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: ENST00000682020
Querying Taster for transcript #2: ENST00000682985
Querying Taster for transcript #3: ENST00000682327
Querying Taster for transcript #4: ENST00000588623
Querying Taster for transcript #5: ENST00000684335
Querying Taster for transcript #6: ENST00000684190
Querying Taster for transcript #7: ENST00000683433
Querying Taster for transcript #8: ENST00000262374
Querying Taster for transcript #9: ENST00000544428
Querying Taster for transcript #10: ENST00000683739
MT speed 0.19 s - this script 2.644394 s

Transcript summary:

Permalink
TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
ALG1Deleterious178|22without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ALG1Deleterious180|20without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ALG1Deleterious184|16without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ALG1Deleterious184|16without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ALG1Deleterious184|16without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ALG1Deleterious184|16without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ALG1Deleterious186|14without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ALG1Deleterious187|13without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ENST00000262374(MANE Select)
ALG1Deleterious187|13without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
ALG1Deleterious188|12without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 224118 (pathogenic)
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_2_ENST00000682985

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Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 178|22 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.25, LOF (oe): 0.94, misssense (oe): 1.16, synonymous (oe): 1.07 ? (gnomAD)
Ensembl transcript ID ENST00000682985.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.698+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MGLVHGPNHP LVLLAKWYEK FFGRLSHLNL CVTNAMREDL ADNWHIRAVT VYDKPASFFK
ETPLDLQHRL FMKLGSMHSP FRARSEPEDP VTERSAFTER DAGSGLVTRL RERPALLVSS
TSWTEDEDFS ILLAALEKFE QLTLDGHNLP SLVCVITGKG PLREYYSRLI HQKHFQHIQV
CTPWLEAEDY PLLLGSADLG VCLHTSSSGL DLPMKVVDMF GCCLPVCAVN FKCLHELVKH
EENGLVFEDS EELAAQLQML FSNFPDPAGK LNQFRKNLRE SQQLRWDESW VQTVLPLVMD
T*
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 1112 / 1112
Last intron/exon boundary 1885
Theoretical NMD boundary in CDS 723
Length of CDS 906
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_1_ENST00000682020

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 180|20 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.28, LOF (oe): 0.95, misssense (oe): 1.13, synonymous (oe): 1.08 ? (gnomAD)
Ensembl transcript ID ENST00000682020.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.593+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MREDLADNWH IRAVTVYDKP ASFFKETPLD LQHRLFMKLG SMHSPFRARS EPEDPVTERS
AFTERDAGSG LVTRLRERPA LLVSSTSWTE DEDFSILLAA LEKFEQLTLD GHNLPSLVCV
ITGKGPLREY YSRLIHQKHF QHIQVCTPWL EAEDYPLLLG SADLGVCLHT SSSGLDLPMK
VVDMFGCCLP VCAVNFKCLH ELVKHEENGL VFEDSEELAA QLQMLFSNFP DPAGKLNQFR
KNLRESQQLR WDESWVQTVL PLVMDT*
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 1068 / 1068
Last intron/exon boundary 1736
Theoretical NMD boundary in CDS 618
Length of CDS 801
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_4_ENST00000588623

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 184|16 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.21, LOF (oe): 0.93, misssense (oe): 1.15, synonymous (oe): 1.09 ? (gnomAD)
Ensembl transcript ID ENST00000588623.5
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.854+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MYLLWKLMWR EPGAYIFLQN PPGLPSIAVC WFVGCLCGSK LVIDWHNYGY SIMGLVHGPN
HPLVLLAKWY EKFFGRLSHL NLCVTNAMRE DLADNWHIRA VTVYDKPASF FKETPLDLQH
RLFMKLGSMH SPFRARSEPE DPVTERSAFT ERDAGSGLVT RLRERPALLV SSTSWTEDED
FSILLAALEK FEQLTLDGHN LPSLVCVITG KGPLREYYSR LIHQKHFQHI QVCTPWLEAE
DYPLLLGSAD LGVCLHTSSS GLDLPMKVVD MFGCCLPVCA VNFKCLHELV KHEENGLVFE
DSEELAAQLQ MLFSNFPDPA GKLNQFRKNL RESQQLRWDE SWVQTVLPLV MDT*
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 1101 / 1101
Last intron/exon boundary 2030
Theoretical NMD boundary in CDS 879
Length of CDS 1062
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_7_ENST00000683433

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 184|16 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.29, LOF (oe): 0.93, misssense (oe): 1.10, synonymous (oe): 1.00 ? (gnomAD)
Ensembl transcript ID ENST00000683433.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.446+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MREDLADNWH ISSEPEDPVT ERSAFTERDA GSGLVTRLRE RPALLVSSTS WTEFEQLTLD
GHNLPSLVCV ITGKGPLREY YSRLIHQKHF QHIQVCTPWL EAEDYPLLLA GSADLGVCLH
TSSSGLDLPM KVVDMFGCCL PVCAVNFKCL HELVKHEENG LVFEDSEELA AQLQMLFSNF
PDPAGKLNQF RKNLRESQQL RWDESWVQTV LPLVMDT*
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 1068 / 1068
Last intron/exon boundary 1589
Theoretical NMD boundary in CDS 471
Length of CDS 654
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_9_ENST00000544428

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 184|16 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.21, LOF (oe): 0.93, misssense (oe): 1.15, synonymous (oe): 1.09 ? (gnomAD)
Ensembl transcript ID ENST00000544428.1
Genbank transcript ID NM_001330504 (by similarity)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.854+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MYLLWKLMWR EPGAYIFLQN PPGLPSIAVC WFVGCLCGSK LVIDWHNYGY SIMGLVHGPN
HPLVLLAKWY EKFFGRLSHL NLCVTNAMRE DLADNWHIRA VTVYDKPASF FKETPLDLQH
RLFMKLGSMH SPFRARSEPE DPVTERSAFT ERDAGSGLVT RLRERPALLV SSTSWTEDED
FSILLAALEK FEQLTLDGHN LPSLVCVITG KGPLREYYSR LIHQKHFQHI QVCTPWLEAE
DYPLLLGSAD LGVCLHTSSS GLDLPMKVVD MFGCCLPVCA VNFKCLHELV KHEENGLVFE
DSEELAAQLQ MLFSNFPDPA GKLNQFRKNL RESQQLRWDE SWVQTVLPLV MDT*
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 182 / 182
Last intron/exon boundary 1111
Theoretical NMD boundary in CDS 879
Length of CDS 1062
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_10_ENST00000683739

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 184|16 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.21, LOF (oe): 0.93, misssense (oe): 1.15, synonymous (oe): 1.09 ? (gnomAD)
Ensembl transcript ID ENST00000683739.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.854+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MYLLWKLMWR EPGAYIFLQN PPGLPSIAVC WFVGCLCGSK LVIDWHNYGY SIMGLVHGPN
HPLVLLAKWY EKFFGRLSHL NLCVTNAMRE DLADNWHIRA VTVYDKPASF FKETPLDLQH
RLFMKLGSMH SPFRARSEPE DPVTERSAFT ERDAGSGLVT RLRERPALLV SSTSWTEDED
FSILLAALEK FEQLTLDGHN LPSLVCVITG KGPLREYYSR LIHQKHFQHI QVCTPWLEAE
DYPLLLGSAD LGVCLHTSSS GLDLPMKVVD MFGCCLPVCA VNFKCLHELV KHEENGLVFE
DSEELAAQLQ MLFSNFPDPA GKLNQFRKNL RESQQLRWDE SWVQTVLPLV MDT*
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 328 / 328
Last intron/exon boundary 1257
Theoretical NMD boundary in CDS 879
Length of CDS 1062
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_3_ENST00000682327

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 186|14 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.25, LOF (oe): 0.93, misssense (oe): 1.14, synonymous (oe): 1.06 ? (gnomAD)
Ensembl transcript ID ENST00000682327.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.659+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MGLVHGPNHP LVLLAKWYEK FFGRLSHLNL CVTNAMREDL ADNWHIRAVT VYDKPASFFK
ETPLDLQHRL FMKLGSMHSP FRARSEPEDP VTERSAFTER DAGSGLVTRL RERPALLVSS
TSWTEFEQLT LDGHNLPSLV CVITGKGPLR EYYSRLIHQK HFQHIQVCTP WLEAEDYPLL
LGSADLGVCL HTSSSGLDLP MKVVDMFGCC LPVCAVNFKC LHELVKHEEN GLVFEDSEEL
AAQLQMLFSN FPDPAGKLNQ FRKNLRESQQ LRWDESWVQT VLPLVMDT*
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 1112 / 1112
Last intron/exon boundary 1846
Theoretical NMD boundary in CDS 684
Length of CDS 867
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_6_ENST00000684190

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 187|13 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.43, LOF (oe): 1.16, misssense (oe): 1.30, synonymous (oe): 1.30 ? (gnomAD)
Ensembl transcript ID ENST00000684190.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.1148+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MAASCLVLLA LCLLLPLLLL GGWKRWRRGR AARHVVAVVL GDVGRSPRMQ YHALSLAMHG
FSVTLLGFCN SKPHDELLQN NRIQIVGLTE LQSLAVGPRV FQYGVKVVLQ AMYLLWKLMW
REPGAYIFLQ NPPGLPSIAV CWFVGCLCGS KLVIDWHNYG YSIMGLVHGP NHPLVLLAKW
YEKFFGRLSH LNLCVTNAMR EDLADNWHIR AVTVYDKPAS FFKETPLDLQ HRLFMKLGSM
HSPFRARSEP EDPVTERSAF TERDAGSGLV TRLRERPALL VSSTSWTEFE QLTLDGHNLP
SLVCVITGKG PLREYYSRLI HQKHFQHIQV CTPWLEAEDY PLLLGSADLG VCLHTSSSGL
DLPMKVVDMF GCCLPVCAVN FKCLHELVKH EENGLVFEDS EELAAQLQML FSNFPDPAGK
LNQFRKNLRE SQQLRWDESW VQTVLPLVMD T*
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 1268
Theoretical NMD boundary in CDS 1173
Length of CDS 1356
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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

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Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_8_ENST00000262374

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Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 187|13 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.42, LOF (oe): 1.15, misssense (oe): 1.30, synonymous (oe): 1.30 ? (gnomAD)
Ensembl transcript ID ENST00000262374.10
Genbank transcript ID NM_019109 (exact from MANE)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.1187+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MAASCLVLLA LCLLLPLLLL GGWKRWRRGR AARHVVAVVL GDVGRSPRMQ YHALSLAMHG
FSVTLLGFCN SKPHDELLQN NRIQIVGLTE LQSLAVGPRV FQYGVKVVLQ AMYLLWKLMW
REPGAYIFLQ NPPGLPSIAV CWFVGCLCGS KLVIDWHNYG YSIMGLVHGP NHPLVLLAKW
YEKFFGRLSH LNLCVTNAMR EDLADNWHIR AVTVYDKPAS FFKETPLDLQ HRLFMKLGSM
HSPFRARSEP EDPVTERSAF TERDAGSGLV TRLRERPALL VSSTSWTEDE DFSILLAALE
KFEQLTLDGH NLPSLVCVIT GKGPLREYYS RLIHQKHFQH IQVCTPWLEA EDYPLLLGSA
DLGVCLHTSS SGLDLPMKVV DMFGCCLPVC AVNFKCLHEL VKHEENGLVF EDSEELAAQL
QMLFSNFPDP AGKLNQFRKN LRESQQLRWD ESWVQTVLPL VMDT*
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 8 / 8
Last intron/exon boundary 1270
Theoretical NMD boundary in CDS 1212
Length of CDS 1395
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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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Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:5082676A>G_5_ENST00000684335

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Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 188|12 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr16:5082676A>G (GRCh38)
Gene symbol ALG1
Gene constraints LOEUF: 1.50, LOF (oe): 1.21, misssense (oe): 1.30, synonymous (oe): 1.30 ? (gnomAD)
Ensembl transcript ID ENST00000684335.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.1076+3A>G
g.48975A>G
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Congenital disorder of glycosylation
ALG1-congenital disorder of glycosylation
Encephalopathy
ALG1-related disorder
Congenital disorder of glycosylation type I		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs369160589
gnomADhomozygous (G/G)heterozygousallele carriers
0352352
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)5.7641
3.3661
(flanking)2.471
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 3
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 16
Strand 1
Original gDNA sequence snippet TGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTT
Altered gDNA sequence snippet TGCTGTGAACTTCAAGTGGTGGGAGCAGAACCCAAATCCTT
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MAASCLVLLA LCLLLPLLLL GGWKRWRRGR AARHVVAVVL GDVGRSPRMQ YHALSLAMHG
FSVTLLGFCN SKPHDELLQN NRIQIVGLTE LQSLAVGPRV FQYGVKVVLQ AMYLLWKLMW
REPGAYIFLQ NPPGLPSIAV CWFVGCLCGS KLVIDWHNYG YSIMGLVHGP NHPLVLLAKW
YEKFFGRLSH LNLCVTNAMR EDLADNWHIR AVTVYDKPAS FFKETPLDLQ HRLFMKLGSM
HSPFRARSEP EDPVTERSAF TERDAGSGLV TRLRERPALL VSSTSWTEDE DFSILLAALE
KFEQLTLDGH NLPSLVCVIT GSADLGVCLH TSSSGLDLPM KVVDMFGCCL PVCAVNFKCL
HELVKHEENG LVFEDSEELA AQLQMLFSNF PDPAGKLNQF RKNLRESQQL RWDESWVQTV
LPLVMDT*
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 1196
Theoretical NMD boundary in CDS 1101
Length of CDS 1284
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 48975
Chromosomal position 5082676
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