A0A6Q8PFD1 · A0A6Q8PFD1_HUMAN

  • Protein
    ribose-phosphate diphosphokinase
  • Gene
    PRPS1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

197102030405060708090
XVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKPGANLSQACCKYAICSRCRSYYHHGPTCFSNSGLF
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
RCV004556094
rs2147681381
3E>K
Arts syndrome (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002034013
rs2147681393
8V>A
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs19255210319R>HgnomAD
RCV001912928
rs2147681403
10G>E
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002269742
rs2147681410
14Y>HVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV100978848
rs773719662
22E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
RCV001924777
rs2147681443
24N>D
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs192552190227L>FEnsembl
RCV001752746
rs2147681453
29E>KVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV65054277
RCV001765056
rs2147681457
34I>VVariant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
RCV001752585
rs2147681459
35N>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA10577651
RCV000217138
RCV000654845
rs876661263
43S>C
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
VAR_036941
CA340958
RCV000010612
rs80338731
43E>D
CMTX5 (UniProt)
Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs76724359543S>IExAC
TOPMed
gnomAD
RCV001576926
RCV001866068
rs2147681484
44R>W
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs214768150651C>S1000Genomes
RCV000805354
TCGA novel
rs1602900770
51C>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
VAR_016044
CA254937
RCV000010608
rs137852542
52D>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
COSV65054296
RCV001584942
RCV002573283
rs2147681509
56R>Q
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
CA413805796
RCV000523068
rs1556299580
61D>NVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001954225
rs2147682369
65A>D
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
VAR_063522
CA254945
RCV000010616
rs180177151
65D>N
DFNX1 (UniProt)
Hearing loss, X-linked 1 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs76845504865A>TLikely benign (Ensembl)ExAC
TOPMed
gnomAD
CA10584629
RCV000235705
RCV001319152
rs879253919
66N>S
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV002251828
rs2147682370
71C>SVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001870272
RCV002489973
rs2147682370
71C>Y
Arts syndrome (ClinVar)
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA270656
RCV000143857
rs587781261
72C>F
Hearing loss, X-linked 1 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs8033867472C>RLikely benign (Ensembl)Ensembl
CA270659
RCV000143858
RCV000143859
rs587781262
74Y>C
Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar)
Hearing loss, X-linked 1 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001761357
rs2147682395
75A>GVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs77438272076I>LLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs77438272076I>VLikely benign (Ensembl)ExAC
TOPMed
gnomAD
RCV000990923
rs1602901832
79R>S
Phosphoribosylpyrophosphate synthetase superactivity (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA267604
RCV000087131
rs587777150
80C>W
Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
CA10584630
RCV000236738
rs879253970
80C>YLikely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV002275731
rs2147682403
82S>*
Arts syndrome (ClinVar)
ClinVar
Ensembl
dbSNP
VAR_063523
CA254947
COSV65054574
RCV000010617
RCV001851782
rs180177152
87A>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
rs192556133191F>VTOPMed
VAR_016045
CA254939
RCV000010609
rs137852543
129L>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
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