Yum, tasty mutations...

MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
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 0.59 s - this script 3.037182 s

Transcript summary:

Permalink
TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
TAP1Deleterious10|0complex_aaeNoSingle base exchangeN/A
  • Amino acid sequence changed
TAP1Deleterious10|0complex_aaeNoSingle base exchangeN/A
  • Amino acid sequence changed
ENST00000354258(MANE Select)
TAP1Deleterious10|0complex_aaeNoSingle base exchangeN/A
  • Amino acid sequence changed
  • Protein features (might be) affected
TAP1Deleterious10|0complex_aaeNoSingle base exchangeN/A
  • Amino acid sequence changed
PSMB9Benign11|189without_aaeNoSingle base exchangeN/A
TAP1Benign48|52simple_aaeNoSingle base exchangeNormal
  • Amino acid sequence changed
Yum, tasty mutations...

MutationT@ster 2025

Variant:

6:32845677C>A_3_ENST00000698422

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr6:32845677C>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.1960G>T
g.8140G>T
AA changes
AAE:E653-G654-G655-A656-I657-R658-E659-G660-G661-T662-H663-Q664-Q665-L666-M667-E668-K669-K670-G671-C672-Y673-W674-A675-M676-V677-Q678-A679-P680-A681-D682-A683-P684-?
Score:--------------------------------
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs937604777
gnomADhomozygous (A/A)heterozygousallele carriers
022
Protein conservation
SpeciesMatchGeneAAAlignment
Human      653LVEQADHILFLEGGAIREGGTHQQ
mutated  all conserved    653LVEQADHILFLE
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
PhyloPPhastCons
(flanking)0.4490.801
2.1090.827
(flanking)-0.0750.801
?
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 ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered gDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
Original cDNA sequence snippet ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered cDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
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 FLE*
Position of stopcodon in wt / mu CDS 2058 / 1962
Position (AA) of stopcodon in wt / mu AA sequence 686 / 654
Position of stopcodon in wt / mu cDNA 2126 / 2030
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 1960
cDNA position 2028
gDNA position 8140
Chromosomal position 32845677
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

6:32845677C>A_5_ENST00000643049

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr6:32845677C>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.694G>T
g.8140G>T
AA changes
AAE:E231-G232-G233-A234-I235-R236-E237-G238-G239-T240-H241-Q242-Q243-L244-M245-E246-K247-K248-G249-C250-Y251-W252-A253-M254-V255-Q256-A257-P258-A259-D260-A261-P262-?
Score:--------------------------------
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs937604777
gnomADhomozygous (A/A)heterozygousallele carriers
022
Protein conservation
SpeciesMatchGeneAAAlignment
Human      231LVEQADHILFLEGGAIREGGTHQQ
mutated  all conserved    231LVEQADHILFLE
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
PhyloPPhastCons
(flanking)0.4490.801
2.1090.827
(flanking)-0.0750.801
?
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 ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered gDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
Original cDNA sequence snippet ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered cDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
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 E*
Position of stopcodon in wt / mu CDS 792 / 696
Position (AA) of stopcodon in wt / mu AA sequence 264 / 232
Position of stopcodon in wt / mu cDNA 972 / 876
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 694
cDNA position 874
gDNA position 8140
Chromosomal position 32845677
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

6:32845677C>A_2_ENST00000354258

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr6:32845677C>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.2149G>T
g.8140G>T
AA changes
AAE:E716-G717-G718-A719-I720-R721-E722-G723-G724-T725-H726-Q727-Q728-L729-M730-E731-K732-K733-G734-C735-Y736-W737-A738-M739-V740-Q741-A742-P743-A744-D745-A746-P747-?
Score:--------------------------------
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs937604777
gnomADhomozygous (A/A)heterozygousallele carriers
022
Protein conservation
SpeciesMatchGeneAAAlignment
Human      716LVEQADHILFLEGGAIREGGTHQQLMEKKGCYWAMVQAPADAPE*
mutated  all conserved    716LVEQADHILFLE
Ptroglodytes  all identical    776LVEQADHILFLEGGAIREGGTHQQLMEKKGCYWAMVQAPADAPE
Mmulatta  no alignment    n/a
Fcatus  partly conserved    716LVEQADQILFLEGGTICEAGTHQQLMERNGRYWDMMQAADGSGAPE
Mmusculus  partly conserved    692LAEQAHHILFLREGSVGEQGTHLQLMKRGGCYRAMVEALAAPAD
Ggallus  partly conserved    543LAARAQRVVVLEGGEVRQEGPPHEVLRPGSLLRDWGQQGAPGE
Trubripes  partly conserved    680DHIVVLGDGTVKEEGSHTELMAKGRFYAELVR
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  partly conserved    3240TVRNADKIIVMKAGQVMEVGTHETLIEQKGLYHELVHA
Xtropicalis  partly conserved    1175TVQRADHILVLEGGCITEEGTHEQLMAQKGSYWKLWQ
Protein features
Start (aa)End (aa)FeatureDetails 
1748CHAINlost
465748TOPO_DOMCytoplasmiclost
503742DOMAINABC transporterlost
710716STRANDlost
719724STRANDlost
726732HELIXlost
735740HELIXlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)0.4490.801
2.1090.827
(flanking)-0.0750.801
?
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 ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered gDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
Original cDNA sequence snippet ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered cDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
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 HILFLE*
Position of stopcodon in wt / mu CDS 2247 / 2151
Position (AA) of stopcodon in wt / mu AA sequence 749 / 717
Position of stopcodon in wt / mu cDNA 2315 / 2219
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 2149
cDNA position 2217
gDNA position 8140
Chromosomal position 32845677
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

6:32845677C>A_6_ENST00000698424

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr6:32845677C>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.2020G>T
g.8140G>T
AA changes
AAE:E673-G674-G675-A676-I677-R678-E679-G680-G681-T682-H683-Q684-Q685-L686-M687-E688-K689-K690-G691-C692-Y693-W694-A695-M696-V697-Q698-A699-P700-A701-D702-A703-P704-?
Score:--------------------------------
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs937604777
gnomADhomozygous (A/A)heterozygousallele carriers
022
Protein conservation
SpeciesMatchGeneAAAlignment
Human      673LVEQADHILFLEGGAIREGGTHQQ
mutated  all conserved    673LVEQADHILFLE
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
PhyloPPhastCons
(flanking)0.4490.801
2.1090.827
(flanking)-0.0750.801
?
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 ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered gDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
Original cDNA sequence snippet ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered cDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
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 FLE*
Position of stopcodon in wt / mu CDS 2118 / 2022
Position (AA) of stopcodon in wt / mu AA sequence 706 / 674
Position of stopcodon in wt / mu cDNA 2181 / 2085
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 2020
cDNA position 2083
gDNA position 8140
Chromosomal position 32845677
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

6:32845677C>A_1_ENST00000395330

Back to summary table

Prediction:

BenignPermalink

Summary:

  • Model: without_aae
  • Tree vote: 11|189 (del | benign) ?
Analysed issue Analysis result
Variant Chr6:32845677C>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+1403C>A
g.1542C>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 IDrs937604777
gnomADhomozygous (A/A)heterozygousallele carriers
022
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)0.4490.801
2.1090.827
(flanking)-0.0750.801
?
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 CCCCTCCCGGATAGCGCCTCCTTCCAGAAAGAGGATGTGGT
Altered gDNA sequence snippet CCCCTCCCGGATAGCGCCTCATTCCAGAAAGAGGATGTGGT
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 1542
Chromosomal position 32845677
Speed 0.03 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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Yum, tasty mutations...

MutationT@ster 2025

Variant:

6:32845677C>A_4_ENST00000698423

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Prediction:

BenignPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 48|52 (del | benign) ?
Analysed issue Analysis result
Variant Chr6:32845677C>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.2244G>T
g.8140G>T
AA changes
AAE:K748N?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs937604777
gnomADhomozygous (A/A)heterozygousallele carriers
022
Protein conservation
SpeciesMatchGeneAAAlignment
Human      748WWSRLTTSSFWKEALSGRGEPTSS
mutated  not conserved    748WWSRLTTSSFWNEALSGRGEPTS
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
PhyloPPhastCons
(flanking)0.4490.801
2.1090.827
(flanking)-0.0750.801
?
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 ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered gDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
Original cDNA sequence snippet ACCACATCCTCTTTCTGGAAGGAGGCGCTATCCGGGAGGGG
Altered cDNA sequence snippet ACCACATCCTCTTTCTGGAATGAGGCGCTATCCGGGAGGGG
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 LTTSSFWNEA 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 2244
cDNA position 2325
gDNA position 8140
Chromosomal position 32845677
Speed 0.12 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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