Transcript #00025255

Transcript name transcript variant 1
Gene name PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
Chromosome X
Transcript - NCBI ID NM_002764.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002755.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 1 c.46T>C r.(?) p.(Ser16Pro)
+/+ 2 c.129A>C r.(?) p.(Glu43Asp)
+/. 2 c.129A>C r.(?) p.(Glu43Asp)
+/. - c.129A>C r.(?) p.(Glu43Asp)
?/. - c.136G>C r.(?) p.(Glu46Gln)
+/+ 2 c.154G>C r.(?) p.(Asp52His)
+/. 2 c.154G>C r.(?) p.(Asp52His)
+/+ 2 c.193G>A r.(?) p.(Asp65Asn)
+/. 2 c.193G>A r.(?) p.(Asp65Asn)
+/. 2 c.202A>T r.(?) p.(Met68Leu)
+?/. - c.206A>C r.(?) p.(Glu69Ala)
+/+ 2 c.259G>A r.(?) p.(Ala87Thr)
+/. 2 c.259G>A r.(?) p.(Ala87Thr)
?/. - c.287G>A r.(?) p.(Arg96Gln)
?/. - c.334G>C r.(?) p.(Val112Leu)
-/- 3 c.336T>C r.(=) p.(=)
+/+ 3 c.337G>T r.(?) p.(Ala113Ser)
+/. 3 c.337G>T r.(?) p.(Ala113Ser)
+/+ 3 c.341A>G r.(?) p.(Asn114Ser)
+/. 3 c.341A>G r.(?) p.(Asn114Ser)
+/+ 3 c.343A>G r.(?) p.(Met115Val)
+/. 3 c.343A>G r.(?) p.(Met115Val)
+/+ 3 c.344T>C r.(?) p.(Met115Thr)
+/. - c.344T>C r.(?) p.(Met115Thr)
+/. 3 c.344T>C r.(?) p.(Met115Thr)
+/+ 3 c.362C>G r.(?) p.(Ala121Gly)
?/. - c.366T>C r.(?) p.(Asp122=)
?/. - c.383A>T r.(?) p.(Asp128Val)
+/+ 3 c.385C>A r.(?) p.(Leu129Ile)
+/. 3 c.385C>A r.(?) p.(Leu129Ile)
+/+ 3 c.398A>C r.(?) p.(Gln133Pro)
+/. 3 c.398A>C r.(?) p.(Gln133Pro)
+/+ 4 c.424G>C r.(?) p.(Val142Leu)
-?/. - c.444G>A r.(?) p.(Glu148=)
-?/. - c.447G>A r.(?) p.(Pro149=)
-/. - c.447G>A r.(?) p.(Pro149=)
+/+ 4 c.455T>C r.(?) p.(Leu152Pro)
+/. 4 c.455T>C r.(?) p.(Leu152Pro)
-?/. - c.477C>T r.(=) p.(=)
-?/. - c.477C>T r.(?) p.(Ile159=)
-/. - c.477C>T r.(?) p.(Ile159=)
./. - c.531-74C>T r.(=) p.(=)
./. - c.531-74C>T r.(=) p.(=)
+/+ 5 c.547G>C r.(?) p.(Asp183His)
+/. 5 c.547G>C r.(?) p.(Asp183His)
+/+ 5 c.569C>T r.(?) p.(Ala190Val)
+/. 5 c.569C>T r.(?) p.(Ala190Val)
+/+ 5 c.578A>T r.(?) p.(His193Leu)
+/. 5 c.578A>T r.(?) p.(His193Leu)
+/+ 5 c.579C>G r.(?) p.(His193Gln)
+/. 5 c.579C>G r.(?) p.(His193Gln)
+/+ 5 c.586C>T r.(?) p.(Arg196Trp)
?/. - c.677G>A r.(?) p.(Cys226Tyr)
?/. - c.705-6C>T r.(=) p.(=)
?/. - c.779G>A r.(?) p.(Arg260His)
?/. - c.802G>A r.(?) p.(Ala268Thr)
+/+ 6 c.830A>C r.(?) p.(Gln277Pro)
+/+ 7 c.869T>C r.(?) p.(Ile290Thr)
+/. 7 c.869T>C r.(?) p.(Ile290Thr)
+/+ 7 c.916G>A r.(?) p.(Gly306Arg)
+/. 7 c.916G>A r.(?) p.(Gly306Arg)
+/+ 7 c.925G>T r.(?) p.(Val309Phe)
+/. 7 c.925G>T r.(?) p.(Val309Phe)
-?/. - c.942C>T r.(=) p.(=)
Legend