B1ALA9 · B1ALA9_HUMAN

  • Protein
    Ribose-phosphate pyrophosphokinase 1
  • Gene
    PRPS1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

128520406080100120140160180200220240260280
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs9446850552P>LEnsembl
COSV1074687482P>Qcosmic curated
COSV650548872P>Scosmic curated
COSV1009789148S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65055042
COSV65055123
8S>Rcosmic curated
RCV000995994
rs1602893221
9G>RLikely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs76345397610S>RExAC
gnomAD
COSV6505516611S>Pcosmic curated
COSV10097891013Q>Kcosmic curated
CA413799909
RCV000590944
rs1556297584
16S>F
Retinal dystrophy (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
VAR_072719
CA352184
RCV000208733
rs869025594
16S>P
found in patients with phosphoribosyl pyrophosphate synthetase I deficiency; likely pathogenic (UniProt)
Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar)
Pathogenic (Ensembl, ClinVar)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
COSV6505530916S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10097892221D>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV6505513030V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs142012106031V>LgnomAD
rs156943681732T>AEnsembl
rs78095468036S>TExAC
gnomAD
COSV10529799638Q>Lcosmic curated
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
RCV004556094
rs2147681381
43E>K
Arts syndrome (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002034013
rs2147681393
48V>A
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs192552103149R>HgnomAD
RCV001912928
rs2147681403
50G>E
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV10097888351E>Kcosmic curated
COSV100978868
COSV100978883
51E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV6505461051E>Vcosmic curated
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
RCV002269742
rs2147681410
54Y>HVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV100978848
rs773719662
62E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
RCV001924777
rs2147681443
64N>D
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV10097890264N>Kcosmic curated
VAR_063522
CA254945
RCV000010616
rs180177151
65D>N
DFNX1 (UniProt)
Hearing loss, X-linked 1 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
COSV6505425365D>Ycosmic curated
rs192552190267L>FEnsembl
COSV10822024967L>Vcosmic curated
RCV001752746
rs2147681453
69E>KVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV6505451971L>Fcosmic curated
COSV6505452573M>Icosmic curated
COSV65054277
RCV001765056
rs2147681457
74I>VVariant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
RCV001752585
rs2147681459
75N>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV6505424982A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA10577651
RCV000217138
RCV000654845
rs876661263
83S>C
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs76724359583S>IExAC
TOPMed
gnomAD
RCV001576926
RCV001866068
rs2147681484
84R>W
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV10097889085V>Acosmic curated
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
rs214768150691C>S1000Genomes
RCV000805354
TCGA novel
rs1602900770
91C>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
COSV10529798694Y>*cosmic curated
COSV10097883795A>Vcosmic curated
COSV65054296
RCV001584942
RCV002573283
rs2147681509
96R>Q
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
COSV6505425896R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA413805796
RCV000523068
rs1556299580
101D>NVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
COSV65054251101D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100978875105F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65054549106D>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV000984484
rs1602902855
108P>L
Arts syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV100978897108P>Qcosmic curated
COSV100978874108P>Tcosmic curated
CA259726
RCV000022882
rs398122855
109V>L
Arts syndrome (ClinVar)
Arts syndrome (arts) (Ensembl)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
COSV65054256111N>Kcosmic curated
COSV65054421111N>Scosmic curated
RCV000995614
TCGA novel
rs768454424
112L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Phosphoribosylpyrophosphate synthetase superactivity (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
NCI-TCGA
ExAC
dbSNP
gnomAD
COSV65054302116P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV108220356121W>*cosmic curated
COSV65054313121W>Lcosmic curated
COSV100978838123R>Mcosmic curated
COSV108220362124E>Dcosmic curated
rs1925594653126I>TTOPMed
COSV100978889129W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65054441130R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
RCV001809108
RCV001869593
rs888601981
133T>I
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Phosphoribosylpyrophosphate synthetase superactivity (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs759133840134I>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV100978891137P>Hcosmic curated
RCV001212370
rs1925595833
137P>S
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001994046
rs2147683220
138D>Y
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV108220244139A>Vcosmic curated
COSV105922720141G>Ecosmic curated
COSV65054237141G>Rcosmic curated
COSV65054710143K>Ecosmic curated
COSV104681283144R>Scosmic curated
COSV65054659146T>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65054168147S>Pcosmic curated
COSV100978871147S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
VAR_036944
COSV100978869
CA245212
RCV000010614
RCV000178182
rs80338676
152L>P
ARTS (UniProt)
Arts syndrome (ClinVar)
Arts syndrome (arts) (Ensembl)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
cosmic curated
ClinGen
ClinVar
Ensembl
dbSNP
COSV104681280157A>Tcosmic curated
VAR_016046
CA254941
CM952243
COSV105922714
RCV000010610
rs137852544
157A>V
PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP (UniProt)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Phosphoribosylpyrophosphate synthetase superactivity (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA)UniProt
ClinGen
NCI-TCGA
cosmic curated
ClinVar
Ensembl
dbSNP
rs1925665557162E>KEnsembl
COSV65054190
RCV001905384
rs2147684782
163R>Q
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
CA413811807
COSV104423748
RCV000590871
RCV001857876
RCV002466527
rs1556300610
163R>W
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Retinal dystrophy (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
COSV65054650164K>Ncosmic curated
COSV65054583166A>Scosmic curated
rs1424174127167N>STOPMed
COSV105297987168E>Kcosmic curated
COSV65054359169V>Mcosmic curated
COSV65054716170D>Hcosmic curated
COSV65054244
RCV001047338
rs1925666328
171R>C
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
RCV001367011
RCV002493873
rs1169615098
171R>H
Arts syndrome (ClinVar)
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
COSV65054566171R>Lcosmic curated
COSV100978866172M>Icosmic curated
CA413812315
RCV000590950
rs867288458
181R>P
Retinal dystrophy (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
COSV65054268
RCV001775331
RCV001822002
RCV002541044
rs867288458
181R>Q
Arts syndrome (ClinVar)
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Likely pathogenic (Ensembl)cosmic curated
ClinVar
TOPMed
dbSNP
CA413812308
RCV000590916
RCV001075877
RCV001196872
RCV001542719
RCV001865690
rs1556300621
181R>W
Arts syndrome (ClinVar)
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Phosphoribosylpyrophosphate synthetase superactivity (ClinVar)
Retinal dystrophy (ClinVar)
Pathogenic (ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs905676241182V>MEnsembl
VAR_004164
CA254935
RCV000010607
RCV003147280
rs137852541
183D>H
PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP (UniProt)
Arts syndrome (ClinVar)
Phosphoribosylpyrophosphate synthetase superactivity (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
COSV100978830185L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65054735186V>Gcosmic curated
COSV65054286188D>Gcosmic curated
RCV001902270
rs2147684832
191D>G
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV002048412
rs2147684835
192T>A
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
VAR_016047
CA254943
RCV000010611
rs137852545
193H>Q
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
rs769401404194G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
COSV65054495198H>Dcosmic curated
COSV65054726199A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs200877295200A>PEnsembl
COSV100978857204L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105297988205S>Lcosmic curated
COSV100978886206A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100978892
RCV001816551
rs2147686021
207G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
COSV65054243208A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65054127209T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100978898213A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65054263214I>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100978894218G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65054535
COSV65054656
222G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV65054535
COSV65054656
rs1423101228
222G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
RCV001931002
rs2147686040
224A>T
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA413814641
RCV000494382
RCV001359465
rs1131691495
227R>H
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs1460511404228I>VTOPMed
rs745426742229N>HExAC
gnomAD
rs921320056229N>SVariant of uncertain significance (Ensembl)Ensembl
COSV65054511
rs1925732117
231A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
COSV65054246233F>Scosmic curated
rs1241819619236V>IVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001921971
rs1241819619
236V>L
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs1925732796239T>IEnsembl
COSV100978864240N>Scosmic curated
rs1263272628242I>VTOPMed
gnomAD
RCV001075223
rs1925733148
243P>L
Retinal dystrophy (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV100978899243P>Scosmic curated
rs2147686093244Q>*Variant of uncertain significance (Ensembl)Ensembl
RCV001889969
rs2147686093
244Q>E
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA352190
RCV000208721
RCV000208743
rs869025593
244Q>P
Arts syndrome (ClinVar)
Arts syndrome (arts) (Ensembl)
Hearing loss, X-linked 1 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
COSV65054172247K>Rcosmic curated
COSV65054546248M>Icosmic curated
RCV001334081
rs1925733763
248M>R
Arts syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1925734292254I>LTOPMed
RCV001406555
rs1229690158
257I>V
Charcot-Marie-Tooth Neuropathy X (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV104681286263L>Fcosmic curated
rs867662574264A>TEnsembl
rs763915105267I>TExAC
COSV105297993268R>Kcosmic curated
COSV100978845269R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs751468763272N>KExAC
gnomAD
COSV65054436273G>Vcosmic curated
CA270662
RCV000143860
rs587781263
276V>F
Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
COSV65054425279L>Vcosmic curated
COSV65054569283V>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104681281283V>Lcosmic curated
VAR_063524
CA254951
RCV000010619
rs180177153
290I>T
DFNX1 (UniProt)
Hearing loss, X-linked 1 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_063525
CA254949
RCV000010618
rs180177154
306G>R
DFNX1 (UniProt)
Hearing loss, X-linked 1 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
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