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: ENST00000378610
Querying Taster for transcript #2: ENST00000274695
MT speed 0.04 s - this script 2.422805 s

Transcript summary:

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Yum, tasty mutations...

MutationT@ster 2025

Variant:

6:20649303C>T_1_ENST00000378610

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Prediction:

BenignPermalink

Summary:

  • Model: without_aae
  • Tree vote: 73|127 (del | benign) ?
Analysed issue Analysis result
Variant Chr6:20649303C>T (GRCh38)
Gene symbol CDKAL1
Gene constraints LOEUF: 0.64, LOF (oe): 0.39, misssense (oe): 0.88, synonymous (oe): 0.97 ? (gnomAD)
Ensembl transcript ID ENST00000378610.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.297C>T
g.114847C>T
AA changes no AA changes
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs9350269
gnomADhomozygous (T/T)heterozygousallele carriers
3518381873
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)2.7350.876
-0.1670.674
(flanking)7.7961
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 11
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered No
Chromosome 6
Strand 1
Original gDNA sequence snippet TTTTTAATAGAAAATGCATCCGATGCAGATTTATGGCTCCT
Altered gDNA sequence snippet TTTTTAATAGAAAATGCATCTGATGCAGATTTATGGCTCCT
Original cDNA sequence snippet AAAATTACAGAAAATGCATCCGATGCAGATTTATGGCTCCT
Altered cDNA sequence snippet AAAATTACAGAAAATGCATCTGATGCAGATTTATGGCTCCT
Wildtype AA sequence MPSASCDTLL DDIEDIVSQE DSKPQDRHFV RKDVVPKVRR RNTQKYLQEE ENSPPSDSTI
PGIQKIWIRT WGCSHNNSDG EYMAGQLAAY GYKITENASD ADLWLLNSCT VKNPAEDHFR
NSIKKAQEEN KKIVLAGCVP QAQPRQDYLK GLSIIGVQQI DRVVEVVEET IKGHSVRLLG
QKKDNGRRLG GARLDLPKIR KNPLIEIISI NTGCLNACTY CKTKHARGNL ASYPIDELVD
RAKQSFQEGV CEIWLTSEDT GAYGRDIGTN LPTLLWKLVE VIPEGAMLRL GMTNPPYILE
HLEEMAKILN HPRVYAFLHI PVQSASDSVL MEMKREYCVA DFKRVVDFLK EKVPGITIAT
DIICGFPGET DQDFQETVKL VEEYKFPSLF INQFYPRPGT PAAKMEQVPA QVKKQRTKDL
SRVFHSYSPY DHKIGERQQV LVTEESFDSK FYVAHNQFYE QVLVPKNPAF MGKMVEVDIY
ESGKHFMKGQ PVSDAKVYTP SISKPLAKGE VSGLTKDFRN GLGNQLSSGS HTSAASQCDS
ASSRMVLPMP RLHQDCALRM SVGLALLGLL FAFFVKVYN*
Mutated AA sequence MPSASCDTLL DDIEDIVSQE DSKPQDRHFV RKDVVPKVRR RNTQKYLQEE ENSPPSDSTI
PGIQKIWIRT WGCSHNNSDG EYMAGQLAAY GYKITENASD ADLWLLNSCT VKNPAEDHFR
NSIKKAQEEN KKIVLAGCVP QAQPRQDYLK GLSIIGVQQI DRVVEVVEET IKGHSVRLLG
QKKDNGRRLG GARLDLPKIR KNPLIEIISI NTGCLNACTY CKTKHARGNL ASYPIDELVD
RAKQSFQEGV CEIWLTSEDT GAYGRDIGTN LPTLLWKLVE VIPEGAMLRL GMTNPPYILE
HLEEMAKILN HPRVYAFLHI PVQSASDSVL MEMKREYCVA DFKRVVDFLK EKVPGITIAT
DIICGFPGET DQDFQETVKL VEEYKFPSLF INQFYPRPGT PAAKMEQVPA QVKKQRTKDL
SRVFHSYSPY DHKIGERQQV LVTEESFDSK FYVAHNQFYE QVLVPKNPAF MGKMVEVDIY
ESGKHFMKGQ PVSDAKVYTP SISKPLAKGE VSGLTKDFRN GLGNQLSSGS HTSAASQCDS
ASSRMVLPMP RLHQDCALRM SVGLALLGLL FAFFVKVYN*
Position of stopcodon in wt / mu CDS 1740 / 1740
Position (AA) of stopcodon in wt / mu AA sequence 580 / 580
Position of stopcodon in wt / mu cDNA 1750 / 1750
Position of start ATG in wt / mu cDNA 11 / 11
Last intron/exon boundary 1558
Theoretical NMD boundary in CDS 1497
Length of CDS 1740
Coding sequence (CDS) position 297
cDNA position 307
gDNA position 114847
Chromosomal position 20649303
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:

6:20649303C>T_2_ENST00000274695

Back to summary table

Prediction:

BenignPermalink

Summary:

  • Model: without_aae
  • Tree vote: 73|127 (del | benign) ?
Analysed issue Analysis result
Variant Chr6:20649303C>T (GRCh38)
Gene symbol CDKAL1
Gene constraints LOEUF: 0.64, LOF (oe): 0.39, misssense (oe): 0.88, synonymous (oe): 0.97 ? (gnomAD)
Ensembl transcript ID ENST00000274695.8
Genbank transcript ID NM_017774 (exact from MANE)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.297C>T
g.114847C>T
AA changes no AA changes
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
dbSNP IDrs9350269
gnomADhomozygous (T/T)heterozygousallele carriers
3518381873
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)2.7350.876
-0.1670.674
(flanking)7.7961
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 11
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered No
Chromosome 6
Strand 1
Original gDNA sequence snippet TTTTTAATAGAAAATGCATCCGATGCAGATTTATGGCTCCT
Altered gDNA sequence snippet TTTTTAATAGAAAATGCATCTGATGCAGATTTATGGCTCCT
Original cDNA sequence snippet AAAATTACAGAAAATGCATCCGATGCAGATTTATGGCTCCT
Altered cDNA sequence snippet AAAATTACAGAAAATGCATCTGATGCAGATTTATGGCTCCT
Wildtype AA sequence MPSASCDTLL DDIEDIVSQE DSKPQDRHFV RKDVVPKVRR RNTQKYLQEE ENSPPSDSTI
PGIQKIWIRT WGCSHNNSDG EYMAGQLAAY GYKITENASD ADLWLLNSCT VKNPAEDHFR
NSIKKAQEEN KKIVLAGCVP QAQPRQDYLK GLSIIGVQQI DRVVEVVEET IKGHSVRLLG
QKKDNGRRLG GARLDLPKIR KNPLIEIISI NTGCLNACTY CKTKHARGNL ASYPIDELVD
RAKQSFQEGV CEIWLTSEDT GAYGRDIGTN LPTLLWKLVE VIPEGAMLRL GMTNPPYILE
HLEEMAKILN HPRVYAFLHI PVQSASDSVL MEMKREYCVA DFKRVVDFLK EKVPGITIAT
DIICGFPGET DQDFQETVKL VEEYKFPSLF INQFYPRPGT PAAKMEQVPA QVKKQRTKDL
SRVFHSYSPY DHKIGERQQV LVTEESFDSK FYVAHNQFYE QVLVPKNPAF MGKMVEVDIY
ESGKHFMKGQ PVSDAKVYTP SISKPLAKGE VSGLTKDFRN GLGNQLSSGS HTSAASQCDS
ASSRMVLPMP RLHQDCALRM SVGLALLGLL FAFFVKVYN*
Mutated AA sequence MPSASCDTLL DDIEDIVSQE DSKPQDRHFV RKDVVPKVRR RNTQKYLQEE ENSPPSDSTI
PGIQKIWIRT WGCSHNNSDG EYMAGQLAAY GYKITENASD ADLWLLNSCT VKNPAEDHFR
NSIKKAQEEN KKIVLAGCVP QAQPRQDYLK GLSIIGVQQI DRVVEVVEET IKGHSVRLLG
QKKDNGRRLG GARLDLPKIR KNPLIEIISI NTGCLNACTY CKTKHARGNL ASYPIDELVD
RAKQSFQEGV CEIWLTSEDT GAYGRDIGTN LPTLLWKLVE VIPEGAMLRL GMTNPPYILE
HLEEMAKILN HPRVYAFLHI PVQSASDSVL MEMKREYCVA DFKRVVDFLK EKVPGITIAT
DIICGFPGET DQDFQETVKL VEEYKFPSLF INQFYPRPGT PAAKMEQVPA QVKKQRTKDL
SRVFHSYSPY DHKIGERQQV LVTEESFDSK FYVAHNQFYE QVLVPKNPAF MGKMVEVDIY
ESGKHFMKGQ PVSDAKVYTP SISKPLAKGE VSGLTKDFRN GLGNQLSSGS HTSAASQCDS
ASSRMVLPMP RLHQDCALRM SVGLALLGLL FAFFVKVYN*
Position of stopcodon in wt / mu CDS 1740 / 1740
Position (AA) of stopcodon in wt / mu AA sequence 580 / 580
Position of stopcodon in wt / mu cDNA 1907 / 1907
Position of start ATG in wt / mu cDNA 168 / 168
Last intron/exon boundary 1715
Theoretical NMD boundary in CDS 1497
Length of CDS 1740
Coding sequence (CDS) position 297
cDNA position 464
gDNA position 114847
Chromosomal position 20649303
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