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MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000331825
MT speed 0.01 s - this script 2.419758 s

Transcript summary:

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TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
ENST00000331825(MANE Select)
FTLDeleterious100|05utrNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 963917 (pathogenic)
Yum, tasty mutations...

MutationT@ster 2025

Variant:

19:48965341C>T_1_ENST00000331825

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Prediction:

DeleteriousPermalink

Summary:

  • Model: 5utr
  • Tree vote: 100|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr19:48965341C>T (GRCh38)
Gene symbol FTL
Gene constraints LOEUF: 1.55, LOF (oe): 1.03, misssense (oe): 0.79, synonymous (oe): 0.79 ? (gnomAD)
Ensembl transcript ID ENST00000331825.11
Genbank transcript ID NM_000146 (exact from MANE)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region 5'UTR
DNA changes cDNA.33C>T
g.33C>T
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Hereditary hyperferritinemia with congenital cataracts
Neuroferritinopathy		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs2038438402
Allele 'T' was not found in gnomAD
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)9.5311
7.5481
(flanking)3.1111
?
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 N/A
Chromosome 19
Strand 1
Original gDNA sequence snippet TCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGA
Altered gDNA sequence snippet TCCCGCGGGTCTGTCTCTTGTTTCAACAGTGTTTGGACGGA
Original cDNA sequence snippet TCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGA
Altered cDNA sequence snippet TCCCGCGGGTCTGTCTCTTGTTTCAACAGTGTTTGGACGGA
Wildtype AA sequence MSSQIRQNYS TDVEAAVNSL VNLYLQASYT YLSLGFYFDR DDVALEGVSH FFRELAEEKR
EGYERLLKMQ NQRGGRALFQ DIKKPAEDEW GKTPDAMKAA MALEKKLNQA LLDLHALGSA
RTDPHLCDFL ETHFLDEEVK LIKKMGDHLT NLHRLGGPEA GLGEYLFERL TLKHD*
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 200 / 200
Last intron/exon boundary 574
Theoretical NMD boundary in CDS 324
Length of CDS 528
Coding sequence (CDS) position N/A
cDNA position 33
gDNA position 33
Chromosomal position 48965341
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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