

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: 3utr
Tree vote: 1|99 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:32845503T>G (GRCh38)

Gene symbol

TAP1

Gene constraints

LOEUF: 0.88, LOF (oe): 0.70, misssense (oe): 0.76, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000354258.5

Genbank transcript ID

NM_000593 (exact from MANE), NM_001292022 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.2391A>C
g.8314A>C

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	rs541148983
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	45	6042	6087

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.181	0.004
	0.464	0.007
(flanking)	-0.507	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

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered gDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Original cDNA sequence snippet

GAGAACCACAGCTGCAGAGTAGGCAGCTGCCTCCAGGATGA

Altered cDNA sequence snippet

GAGAACCACAGCTGCAGAGTCGGCAGCTGCCTCCAGGATGA

Wildtype AA sequence

MASSRCPAPR GCRCLPGASL AWLGTVLLLL ADWVLLRTAL PRIFSLLVPT ALPLLRVWAV
GLSRWAVLWL GACGVLRATV GSKSENAGAQ GWLAALKPLA AALGLALPGL ALFRELISWG
APGSADSTRL LHWGSHPTAF VVSYAAALPA AALWHKLGSL WVPGGQGGSG NPVRRLLGCL
GSETRRLSLF LVLVVLSSLG EMAIPFFTGR LTDWILQDGS ADTFTRNLTL MSILTIASAV
LEFVGDGIYN NTMGHVHSHL QGEVFGAVLR QETEFFQQNQ TGNIMSRVTE DTSTLSDSLS
ENLSLFLWYL VRGLCLLGIM LWGSVSLTMV TLITLPLLFL LPKKVGKWYQ LLEVQVRESL
AKSSQVAIEA LSAMPTVRSF ANEEGEAQKF REKLQEIKTL NQKEAVAYAV NSWTTSISGM
LLKVGILYIG GQLVTSGAVS SGNLVTFVLY QMQFTQAVEV LLSIYPRVQK AVGSSEKIFE
YLDRTPRCPP SGLLTPLHLE GLVQFQDVSF AYPNRPDVLV LQGLTFTLRP GEVTALVGPN
GSGKSTVAAL LQNLYQPTGG QLLLDGKPLP QYEHRYLHRQ VAAVGQEPQV FGRSLQENIA
YGLTQKPTME EITAAAVKSG AHSFISGLPQ GYDTEVDEAG SQLSGGQRQA VALARALIRK
PCVLILDDAT SALDANSQLQ VEQLLYESPE RYSRSVLLIT QHLSLVEQAD HILFLEGGAI
REGGTHQQLM EKKGCYWAMV QAPADAPE*

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

69 / 69

Last intron/exon boundary

2108

Theoretical NMD boundary in CDS

1989

Length of CDS

2247

Coding sequence (CDS) position

N/A

cDNA position

2391

gDNA position

8314

Chromosomal position

32845503

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:

6:32845503T>G_1_ENST00000395330

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 2|198 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:32845503T>G (GRCh38)

Gene symbol

PSMB9

Gene constraints

LOEUF: 0.95, LOF (oe): 0.61, misssense (oe): 0.78, synonymous (oe): 0.78 ? (gnomAD)

Ensembl transcript ID

ENST00000395330.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-10+1229T>G
g.1368T>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	rs541148983
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	45	6042	6087

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.181	0.004
	0.464	0.007
(flanking)	-0.507	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

N/A

AA sequence altered

N/A

Chromosome

6

Strand

1

Original gDNA sequence snippet

TCATCCTGGAGGCAGCTGCCTACTCTGCAGCTGTGGTTCTC

Altered gDNA sequence snippet

TCATCCTGGAGGCAGCTGCCGACTCTGCAGCTGTGGTTCTC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAVEFDGGVV MGSDSRVSAG EAVVNRVFDK LSPLHERIYC ALSGSAADAQ AVADMAAYQL
ELHGIELEEP PLVLAAANVV RNISYKYRED LSAHLMVAGW DQREGGQVYG TLGGMLTRQP
FAIGGSGSTF IYGYVDAAYK PGMSPEECRR FTTDAIALAM SRDGSSGGVI YLVTITAAGV
DHRVILGNEL PKFYDE*

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

149 / 149

Last intron/exon boundary

611

Theoretical NMD boundary in CDS

412

Length of CDS

591

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

1368

Chromosomal position

32845503

Speed

0.02 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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