Transcript #00000029

Transcript name phosphomannomutase 2
Gene name PMM2 (phosphomannomutase 2)
Chromosome 16
Transcript - NCBI ID NM_000303.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000294.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

316 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 1 c.1A>G r.(?) p.M1V
+/+ 1 c.24del r.(?) p.(Cys9Alafs*27)
+/+ 1 c.24del r.(?) p.(Cys9Alafs*27)
+/+ 1 c.26G>A r.(?) p.(Cys9Tyr)
+/+ 1 c.44G>A r.(?) p.(Gly15Glu)
+/+ 1 c.44G>A r.(?) p.(Gly15Glu)
+/+ 1 c.53C>G r.(?) p.(Thr18Ser)
+/. - c.61C>G r.(?) p.(Arg21Gly)
+/. - c.61C>G r.(?) p.(Arg21Gly)
+/+ 1 c.64C>T r.(?) p.(Gln22*)
?/. - c.67-6A>G r.(=) p.(=)
-?/. - c.90C>G r.(?) p.(Asp30Glu)
+/. - c.95T>G r.(?) p.(Leu32Arg)
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg)
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg)
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg)
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg)
+/+ 2 c.95_96delinsGC r.(?) p.(Leu32Arg)
+/+ 2 c.124G>A r.(?) p.(Gly42Arg)
+/+ 2 c.124G>A r.(?) p.(Gly42Arg)
?/. - c.124G>A r.(?) p.(Gly42Arg)
?/. - c.128T>C r.(?) p.(Val43Ala)
+/. - c.160dup r.(?) p.(Glu54GlyfsTer6)
+/+ 2 c.178G>T r.(?) p.(Val60Leu)
-/. - c.179-15dup r.(=) p.(=)
+/. - c.191A>C r.(?) p.(Tyr64Ser)
+/+ 3 c.193G>T r.(?) p.(Asp65Tyr)
+/+ 3 c.193G>T r.(?) p.(Asp65Tyr)
+/. - c.193G>T r.(?) p.(Asp65Tyr)
+/+ 3 c.205C>T r.(?) p.(Pro69Ser)
+/+ 3 c.205C>T r.(?) p.(Pro69Ser)
+/+ 3 c.205C>T r.(?) p.(Pro69Ser)
+/. - c.205C>T r.(?) p.(Pro69Ser)
?/. - c.248G>A r.(?) p.(Cys83Tyr)
+/. - c.255+2T>C r.spl? p.?
+/+ 3i c.255+2T>C r.(=) p.(=)
+/+ 4 c.278A>C r.(?) p.(Glu93Ala)
+/+ 4 c.310C>G r.(?) p.(Leu104Val)
+/+ 4 c.323C>T r.(?) p.(Ala108Val)
+/+ 4 c.323C>T r.(?) p.(Ala108Val)
-/. - c.324G>A r.(?) p.(Ala108=)
-/. - c.324G>A r.(?) p.(Ala108=)
?/. - c.324G>A r.(=) p.(=)
?/. - c.324G>A r.(=) p.(=)
+/. - c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/+ 4 c.338C>T r.(?) p.(Pro113Leu)
+/. - c.338C>T r.(?) p.(Pro113Leu)
+/. - c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/. - c.357C>A r.(?) p.(Phe119Leu)
+/. - c.357C>A r.(?) p.(Phe119Leu)
+/. - c.357C>A r.(?) p.(Phe119Leu)
?/+ 5 c.357C>A r.(?) p.(Phe119Leu)
?/+ 5 c.357C>A r.(?) p.(Phe119Leu)
+/. - c.357C>A r.(?) p.(Phe119Leu)
+?/. - c.359T>C r.(?) p.(Ile120Thr)
+/+ 5 c.367C>T r.(?) p.(Arg123*)
+/. - c.368G>A r.(?) p.(Arg123Gln)
+/+ 5 c.368G>A r.(?) p.(Arg123Gln)
+/+ 5 c.368G>A r.(?) p.(Arg123Gln)
+/+ 5 c.368G>A r.(?) p.(Arg123Gln)
+/+ 5 c.368G>A r.(?) p.(Arg123Gln)
+/+ 5 c.368G>A r.(?) p.(Arg123Gln)
+/+ 5 c.368G>A r.(?) p.(Arg123Gln)
+/. - c.368G>A r.(?) p.(Arg123Gln)
+/. - c.368G>A r.(?) p.(Arg123Gln)
+/+ 5 c.385G>A r.(?) p.(Val129Met)
+/+ 5 c.385G>A r.(?) p.(Val129Met)
+/+ 5 c.385G>A r.(?) p.(Val129Met)
+/+ 5 c.385G>A r.(?) p.(Val129Met)
+/+ 5 c.385G>A r.(?) p.(Val129Met)
+/+ 5 c.385G>A r.(?) p.(Val129Met)
+/+ 5 c.385G>A r.(?) p.(Val129Met)
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