A0A6Q8PFD1 · A0A6Q8PFD1_HUMAN
- Proteinribose-phosphate diphosphokinase
- GenePRPS1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
RCV004556094 rs2147681381 | 3 | E>K | Arts syndrome (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639299G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639299G>A Locations: - p.Glu3Lys (Ensembl:ENST00000675720) - c.7G>A (Ensembl:ENST00000675720) Disease association: - Arts syndrome (ARTS) Source type: large scale study | |||||||
RCV002034013 rs2147681393 | 8 | V>A | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639315T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639315T>C Locations: - p.Val8Ala (Ensembl:ENST00000675720) - c.23T>C (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
rs1925521031 | 9 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.603) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639318G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639318G>A Locations: - p.Arg9His (Ensembl:ENST00000675720) - c.26G>A (Ensembl:ENST00000675720) Source type: large scale study Cross-references: | |||||||
RCV001912928 rs2147681403 | 10 | G>E | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639321G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639321G>A Locations: - p.Gly10Glu (Ensembl:ENST00000675720) - c.29G>A (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
RCV002269742 rs2147681410 | 14 | Y>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639332T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639332T>C Locations: - p.Tyr14His (Ensembl:ENST00000675720) - c.40T>C (Ensembl:ENST00000675720) Source type: large scale study | |||||||
COSV100978848 rs773719662 | 22 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000545 (gnomAD) Accession: NC_000023.11:g.107639356G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639356G>A Locations: - p.E22K (NCI-TCGA:ENST00000675720) - p.Glu22Lys (Ensembl:ENST00000675720) - c.64G>A (Ensembl:ENST00000675720) Source type: large scale study | |||||||
RCV001924777 rs2147681443 | 24 | N>D | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.534) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639362A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639362A>G Locations: - p.Asn24Asp (Ensembl:ENST00000675720) - c.70A>G (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
rs1925521902 | 27 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639373A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639373A>C Locations: - p.Leu27Phe (Ensembl:ENST00000675720) - c.81A>C (Ensembl:ENST00000675720) Source type: large scale study Cross-references: | |||||||
RCV001752746 rs2147681453 | 29 | E>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639377G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639377G>A Locations: - p.Glu29Lys (Ensembl:ENST00000675720) - c.85G>A (Ensembl:ENST00000675720) Source type: large scale study | |||||||
COSV65054277 RCV001765056 rs2147681457 | 34 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000023.11:g.107639392A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639392A>G Locations: - p.Ile34Val (Ensembl:ENST00000675720) - c.100A>G (Ensembl:ENST00000675720) Source type: large scale study Cross-references: | |||||||
RCV001752585 rs2147681459 | 35 | N>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639396A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639396A>C Locations: - p.Asn35Thr (Ensembl:ENST00000675720) - c.104A>C (Ensembl:ENST00000675720) Source type: large scale study | |||||||
CA10577651 RCV000217138 RCV000654845 rs876661263 | 43 | S>C | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639419A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639419A>T Locations: - p.Ser43Cys (Ensembl:ENST00000675720) - c.127A>T (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
VAR_036941 CA340958 RCV000010612 rs80338731 | 43 | E>D | CMTX5 (UniProt) Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107639301A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639301A>C Locations: - p.Glu43Asp (UniProt:P60891) - p.Glu3Asp (Ensembl:ENST00000675720) - c.9A>C (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth disease X-linked recessive 5 - Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) Source type: mixed Cross-references: | |||||||
rs767243595 | 43 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639420G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639420G>T Locations: - p.Ser43Ile (Ensembl:ENST00000675720) - c.128G>T (Ensembl:ENST00000675720) Source type: large scale study | |||||||
RCV001576926 RCV001866068 rs2147681484 | 44 | R>W | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639422C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639422C>T Locations: - p.Arg44Trp (Ensembl:ENST00000675720) - c.130C>T (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
rs2147681506 | 51 | C>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639443T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639443T>A Locations: - p.Cys51Ser (Ensembl:ENST00000675720) - c.151T>A (Ensembl:ENST00000675720) Source type: large scale study Cross-references: | |||||||
RCV000805354 TCGA novel rs1602900770 | 51 | C>Y | Charcot-Marie-Tooth Neuropathy X (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar NCI-TCGA Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639444G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639444G>A Locations: - p.C51Y (NCI-TCGA:ENST00000675720) - p.Cys51Tyr (Ensembl:ENST00000675720) - c.152G>A (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
VAR_016044 CA254937 RCV000010608 rs137852542 | 52 | D>H | PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP (UniProt) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107639326G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639326G>C Locations: - p.Asp52His (UniProt:P60891) - p.Asp12His (Ensembl:ENST00000675720) - c.34G>C (Ensembl:ENST00000675720) Disease association: - Phosphoribosylpyrophosphate synthetase superactivity - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) Source type: mixed Cross-references: | |||||||
COSV65054296 RCV001584942 RCV002573283 rs2147681509 | 56 | R>Q | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000023.11:g.107639459G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639459G>A Locations: - p.Arg56Gln (Ensembl:ENST00000675720) - c.167G>A (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
CA413805796 RCV000523068 rs1556299580 | 61 | D>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639473G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639473G>A Locations: - p.Asp61Asn (Ensembl:ENST00000675720) - c.181G>A (Ensembl:ENST00000675720) Source type: large scale study Cross-references: | |||||||
RCV001954225 rs2147682369 | 65 | A>D | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107640911C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640911C>A Locations: - p.Ala65Asp (Ensembl:ENST00000675720) - c.194C>A (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
VAR_063522 CA254945 RCV000010616 rs180177151 | 65 | D>N | DFNX1 (UniProt) Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107639365G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639365G>A Locations: - p.Asp65Asn (UniProt:P60891) - p.Asp25Asn (Ensembl:ENST00000675720) - c.73G>A (Ensembl:ENST00000675720) Disease association: - Deafness, X-linked, 1 (DFNX1) - Hearing loss, X-linked 1 Source type: mixed Cross-references: | |||||||
rs768455048 | 65 | A>T | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107640910G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640910G>A Locations: - p.Ala65Thr (Ensembl:ENST00000675720) - c.193G>A (Ensembl:ENST00000675720) Source type: large scale study | |||||||
CA10584629 RCV000235705 RCV001319152 rs879253919 | 66 | N>S | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000023.11:g.107640914A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640914A>G Locations: - p.Asn66Ser (Ensembl:ENST00000675720) - c.197A>G (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
RCV002251828 rs2147682370 | 71 | C>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.58) Somatic: No Accession: NC_000023.11:g.107640929G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640929G>C Locations: - p.Cys71Ser (Ensembl:ENST00000675720) - c.212G>C (Ensembl:ENST00000675720) Source type: large scale study | |||||||
RCV001870272 RCV002489973 rs2147682370 | 71 | C>Y | Arts syndrome (ClinVar) Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000023.11:g.107640929G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640929G>A Locations: - p.Cys71Tyr (Ensembl:ENST00000675720) - c.212G>A (Ensembl:ENST00000675720) Disease association: - Arts syndrome (ARTS) - Charcot-Marie-Tooth Neuropathy X - Charcot-Marie-Tooth disease X-linked recessive 5 - Hearing loss, X-linked 1 - Phosphoribosylpyrophosphate synthetase superactivity Source type: large scale study Cross-references: | |||||||
CA270656 RCV000143857 rs587781261 | 72 | C>F | Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000023.11:g.107640932G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640932G>T Locations: - p.Cys72Phe (Ensembl:ENST00000675720) - c.215G>T (Ensembl:ENST00000675720) Disease association: - Hearing loss, X-linked 1 Source type: large scale study Cross-references: | |||||||
rs80338674 | 72 | C>R | Likely benign (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000023.11:g.107640931T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640931T>C Locations: - p.Cys72Arg (Ensembl:ENST00000675720) - c.214T>C (Ensembl:ENST00000675720) Source type: large scale study Cross-references: | |||||||
CA270659 RCV000143858 RCV000143859 rs587781262 | 74 | Y>C | Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar) Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000023.11:g.107640938A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640938A>G Locations: - p.Tyr74Cys (Ensembl:ENST00000675720) - c.221A>G (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth disease X-linked recessive 5 - Hearing loss, X-linked 1 Source type: large scale study Cross-references: | |||||||
RCV001761357 rs2147682395 | 75 | A>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.68) Somatic: No Accession: NC_000023.11:g.107640941C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640941C>G Locations: - p.Ala75Gly (Ensembl:ENST00000675720) - c.224C>G (Ensembl:ENST00000675720) Source type: large scale study | |||||||
rs774382720 | 76 | I>L | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000023.11:g.107640943A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640943A>C Locations: - p.Ile76Leu (Ensembl:ENST00000675720) - c.226A>C (Ensembl:ENST00000675720) Source type: large scale study | |||||||
rs774382720 | 76 | I>V | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000023.11:g.107640943A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640943A>G Locations: - p.Ile76Val (Ensembl:ENST00000675720) - c.226A>G (Ensembl:ENST00000675720) Source type: large scale study | |||||||
RCV000990923 rs1602901832 | 79 | R>S | Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000023.11:g.107640954G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640954G>T Locations: - p.Arg79Ser (Ensembl:ENST00000675720) - c.237G>T (Ensembl:ENST00000675720) Disease association: - Phosphoribosylpyrophosphate synthetase superactivity Source type: large scale study | |||||||
CA267604 RCV000087131 rs587777150 | 80 | C>W | Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000023.11:g.107640957C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640957C>G Locations: - p.Cys80Trp (Ensembl:ENST00000675720) - c.240C>G (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth disease X-linked recessive 5 Source type: large scale study Cross-references: | |||||||
CA10584630 RCV000236738 rs879253970 | 80 | C>Y | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000023.11:g.107640956G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640956G>A Locations: - p.Cys80Tyr (Ensembl:ENST00000675720) - c.239G>A (Ensembl:ENST00000675720) Source type: large scale study Cross-references: | |||||||
RCV002275731 rs2147682403 | 82 | S>* | Arts syndrome (ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107640962C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640962C>G Locations: - p.Ser82Ter (Ensembl:ENST00000675720) - c.245C>G (Ensembl:ENST00000675720) Disease association: - Arts syndrome (ARTS) Source type: large scale study | |||||||
VAR_063523 CA254947 COSV65054574 RCV000010617 RCV001851782 rs180177152 | 87 | A>T | DFNX1 (UniProt) Charcot-Marie-Tooth Neuropathy X (ClinVar) Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639431G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639431G>A Locations: - p.Ala87Thr (UniProt:P60891) - p.Ala47Thr (Ensembl:ENST00000675720) - c.139G>A (Ensembl:ENST00000675720) Disease association: - Charcot-Marie-Tooth Neuropathy X - Deafness, X-linked, 1 (DFNX1) - Hearing loss, X-linked 1 Source type: mixed | |||||||
rs1925561331 | 91 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107640988T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640988T>G Locations: - p.Phe91Val (Ensembl:ENST00000675720) - c.271T>G (Ensembl:ENST00000675720) Source type: large scale study Cross-references: | |||||||
VAR_016045 CA254939 RCV000010609 rs137852543 | 129 | L>I | PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP (UniProt) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107640980C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107640980C>A Locations: - p.Leu129Ile (UniProt:P60891) - p.Pro88His (Ensembl:ENST00000675720) - c.263C>A (Ensembl:ENST00000675720) Disease association: - Phosphoribosylpyrophosphate synthetase superactivity - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) Source type: mixed Cross-references: |