Yum, tasty mutations...

MutationT@ster 2025

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Querying Taster for transcript #1: ENST00000572173
MT speed 0.02 s - this script 2.375254 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
RMI2Benign0|200without_aaeNoSingle base exchangeN/A
  • Homozygous in gnomAD
Yum, tasty mutations...

MutationT@ster 2025

Variant:

16:11271643C>T_1_ENST00000572173

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Prediction:

BenignPermalink

Summary:

  • Model: without_aae
  • Tree vote: 0|200 (del | benign) ?
  • Automatic classification due to gnomAD
Analysed issue Analysis result
Variant Chr16:11271643C>T (GRCh38)
Gene symbol RMI2
Gene constraints LOEUF: 1.91, LOF (oe): 1.36, misssense (oe): 1.00, synonymous (oe): 1.18 ? (gnomAD)
Ensembl transcript ID ENST00000572173.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.-516+21865C>T
g.22025C>T
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 IDrs367569
gnomADhomozygous (T/T)heterozygousallele carriers
7907>32000>32000
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)0.2920.003
0.0170.001
(flanking)0.4950.001
?
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 16
Strand 1
Original gDNA sequence snippet TTGTGGGGTATATGCTAGACCAAGCCGTGAAGACTCTCTGG
Altered gDNA sequence snippet TTGTGGGGTATATGCTAGACTAAGCCGTGAAGACTCTCTGG
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MKQTQVGSLF SLGIRNPEPG PVSGTAVPRQ LAWKSGKYVM VMGVVQACSP EPCLQAVKMT
DLSDNPIHES MWELEVEDLH RNIP*
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 646 / 646
Last intron/exon boundary 751
Theoretical NMD boundary in CDS 55
Length of CDS 255
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 22025
Chromosomal position 11271643
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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