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 0.28 s - this script 2.66437 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000643049	TAP1	Deleterious	63\|37	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000395330	PSMB9	Benign	16\|184	without_aae	No	Single base exchange	N/A
ENST00000354258(MANE Select)	TAP1	Benign	34\|66	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000698422	TAP1	Benign	36\|64	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000698423	TAP1	Benign	36\|64	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000698424	TAP1	Benign	36\|64	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

6:32845659C>G_5_ENST00000643049

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 63|37 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845659C>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

CDS

DNA changes

c.712G>C
g.8158G>C

AA changes

AAE:	G238R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs768348425
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	34	34

Protein conservation

Species	Match	AA	Alignment
Human		238	I	L	F	L	E	G	G	A	I	R	E	G	G	T	H	Q	Q	L	M	E	K	K	G	C
mutated	not conserved	238	I	L	F	L	E	G	G	A	I	R	E	R	G	T
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)	0.015	0.002
	-0.09	0.019
(flanking)	2.168	0.964

?

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

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered gDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

Original cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

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 EGGAIRERGT
HQQLMEKKGC YWAMVQAPAD APE*

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

712

cDNA position

892

gDNA position

8158

Chromosomal position

32845659

Speed

0.04 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:

6:32845659C>G_1_ENST00000395330

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 16|184 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845659C>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+1385C>G
g.1524C>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	rs768348425
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	34	34

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.015	0.002
	-0.09	0.019
(flanking)	2.168	0.964

?

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

GAGCTGCTGGTGGGTTCCCCCCTCCCGGATAGCGCCTCCTT

Altered gDNA sequence snippet

GAGCTGCTGGTGGGTTCCCCGCTCCCGGATAGCGCCTCCTT

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

1524

Chromosomal position

32845659

Speed

0.01 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:

6:32845659C>G_2_ENST00000354258

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 34|66 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845659C>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

TAP1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2167G>C
g.8158G>C

AA changes

AAE:	G723R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs768348425
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	34	34

Protein conservation

Species	Match	AA	Alignment
Human		723	I	L	F	L	E	G	G	A	I	R	E	G	G	T	H	Q	Q	L	M	E	K	K	G	C
mutated	not conserved	723										R	E	R	G	T	H	Q	Q	L	M	E	K	K	G
Ptroglodytes	all identical	783										R	E	G	G	T	H	Q	Q	L	M	E	K	K	G
Mmulatta	no alignment	n/a
Fcatus	not conserved	723										C	E	A	G	T	H	Q	Q	L	M	E	R	N	G
Mmusculus	not conserved	699	I	L	F	L	R	E	G	S	V	G	E	Q	G	T	H	L	Q	L	M	K	R	G	G
Ggallus	not conserved	550	V	V	V	L	E	G	G	E	V	R	Q	E	G	P	P	H	E	V	L	R	P	G	S
Trubripes	not conserved	687	I	V	V	L	G	D	G	T	V	K	E	E	G	S	H	T	E	L	M	A	K	G	R
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	not conserved	3247	I	I	V	M	K	A	G	Q	V	M	E	V	G	T	H	E	T	L	I	E	Q	K	G
Xtropicalis	not conserved	1182	I	L	V	L	E	G	G	C	I	T	E	E	G	T	H	E	Q	L	M	A	Q	K	G

Protein features

Start (aa)	End (aa)	Feature	Details
1	748	CHAIN		lost
465	748	TOPO_DOM	Cytoplasmic	lost
503	742	DOMAIN	ABC transporter	lost
719	724	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.015	0.002
	-0.09	0.019
(flanking)	2.168	0.964

?

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

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered gDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

Original cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

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
RERGTHQQLM EKKGCYWAMV QAPADAPE*

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

2167

cDNA position

2235

gDNA position

8158

Chromosomal position

32845659

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:

6:32845659C>G_3_ENST00000698422

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 36|64 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845659C>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

CDS

DNA changes

c.1978G>C
g.8158G>C

AA changes

AAE:	G660R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs768348425
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	34	34

Protein conservation

Species	Match	AA	Alignment
Human		660	I	L	F	L	E	G	G	A	I	R	E	G	G	T	H	Q	Q	L	M	E	K	K	G	C
mutated	not conserved	660	I	L	F	L	E	G	G	A	I	R	E	R	G	T	H	Q	Q	L	M	E	K	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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.015	0.002
	-0.09	0.019
(flanking)	2.168	0.964

?

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

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered gDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

Original cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

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 FLEGGAIRER
GTHQQLMEKK GCYWAMVQAP ADAPE*

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

1978

cDNA position

2046

gDNA position

8158

Chromosomal position

32845659

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

Back to summary table

MutationT@ster 2025

Variant:

6:32845659C>G_4_ENST00000698423

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 36|64 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845659C>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.2262G>C
g.8158G>C

AA changes

AAE:	R754S	?
Score:	110

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs768348425
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	34	34

Protein conservation

Species	Match	AA	Alignment
Human		754	T	S	S	F	W	K	E	A	L	S	G	R	G	E	P	T	S	S	S	W	R	K	R	G
mutated	not conserved	754	T	S	S	F	W	K	E	A	L	S	G	S	G	E	P	T	S	S	S	W	R	K	R
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)	0.015	0.002
	-0.09	0.019
(flanking)	2.168	0.964

?

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

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered gDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

Original cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

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 LSGSGEPTSS 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

2262

cDNA position

2343

gDNA position

8158

Chromosomal position

32845659

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:

6:32845659C>G_6_ENST00000698424

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 36|64 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:32845659C>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

CDS

DNA changes

c.2038G>C
g.8158G>C

AA changes

AAE:	G680R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs768348425
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	34	34

Protein conservation

Species	Match	AA	Alignment
Human		680	I	L	F	L	E	G	G	A	I	R	E	G	G	T	H	Q	Q	L	M	E	K	K	G	C
mutated	not conserved	680	I	L	F	L	E	G	G	A	I	R	E	R	G	T	H	Q	Q	L	M	E	K	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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.015	0.002
	-0.09	0.019
(flanking)	2.168	0.964

?

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

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered gDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

Original cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGGGGGGAACCCACCAGCAGCTC

Altered cDNA sequence snippet

AAGGAGGCGCTATCCGGGAGCGGGGAACCCACCAGCAGCTC

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 FLEGGAIRER GTHQQLMEKK GCYWAMVQAP ADAPE*

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

2038

cDNA position

2101

gDNA position

8158

Chromosomal position

32845659

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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