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 1.46 s - this script 3.851208 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000698423	TAP1	Benign	1\|199	without_aae	No	Single base exchange	Normal
ENST00000395330	PSMB9	Benign	3\|197	without_aae	No	Single base exchange	N/A
ENST00000698422	TAP1	Benign	18\|82	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000698424	TAP1	Benign	18\|82	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000643049	TAP1	Benign	47\|53	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000354258(MANE Select)	TAP1	Benign	49\|51	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:32845587G>A_4_ENST00000698423

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 1|199 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845587G>A (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.2334C>T
g.8230C>T

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	rs1323970381
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.789	0.004
	0.668	0.003
(flanking)	0.322	0.002

?

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

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

Original cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

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

2334

cDNA position

2415

gDNA position

8230

Chromosomal position

32845587

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:

6:32845587G>A_1_ENST00000395330

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 3|197 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845587G>A (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+1313G>A
g.1452G>A

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	rs1323970381
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.789	0.004
	0.668	0.003
(flanking)	0.322	0.002

?

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

CTGAGAAGGCTTTCATTCTGGAGCATCTGCAGGAGCCTGCA

Altered gDNA sequence snippet

CTGAGAAGGCTTTCATTCTGAAGCATCTGCAGGAGCCTGCA

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

1452

Chromosomal position

32845587

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:

6:32845587G>A_3_ENST00000698422

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 18|82 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845587G>A (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

CDS

DNA changes

c.2050C>T
g.8230C>T

AA changes

AAE:	P684S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1323970381
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		684	Y	W	A	M	V	Q	A	P	A	D	A	P	E	*
mutated	not conserved	684	Y	W	A	M	V	Q	A	P	A	D	A	S	E
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)	0.789	0.004
	0.668	0.003
(flanking)	0.322	0.002

?

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

6

Strand

-1

Original gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

Original cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

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

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 ADASE*

Position of stopcodon in wt / mu CDS

2058 / 2058

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

686 / 686

Position of stopcodon in wt / mu cDNA

2126 / 2126

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

2050

cDNA position

2118

gDNA position

8230

Chromosomal position

32845587

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

MutationT@ster 2025

Variant:

6:32845587G>A_6_ENST00000698424

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 18|82 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845587G>A (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

CDS

DNA changes

c.2110C>T
g.8230C>T

AA changes

AAE:	P704S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1323970381
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		704	Y	W	A	M	V	Q	A	P	A	D	A	P	E	*
mutated	not conserved	704	Y	W	A	M	V	Q	A	P	A	D	A	S	E
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)	0.789	0.004
	0.668	0.003
(flanking)	0.322	0.002

?

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

6

Strand

-1

Original gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

Original cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

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

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 ADASE*

Position of stopcodon in wt / mu CDS

2118 / 2118

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

706 / 706

Position of stopcodon in wt / mu cDNA

2181 / 2181

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

2110

cDNA position

2173

gDNA position

8230

Chromosomal position

32845587

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

Back to summary table

MutationT@ster 2025

Variant:

6:32845587G>A_5_ENST00000643049

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 47|53 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845587G>A (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

CDS

DNA changes

c.784C>T
g.8230C>T

AA changes

AAE:	P262S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1323970381
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		262	Y	W	A	M	V	Q	A	P	A	D	A	P	E	*
mutated	not conserved	262	Y	W	A	M	V	Q	A	P	A	D	A	S	E
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)	0.789	0.004
	0.668	0.003
(flanking)	0.322	0.002

?

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

6

Strand

-1

Original gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

Original cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

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

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 ASE*

Position of stopcodon in wt / mu CDS

792 / 792

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

264 / 264

Position of stopcodon in wt / mu cDNA

972 / 972

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

784

cDNA position

964

gDNA position

8230

Chromosomal position

32845587

Speed

0.33 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:

6:32845587G>A_2_ENST00000354258

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 49|51 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845587G>A (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

TAP1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2239C>T
g.8230C>T

AA changes

AAE:	P747S	?
Score:	74

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1323970381
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		747	Y	W	A	M	V	Q	A	P	A	D	A	P	E	*
mutated	not conserved	747	Y	W	A	M	V	Q	A	P	A	D	A	S	E
Ptroglodytes	all identical	807	Y	W	A	M	V	Q	A	P	A	D	A	P	E
Mmulatta	no alignment	n/a
Fcatus	all identical	747	Y	W	D	M	M	Q	A	ADG	S	G	A	P	E
Mmusculus	no alignment	n/a
Ggallus	no alignment	n/a
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no alignment	n/a
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	748	CHAIN		lost
465	748	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.789	0.004
	0.668	0.003
(flanking)	0.322	0.002

?

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

6

Strand

-1

Original gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered gDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

Original cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTCCAGAATGAAAGCCTTCTCAG

Altered cDNA sequence snippet

TGCAGGCTCCTGCAGATGCTTCAGAATGAAAGCCTTCTCAG

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

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 QAPADASE*

Position of stopcodon in wt / mu CDS

2247 / 2247

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

749 / 749

Position of stopcodon in wt / mu cDNA

2315 / 2315

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

2239

cDNA position

2307

gDNA position

8230

Chromosomal position

32845587

Speed

0.40 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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