Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000316084(MANE Select) | RPS4X | Benign | 0|200 | without_ | No | Single base exchange | N/A |
|
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 |
| |||||||||||||
Protein conservation | N/A | |||||||||||||
Protein features | N/A | |||||||||||||
Phylogenetic conservation |
| |||||||||||||
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