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: ENST00000316084
MT speed 0.03 s - this script 2.43197 s

Transcript summary:

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Yum, tasty mutations...

MutationT@ster 2025

Variant:

23:72275731C>A_1_ENST00000316084

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Prediction:

BenignPermalink

Summary:

  • Model: without_aae
  • Tree vote: 0|200 (del | benign) ?
  • Automatic classification due to gnomAD
  • no values for phylogenetic conservation
Analysed issue Analysis result
Variant ChrX:72275731C>A (GRCh38)
Gene symbol RPS4X
Gene constraints no data
Ensembl transcript ID ENST00000316084.10
Genbank transcript ID NM_001007 (exact from MANE)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.82-7G>T
g.1518G>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 IDrs369740837
gnomADhomo-/hemizygous (A/A)heterozygousallele carriers
3416921033
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 23
Strand -1
Original gDNA sequence snippet CAGTGATTATCATTTTTAACGTTACAGGCTCCTCGTCCATC
Altered gDNA sequence snippet CAGTGATTATCATTTTTAACTTTACAGGCTCCTCGTCCATC
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MARGPKKHLK RVAAPKHWML DKLTGVFAPR PSTGPHKLRE CLPLIIFLRN RLKYALTGDE
VKKICMQRFI KIDGKVRTDI TYPAGFMDVI SIDKTGENFR LIYDTKGRFA VHRITPEEAK
YKLCKVRKIF VGTKGIPHLV THDARTIRYP DPLIKVNDTI QIDLETGKIT DFIKFDTGNL
CMVTGGANLG RIGVITNRER HPGSFDVVHV KDANGNSFAT RLSNIFVIGK GNKPWISLPR
GKGIRLTIAE ERDKRLAAKQ SSG*
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 54 / 54
Last intron/exon boundary 743
Theoretical NMD boundary in CDS 639
Length of CDS 792
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 1518
Chromosomal position 72275731
Speed 0.03 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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