Yum, tasty mutations...

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: ENST00000394309
Querying Taster for transcript #2: ENST00000437628
Querying Taster for transcript #3: ENST00000394308
Querying Taster for transcript #4: ENST00000422745
Querying Taster for transcript #5: ENST00000455086
Querying Taster for transcript #6: ENST00000444334
Querying Taster for transcript #7: ENST00000175506
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MT speed 1.69 s - this script 8.194876 s

Transcript summary:

Permalink
TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
ENST00000394308(MANE Select)
ASNSDeleterious76|24simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 383733 (pathogenic)
  • Protein features (might be) affected
ASNSDeleterious85|15simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 383733 (pathogenic)
  • Protein features (might be) affected
ASNSDeleterious85|15simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 383733 (pathogenic)
  • Protein features (might be) affected
ASNSDeleterious85|15simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 383733 (pathogenic)
  • Protein features (might be) affected
ASNSDeleterious85|15simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 383733 (pathogenic)
  • Protein features (might be) affected
ASNSDeleterious194|6without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 383733 (pathogenic)
Yum, tasty mutations...

MutationT@ster 2025

Variant:

7:97869011C>T_3_ENST00000394308

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 76|24 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr7:97869011C>T (GRCh38)
Gene symbol ASNS
Gene constraints LOEUF: 0.74, LOF (oe): 0.56, misssense (oe): 0.74, synonymous (oe): 0.83 ? (gnomAD)
Ensembl transcript ID ENST00000394308.8
Genbank transcript ID NM_001673 (exact from MANE), NM_001352496 (by similarity), NM_183356 (by similarity)
UniProt / AlphaMissense peptide ASNS_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.146G>A
g.3532G>A
AA changes
AAE:R49Q?
Score:43
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Neurodevelopmental delay		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs769236847
gnomADhomozygous (T/T)heterozygousallele carriers
01313
Protein conservation
SpeciesMatchGeneAAAlignment
Human      49NGYTNCCFGFHRLAVVDPLFGMQP
mutated  all conserved    49NGYTNCCFGFHQLAVVDPLFGMQ
Ptroglodytes  all identical    49NGYTNCCFGFHRLAVVDPLFGMQ
Mmulatta  all identical    49NGYTNCCFGFHRLAVVDPLFGMQ
Fcatus  all identical    49NGYTNCCFGFHRLAVVDQLFGMQ
Mmusculus  all identical    49NGYTNCCFGFHRLAVVDPLFGMQ
Ggallus  all identical    49NGFTNCCFGFHRLAVVDQLYGMQ
Trubripes  all identical    49NGFTNCCFGFHRLAIMDQLHGMQ
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical    67NGFTNCCFGFHRLAIVDQLYGMQ
Protein features
Start (aa)End (aa)FeatureDetails 
2191DOMAINGlutamine amidotransferase type-2lost
2561CHAINlost
4049STRANDlost
4953BINDINGL-glutaminelost
Phylogenetic conservation
PhyloPPhastCons
(flanking)-1.1470.005
7.0951
(flanking)9.0661
?
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 7
Strand -1
Original gDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered gDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Original cDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered cDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Wildtype AA sequence MCGIWALFGS DDCLSVQCLS AMKIAHRGPD AFRFENVNGY TNCCFGFHRL AVVDPLFGMQ
PIRVKKYPYL WLCYNGEIYN HKKMQQHFEF EYQTKVDGEI ILHLYDKGGI EQTICMLDGV
FAFVLLDTAN KKVFLGRDTY GVRPLFKAMT EDGFLAVCSE AKGLVTLKHS ATPFLKVEPF
LPGHYEVLDL KPNGKVASVE MVKYHHCRDV PLHALYDNVE KLFPGFEIET VKNNLRILFN
NAVKKRLMTD RRIGCLLSGG LDSSLVAATL LKQLKEAQVQ YPLQTFAIGM EDSPDLLAAR
KVADHIGSEH YEVLFNSEEG IQALDEVIFS LETYDITTVR ASVGMYLISK YIRKNTDSVV
IFSGEGSDEL TQGYIYFHKA PSPEKAEEES ERLLRELYLF DVLRADRTTA AHGLELRVPF
LDHRFSSYYL SLPPEMRIPK NGIEKHLLRE TFEDSNLIPK EILWRPKEAF SDGITSVKNS
WFKILQEYVE HQVDDAMMAN AAQKFPFNTP KTKEGYYYRQ VFERHYPGRA DWLSHYWMPK
WINATDPSAR TLTHYKSAVK A*
Mutated AA sequence MCGIWALFGS DDCLSVQCLS AMKIAHRGPD AFRFENVNGY TNCCFGFHQL AVVDPLFGMQ
PIRVKKYPYL WLCYNGEIYN HKKMQQHFEF EYQTKVDGEI ILHLYDKGGI EQTICMLDGV
FAFVLLDTAN KKVFLGRDTY GVRPLFKAMT EDGFLAVCSE AKGLVTLKHS ATPFLKVEPF
LPGHYEVLDL KPNGKVASVE MVKYHHCRDV PLHALYDNVE KLFPGFEIET VKNNLRILFN
NAVKKRLMTD RRIGCLLSGG LDSSLVAATL LKQLKEAQVQ YPLQTFAIGM EDSPDLLAAR
KVADHIGSEH YEVLFNSEEG IQALDEVIFS LETYDITTVR ASVGMYLISK YIRKNTDSVV
IFSGEGSDEL TQGYIYFHKA PSPEKAEEES ERLLRELYLF DVLRADRTTA AHGLELRVPF
LDHRFSSYYL SLPPEMRIPK NGIEKHLLRE TFEDSNLIPK EILWRPKEAF SDGITSVKNS
WFKILQEYVE HQVDDAMMAN AAQKFPFNTP KTKEGYYYRQ VFERHYPGRA DWLSHYWMPK
WINATDPSAR TLTHYKSAVK A*
Position of stopcodon in wt / mu CDS 1686 / 1686
Position (AA) of stopcodon in wt / mu AA sequence 562 / 562
Position of stopcodon in wt / mu cDNA 1803 / 1803
Position of start ATG in wt / mu cDNA 118 / 118
Last intron/exon boundary 1593
Theoretical NMD boundary in CDS 1425
Length of CDS 1686
Coding sequence (CDS) position 146
cDNA position 263
gDNA position 3532
Chromosomal position 97869011
Speed 0.20 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:

7:97869011C>T_1_ENST00000394309

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 85|15 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr7:97869011C>T (GRCh38)
Gene symbol ASNS
Gene constraints LOEUF: 0.74, LOF (oe): 0.56, misssense (oe): 0.74, synonymous (oe): 0.83 ? (gnomAD)
Ensembl transcript ID ENST00000394309.7
Genbank transcript ID NM_133436 (by similarity)
UniProt / AlphaMissense peptide ASNS_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.146G>A
g.3532G>A
AA changes
AAE:R49Q?
Score:43
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Neurodevelopmental delay		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs769236847
gnomADhomozygous (T/T)heterozygousallele carriers
01313
Protein conservation
SpeciesMatchGeneAAAlignment
Human      49NGYTNCCFGFHRLAVVDPLFGMQP
mutated  all conserved    49NGYTNCCFGFHQLAVVDPLFGMQ
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
Start (aa)End (aa)FeatureDetails 
2191DOMAINGlutamine amidotransferase type-2lost
2561CHAINlost
4049STRANDlost
4953BINDINGL-glutaminelost
Phylogenetic conservation
PhyloPPhastCons
(flanking)-1.1470.005
7.0951
(flanking)9.0661
?
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 7
Strand -1
Original gDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered gDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Original cDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered cDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Wildtype AA sequence MCGIWALFGS DDCLSVQCLS AMKIAHRGPD AFRFENVNGY TNCCFGFHRL AVVDPLFGMQ
PIRVKKYPYL WLCYNGEIYN HKKMQQHFEF EYQTKVDGEI ILHLYDKGGI EQTICMLDGV
FAFVLLDTAN KKVFLGRDTY GVRPLFKAMT EDGFLAVCSE AKGLVTLKHS ATPFLKVEPF
LPGHYEVLDL KPNGKVASVE MVKYHHCRDV PLHALYDNVE KLFPGFEIET VKNNLRILFN
NAVKKRLMTD RRIGCLLSGG LDSSLVAATL LKQLKEAQVQ YPLQTFAIGM EDSPDLLAAR
KVADHIGSEH YEVLFNSEEG IQALDEVIFS LETYDITTVR ASVGMYLISK YIRKNTDSVV
IFSGEGSDEL TQGYIYFHKA PSPEKAEEES ERLLRELYLF DVLRADRTTA AHGLELRVPF
LDHRFSSYYL SLPPEMRIPK NGIEKHLLRE TFEDSNLIPK EILWRPKEAF SDGITSVKNS
WFKILQEYVE HQVDDAMMAN AAQKFPFNTP KTKEGYYYRQ VFERHYPGRA DWLSHYWMPK
WINATDPSAR TLTHYKSAVK A*
Mutated AA sequence MCGIWALFGS DDCLSVQCLS AMKIAHRGPD AFRFENVNGY TNCCFGFHQL AVVDPLFGMQ
PIRVKKYPYL WLCYNGEIYN HKKMQQHFEF EYQTKVDGEI ILHLYDKGGI EQTICMLDGV
FAFVLLDTAN KKVFLGRDTY GVRPLFKAMT EDGFLAVCSE AKGLVTLKHS ATPFLKVEPF
LPGHYEVLDL KPNGKVASVE MVKYHHCRDV PLHALYDNVE KLFPGFEIET VKNNLRILFN
NAVKKRLMTD RRIGCLLSGG LDSSLVAATL LKQLKEAQVQ YPLQTFAIGM EDSPDLLAAR
KVADHIGSEH YEVLFNSEEG IQALDEVIFS LETYDITTVR ASVGMYLISK YIRKNTDSVV
IFSGEGSDEL TQGYIYFHKA PSPEKAEEES ERLLRELYLF DVLRADRTTA AHGLELRVPF
LDHRFSSYYL SLPPEMRIPK NGIEKHLLRE TFEDSNLIPK EILWRPKEAF SDGITSVKNS
WFKILQEYVE HQVDDAMMAN AAQKFPFNTP KTKEGYYYRQ VFERHYPGRA DWLSHYWMPK
WINATDPSAR TLTHYKSAVK A*
Position of stopcodon in wt / mu CDS 1686 / 1686
Position (AA) of stopcodon in wt / mu AA sequence 562 / 562
Position of stopcodon in wt / mu cDNA 2158 / 2158
Position of start ATG in wt / mu cDNA 473 / 473
Last intron/exon boundary 1948
Theoretical NMD boundary in CDS 1425
Length of CDS 1686
Coding sequence (CDS) position 146
cDNA position 618
gDNA position 3532
Chromosomal position 97869011
Speed 0.42 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:

7:97869011C>T_4_ENST00000422745

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 85|15 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr7:97869011C>T (GRCh38)
Gene symbol ASNS
Gene constraints LOEUF: 0.74, LOF (oe): 0.55, misssense (oe): 0.75, synonymous (oe): 0.84 ? (gnomAD)
Ensembl transcript ID ENST00000422745.5
Genbank transcript ID
UniProt / AlphaMissense peptide ASNS_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.83G>A
g.3532G>A
AA changes
AAE:R28Q?
Score:43
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Neurodevelopmental delay		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs769236847
gnomADhomozygous (T/T)heterozygousallele carriers
01313
Protein conservation
SpeciesMatchGeneAAAlignment
Human      28NGYTNCCFGFHRLAVVDPLFGMQP
mutated  all conserved    28NGYTNCCFGFHQLAVVDPLFGMQ
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
Start (aa)End (aa)FeatureDetails 
2191DOMAINGlutamine amidotransferase type-2lost
2561CHAINlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)-1.1470.005
7.0951
(flanking)9.0661
?
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 7
Strand -1
Original gDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered gDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Original cDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered cDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Wildtype AA sequence MKIAHRGPDA FRFENVNGYT NCCFGFHRLA VVDPLFGMQP IRVKKYPYLW LCYNGEIYNH
KKMQQHFEFE YQTKVDGEII LHLYDKGGIE QTICMLDGVF AFVLLDTANK KVFLGRDTYG
VRPLFKAMTE DGFLAVCSEA KGLVTLKHSA TPFLKVEPFL PGHYEVLDLK PNGKVASVEM
VKYHHCRDVP LHALYDNVEK LFPGFEIETV KNNLRILFNN AVKKRLMTDR RIGCLLSGGL
DSSLVAATLL KQLKEAQVQY PLQTFAIGME DSPDLLAARK VADHIGSEHY EVLFNSEEGI
QALDEVIFSL ETYDITTVRA SVGMYLISKY IRKNTDSVVI FSGEGSDELT QGYIYFHKAP
SPEKAEEESE RLLRELYLFD VLRADRTTAA HGLELRVPFL DHRFSSYYLS LPPEMRIPKN
GIEKHLLRET FEDSNLIPKE ILWRPKEAFS DGITSVKNSW FKILQEYVEH QVDDAMMANA
AQKFPFNTPK TKEGYYYRQV FERHYPGRAD WLSHYWMPKW INATDPSART LTHYKSAVKA
*
Mutated AA sequence MKIAHRGPDA FRFENVNGYT NCCFGFHQLA VVDPLFGMQP IRVKKYPYLW LCYNGEIYNH
KKMQQHFEFE YQTKVDGEII LHLYDKGGIE QTICMLDGVF AFVLLDTANK KVFLGRDTYG
VRPLFKAMTE DGFLAVCSEA KGLVTLKHSA TPFLKVEPFL PGHYEVLDLK PNGKVASVEM
VKYHHCRDVP LHALYDNVEK LFPGFEIETV KNNLRILFNN AVKKRLMTDR RIGCLLSGGL
DSSLVAATLL KQLKEAQVQY PLQTFAIGME DSPDLLAARK VADHIGSEHY EVLFNSEEGI
QALDEVIFSL ETYDITTVRA SVGMYLISKY IRKNTDSVVI FSGEGSDELT QGYIYFHKAP
SPEKAEEESE RLLRELYLFD VLRADRTTAA HGLELRVPFL DHRFSSYYLS LPPEMRIPKN
GIEKHLLRET FEDSNLIPKE ILWRPKEAFS DGITSVKNSW FKILQEYVEH QVDDAMMANA
AQKFPFNTPK TKEGYYYRQV FERHYPGRAD WLSHYWMPKW INATDPSART LTHYKSAVKA
*
Position of stopcodon in wt / mu CDS 1623 / 1623
Position (AA) of stopcodon in wt / mu AA sequence 541 / 541
Position of stopcodon in wt / mu cDNA 1752 / 1752
Position of start ATG in wt / mu cDNA 130 / 130
Last intron/exon boundary 1542
Theoretical NMD boundary in CDS 1362
Length of CDS 1623
Coding sequence (CDS) position 83
cDNA position 212
gDNA position 3532
Chromosomal position 97869011
Speed 0.21 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:

7:97869011C>T_6_ENST00000444334

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 85|15 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr7:97869011C>T (GRCh38)
Gene symbol ASNS
Gene constraints LOEUF: 0.74, LOF (oe): 0.55, misssense (oe): 0.75, synonymous (oe): 0.84 ? (gnomAD)
Ensembl transcript ID ENST00000444334.5
Genbank transcript ID NM_001178075 (by similarity)
UniProt / AlphaMissense peptide ASNS_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.83G>A
g.3532G>A
AA changes
AAE:R28Q?
Score:43
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Neurodevelopmental delay		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs769236847
gnomADhomozygous (T/T)heterozygousallele carriers
01313
Protein conservation
SpeciesMatchGeneAAAlignment
Human      28NGYTNCCFGFHRLAVVDPLFGMQP
mutated  all conserved    28NGYTNCCFGFHQLAVVDPLFGMQ
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
Start (aa)End (aa)FeatureDetails 
2191DOMAINGlutamine amidotransferase type-2lost
2561CHAINlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)-1.1470.005
7.0951
(flanking)9.0661
?
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 7
Strand -1
Original gDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered gDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Original cDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered cDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Wildtype AA sequence MKIAHRGPDA FRFENVNGYT NCCFGFHRLA VVDPLFGMQP IRVKKYPYLW LCYNGEIYNH
KKMQQHFEFE YQTKVDGEII LHLYDKGGIE QTICMLDGVF AFVLLDTANK KVFLGRDTYG
VRPLFKAMTE DGFLAVCSEA KGLVTLKHSA TPFLKVEPFL PGHYEVLDLK PNGKVASVEM
VKYHHCRDVP LHALYDNVEK LFPGFEIETV KNNLRILFNN AVKKRLMTDR RIGCLLSGGL
DSSLVAATLL KQLKEAQVQY PLQTFAIGME DSPDLLAARK VADHIGSEHY EVLFNSEEGI
QALDEVIFSL ETYDITTVRA SVGMYLISKY IRKNTDSVVI FSGEGSDELT QGYIYFHKAP
SPEKAEEESE RLLRELYLFD VLRADRTTAA HGLELRVPFL DHRFSSYYLS LPPEMRIPKN
GIEKHLLRET FEDSNLIPKE ILWRPKEAFS DGITSVKNSW FKILQEYVEH QVDDAMMANA
AQKFPFNTPK TKEGYYYRQV FERHYPGRAD WLSHYWMPKW INATDPSART LTHYKSAVKA
*
Mutated AA sequence MKIAHRGPDA FRFENVNGYT NCCFGFHQLA VVDPLFGMQP IRVKKYPYLW LCYNGEIYNH
KKMQQHFEFE YQTKVDGEII LHLYDKGGIE QTICMLDGVF AFVLLDTANK KVFLGRDTYG
VRPLFKAMTE DGFLAVCSEA KGLVTLKHSA TPFLKVEPFL PGHYEVLDLK PNGKVASVEM
VKYHHCRDVP LHALYDNVEK LFPGFEIETV KNNLRILFNN AVKKRLMTDR RIGCLLSGGL
DSSLVAATLL KQLKEAQVQY PLQTFAIGME DSPDLLAARK VADHIGSEHY EVLFNSEEGI
QALDEVIFSL ETYDITTVRA SVGMYLISKY IRKNTDSVVI FSGEGSDELT QGYIYFHKAP
SPEKAEEESE RLLRELYLFD VLRADRTTAA HGLELRVPFL DHRFSSYYLS LPPEMRIPKN
GIEKHLLRET FEDSNLIPKE ILWRPKEAFS DGITSVKNSW FKILQEYVEH QVDDAMMANA
AQKFPFNTPK TKEGYYYRQV FERHYPGRAD WLSHYWMPKW INATDPSART LTHYKSAVKA
*
Position of stopcodon in wt / mu CDS 1623 / 1623
Position (AA) of stopcodon in wt / mu AA sequence 541 / 541
Position of stopcodon in wt / mu cDNA 1757 / 1757
Position of start ATG in wt / mu cDNA 135 / 135
Last intron/exon boundary 1547
Theoretical NMD boundary in CDS 1362
Length of CDS 1623
Coding sequence (CDS) position 83
cDNA position 217
gDNA position 3532
Chromosomal position 97869011
Speed 0.43 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:

7:97869011C>T_7_ENST00000175506

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 85|15 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr7:97869011C>T (GRCh38)
Gene symbol ASNS
Gene constraints LOEUF: 0.74, LOF (oe): 0.56, misssense (oe): 0.74, synonymous (oe): 0.83 ? (gnomAD)
Ensembl transcript ID ENST00000175506.8
Genbank transcript ID
UniProt / AlphaMissense peptide ASNS_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.146G>A
g.3532G>A
AA changes
AAE:R49Q?
Score:43
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Neurodevelopmental delay		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs769236847
gnomADhomozygous (T/T)heterozygousallele carriers
01313
Protein conservation
SpeciesMatchGeneAAAlignment
Human      49NGYTNCCFGFHRLAVVDPLFGMQP
mutated  all conserved    49NGYTNCCFGFHQLAVVDPLFGMQ
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
Start (aa)End (aa)FeatureDetails 
2191DOMAINGlutamine amidotransferase type-2lost
2561CHAINlost
4049STRANDlost
4953BINDINGL-glutaminelost
Phylogenetic conservation
PhyloPPhastCons
(flanking)-1.1470.005
7.0951
(flanking)9.0661
?
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 7
Strand -1
Original gDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered gDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Original cDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered cDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Wildtype AA sequence MCGIWALFGS DDCLSVQCLS AMKIAHRGPD AFRFENVNGY TNCCFGFHRL AVVDPLFGMQ
PIRVKKYPYL WLCYNGEIYN HKKMQQHFEF EYQTKVDGEI ILHLYDKGGI EQTICMLDGV
FAFVLLDTAN KKVFLGRDTY GVRPLFKAMT EDGFLAVCSE AKGLVTLKHS ATPFLKVEPF
LPGHYEVLDL KPNGKVASVE MVKYHHCRDV PLHALYDNVE KLFPGFEIET VKNNLRILFN
NAVKKRLMTD RRIGCLLSGG LDSSLVAATL LKQLKEAQVQ YPLQTFAIGM EDSPDLLAAR
KVADHIGSEH YEVLFNSEEG IQALDEVIFS LETYDITTVR ASVGMYLISK YIRKNTDSVV
IFSGEGSDEL TQGYIYFHKA PSPEKAEEES ERLLRELYLF DVLRADRTTA AHGLELRVPF
LDHRFSSYYL SLPPEMRIPK NGIEKHLLRE TFEDSNLIPK EILWRPKEAF SDGITSVKNS
WFKILQEYVE HQVDDAMMAN AAQKFPFNTP KTKEGYYYRQ VFERHYPGRA DWLSHYWMPK
WINATDPSAR TLTHYKSAVK A*
Mutated AA sequence MCGIWALFGS DDCLSVQCLS AMKIAHRGPD AFRFENVNGY TNCCFGFHQL AVVDPLFGMQ
PIRVKKYPYL WLCYNGEIYN HKKMQQHFEF EYQTKVDGEI ILHLYDKGGI EQTICMLDGV
FAFVLLDTAN KKVFLGRDTY GVRPLFKAMT EDGFLAVCSE AKGLVTLKHS ATPFLKVEPF
LPGHYEVLDL KPNGKVASVE MVKYHHCRDV PLHALYDNVE KLFPGFEIET VKNNLRILFN
NAVKKRLMTD RRIGCLLSGG LDSSLVAATL LKQLKEAQVQ YPLQTFAIGM EDSPDLLAAR
KVADHIGSEH YEVLFNSEEG IQALDEVIFS LETYDITTVR ASVGMYLISK YIRKNTDSVV
IFSGEGSDEL TQGYIYFHKA PSPEKAEEES ERLLRELYLF DVLRADRTTA AHGLELRVPF
LDHRFSSYYL SLPPEMRIPK NGIEKHLLRE TFEDSNLIPK EILWRPKEAF SDGITSVKNS
WFKILQEYVE HQVDDAMMAN AAQKFPFNTP KTKEGYYYRQ VFERHYPGRA DWLSHYWMPK
WINATDPSAR TLTHYKSAVK A*
Position of stopcodon in wt / mu CDS 1686 / 1686
Position (AA) of stopcodon in wt / mu AA sequence 562 / 562
Position of stopcodon in wt / mu cDNA 2215 / 2215
Position of start ATG in wt / mu cDNA 530 / 530
Last intron/exon boundary 2005
Theoretical NMD boundary in CDS 1425
Length of CDS 1686
Coding sequence (CDS) position 146
cDNA position 675
gDNA position 3532
Chromosomal position 97869011
Speed 0.41 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:

7:97869011C>T_5_ENST00000455086

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Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 194|6 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr7:97869011C>T (GRCh38)
Gene symbol ASNS
Gene constraints LOEUF: 0.81, LOF (oe): 0.60, misssense (oe): 0.74, synonymous (oe): 0.84 ? (gnomAD)
Ensembl transcript ID ENST00000455086.5
Genbank transcript ID NM_001178076 (by similarity)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.-1+3340G>A
g.3532G>A
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Neurodevelopmental delay		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs769236847
gnomADhomozygous (T/T)heterozygousallele carriers
01313
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)-1.1470.005
7.0951
(flanking)9.0661
?
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 7
Strand -1
Original gDNA sequence snippet CTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGC
Altered gDNA sequence snippet CTGCTGCTTTGGATTTCACCAGTTGGCGGTAGTTGACCCGC
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MQQHFEFEYQ TKVDGEIILH LYDKGGIEQT ICMLDGVFAF VLLDTANKKV FLGRDTYGVR
PLFKAMTEDG FLAVCSEAKG LVTLKHSATP FLKVEPFLPG HYEVLDLKPN GKVASVEMVK
YHHCRDVPLH ALYDNVEKLF PGFEIETVKN NLRILFNNAV KKRLMTDRRI GCLLSGGLDS
SLVAATLLKQ LKEAQVQYPL QTFAIGMEDS PDLLAARKVA DHIGSEHYEV LFNSEEGIQA
LDEVIFSLET YDITTVRASV GMYLISKYIR KNTDSVVIFS GEGSDELTQG YIYFHKAPSP
EKAEEESERL LRELYLFDVL RADRTTAAHG LELRVPFLDH RFSSYYLSLP PEMRIPKNGI
EKHLLRETFE DSNLIPKEIL WRPKEAFSDG ITSVKNSWFK ILQEYVEHQV DDAMMANAAQ
KFPFNTPKTK EGYYYRQVFE RHYPGRADWL SHYWMPKWIN ATDPSARTLT HYKSAVKA*
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 45 / 45
Last intron/exon boundary 1271
Theoretical NMD boundary in CDS 1176
Length of CDS 1437
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 3532
Chromosomal position 97869011
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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