Transcript #00016540 (NM_013382.5, POMT2 gene)

Transcript name protein-O-mannosyltransferase 2
Gene name POMT2 (protein-O-mannosyltransferase 2)
Chromosome 14
Transcript - NCBI ID NM_013382.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_037514.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

415 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. 1 c.-47_-44del r.(?) p.(=)
-/. 1 c.-47_-44del r.(?) p.(=)
+/. 12 c.? r.(?) p.(Thr433*)
?/. 1 c.84C>T r.(?) p.(=)
?/. 1 c.128A>G r.(?) p.(Lys43Arg)
?/. - c.148C>G r.(?) p.(Arg50Gly)
-/. - c.161C>A r.(?) p.(Ala54Glu)
-/. 1 c.161C>A r.(?) p.(Ala54Glu)
-/. - c.162G>T r.(?) p.(Ala54=)
-/. - c.162G>T r.(?) p.(Ala54=)
-/. 1 c.162G>T r.(?) p.(=)
-/. - c.162G>T r.(?) p.(Ala54=)
?/. - c.203C>T r.(?) p.(Ser68Phe)
?/. 1 c.224G>C r.(?) p.(Arg75Pro)
+?/. - c.227T>G r.(?) p.(Leu76Trp)
+?/. - c.227T>G r.(?) p.(Leu76Trp)
+?/. - c.227T>G r.(?) p.(Leu76Trp)
+/. - c.227T>G r.(?) p.(Leu76Trp)
?/. 1 c.229G>A r.(?) p.(Asp77Asn)
?/. 1 c.232G>C r.(?) p.(Glu78Gln)
?/. 1 c.232G>C r.(?) p.(Glu78Gln)
?/. 1 c.232G>C r.(?) p.(Glu78Gln)
?/. 1 c.232G>C r.(?) p.(Glu78Gln)
?/. 1 c.232G>C r.(?) p.(Glu78Gln)
?/. 1 c.232G>C r.(?) p.(Glu78Gln)
?/. 1 c.232G>C r.(?) p.(Glu78Gln)
+/. - c.232G>T r.(?) p.(Glu78Ter)
+/. 1i c.248+2T>C r.spl p.?
+/. 1i c.248+5G>C r.[248_249ins248+1_248+72; 248+5g>c] p.Cys83Trpfs*2
+/. - c.287A>G r.(?) p.(Tyr96Cys)
+?/. - c.287A>G r.(?) p.(Tyr96Cys)
+?/. - c.287A>G r.(?) p.(Tyr96Cys)
+/. - c.287A>G r.(?) p.(Tyr96Cys)
+/. 2 c.287A>G r.(?) p.(Tyr96Cys)
+/. 2 c.287A>G r.(?) p.(Tyr96Cys)
?/. 2 c.293A>G r.(?) p.(Asn98Ser)
?/. 2 c.293A>G r.(?) p.(Asn98Ser)
?/. 2 c.293A>G r.(?) p.(Asn98Ser)
+?/. - c.295C>T r.(?) p.(Arg99Cys)
?/. 2 c.295C>T r.(?) p.(Arg99Cys)
?/. 2 c.295C>T r.(?) p.(Arg99Cys)
+/. - c.295C>T r.(?) p.(Arg99Cys)
+?/. 2 c.295del r.(?) p.(Arg99Valfs*15)
+?/. - c.306C>A r.(?) p.(Phe102Leu)
+?/. 2 c.332A>G r.(?) p.(Lys111Arg)
+/. 2i c.334-2172_657-763delinsCCTG r.334_656del p.Met112Alafs*16
-?/. 2i c.334-45T>C r.(?) p.(=)
-/. 2i c.334-45T>C r.(?) p.(=)
+/. - c.365G>T r.(?) p.(Gly122Val)
+?/. - c.406T>C r.(?) p.(Tyr136His)
+/. 3 c.406T>C r.(?) p.(Tyr136His)
+?/. 3 c.406T>C r.(?) p.(Tyr136His)
?/. - c.431T>C r.(?) p.(Met144Thr)
+/. - c.431T>G r.(?) p.(Met144Arg)
-/. 3i c.439-98A>T r.(?) p.(=)
-/. 3i c.439-45C>T r.(?) p.(=)
+/. - c.479A>G r.(?) p.(Tyr160Cys)
+?/. - c.479A>G r.(?) p.(Tyr160Cys)
+/. - c.487G>C r.(?) p.(Val163Leu)
-?/. 4 c.512C>T r.(?) p.(Ser171Leu)
+/. 4 c.527C>T r.(?) p.(Thr176Ile)
-/. 4i c.548-77C>G r.(?) p.(=)
+/. - c.551C>T r.(?) p.(Thr184Met)
+/. - c.551C>T r.(?) p.(Thr184Met)
+?/. - c.551C>T r.(?) p.(Thr184Met)
+?/. - c.551C>T r.(?) p.(Thr184Met)
+?/. - c.551C>T r.(?) p.(Thr184Met)
?/. 5 c.551C>T r.(?) p.(Thr184Met)
+/. - c.551C>T r.(?) p.(Thr184Met)
+/. - c.551C>T r.(?) p.(Thr184Met)
+/. 5 c.551C>T r.(?) p.(Thr184Met)
+/. 5 c.551C>T r.(?) p.(Thr184Met)
+/. 5 c.551C>T r.(?) p.(Thr184Met)
?/. 5 c.551C>T r.(?) p.(Thr184Met)
+/. - c.557G>A r.(?) p.(Cys186Tyr)
?/. 5 c.559C>T r.(?) p.(Leu187Phe)
?/. 5 c.586G>T r.(?) p.(Asp196Tyr)
+/. 5 c.593T>A r.(?) p.(Ile198Asn)
+/. 5 c.593T>A r.(?) p.(Ile198Asn)
?/. 5 c.603C>G r.(?) p.(Phe201Leu)
?/. 5 c.603C>G r.(?) p.(Phe201Leu)
+/. - c.604T>G r.(?) p.(Phe202Val)
+?/. - c.604T>G r.(?) p.(Phe202Val)
+/. - c.604T>G r.(?) p.(Phe202Val)
+/. 5 c.604T>G r.(?) p.(Phe202Val)
+/. 5 c.604T>G r.(?) p.(Phe202Val)
?/. 5 c.613G>A r.(?) p.(Ala205Thr)
?/. 5 c.621G>A r.(?) p.(Met207Ile)
?/. - c.629T>C r.(?) p.(Met210Thr)
+/. 5 c.639C>A r.(?) p.(Tyr213*)
-?/. - c.640A>C r.(?) p.(Asn214His)
-?/. - c.648C>T r.(?) p.(Cys216=)
-?/. - c.648C>T r.(?) p.(Cys216=)
?/. 5 c.649G>A r.(?) p.(Ala217Thr)
?/. - c.649G>A r.(?) p.(Ala217Thr)
?/. 5 c.649G>A r.(?) p.(Ala217Thr)
-?/. - c.652G>A r.(?) p.(Asp218Asn)
?/. 5 c.652G>A r.(?) p.(Asp218Asn)
-/. - c.656+3C>G r.spl? p.?
-?/. - c.657-18C>T r.(=) p.(=)
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