Transcript #00024074 (NM_004737.4, LARGE gene)

Transcript name transcript variant 1
Gene name LARGE (like-glycosyltransferase)
Chromosome 22
Transcript - NCBI ID NM_004737.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004728.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

125 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-240C>T r.(?) p.(=)
+/. 2i_10i c.-83+31477_1131+3394del r.-82_1131del p.?
+/. - c.(?_-83+31477)_*1351del r.0? p.0?
-/. 3 c.-63C>T r.(?) p.(=)
-/. - c.-63C>T r.(?) p.(=)
?/. 3 c.-31G>A r.(?) p.(=)
+/. ? c.(?)del r.? p.?
+/. 1i_4i c.-145-(24848_24703)_409-(3319_3067)dup c.(-145_408dup) p.?
?/. _1_16_ c.? r.? p.?
+/. 5 c.? r.(?) p.(Gln87fs*)
-?/. 3 c.16A>C r.(?) p.(=)
-?/. - c.90T>G r.(?) p.(Phe30Leu)
-?/. - c.98G>A r.(?) p.(Ser33Asn)
+/. 3i_4i c.106+6363_408-6629delinsGTGTG r.107_408del p.Gly367Asnfs*27
?/. 3i c.107-40003_107-40002del r.(?) p.(=)
-?/. - c.164C>T r.(?) p.(Thr55Met)
-/. - c.165G>C r.(?) p.(Thr55=)
?/. - c.178C>T r.(?) p.(Arg60Trp)
?/. - c.178C>T r.(?) p.(Arg60Trp)
-?/. - c.210C>T r.(?) p.(Arg70=)
-/. 4 c.211G>A r.(?) p.(Glu71Lys)
-?/. - c.251G>C r.(?) p.(Ser84Thr)
-?/. - c.266G>A r.(?) p.(Arg89Gln)
-?/. - c.266G>A r.(?) p.(Arg89Gln)
?/. 4 c.309C>A r.(?) p.(=)
-/. - c.309C>T r.(?) p.(Ser103=)
?/. 4 c.309C>T r.(?) p.(=)
?/. - c.334G>A r.(?) p.(Glu112Lys)
?/. - c.351C>T r.(?) p.(Gly117=)
?/. - c.391G>A r.(?) p.(Val131Ile)
-?/. - c.391G>A r.(?) p.(Val131Ile)
-/. - c.409-19C>T r.(=) p.(=)
-?/. 4i c.409-19C>T r.(?) p.(=)
-/. - c.435C>T r.(?) p.(Ala145=)
-/. - c.435C>T r.(?) p.(Ala145=)
-/. 5 c.435C>T r.(?) p.(?)
-/. 5 c.435C>T r.(?) p.(=)
-/. - c.435C>T r.(?) p.(Ala145=)
?/. - c.460G>A r.(?) p.(Val154Ile)
-/. 6 c.552G>A r.(?) p.(?)
-/. - c.576C>T r.(?) p.(Pro192=)
-/. - c.576C>T r.(?) p.(Pro192=)
-/. 6 c.576C>T r.(?) p.(=)
-?/. - c.615+10G>T r.(=) p.(=)
+/. 6i_7i c.616-15194_788-42870delinsATG r.616_787del p.Ser206Valfs*37
?/. - c.675del r.(?) p.(Val226SerfsTer2)
-/. - c.729G>A r.(?) p.(Thr243=)
?/. - c.787+32785_788-46910dup r.(?) p.(=)
-?/. 7i c.788-4484T>C r.(=) p.(=)
-/. - c.788-29A>G r.(=) p.(=)
?/. 8 c.862T>C r.(?) p.(Trp288Arg)
?/. 8 c.862T>C r.(?) p.(Trp288Arg)
-/. 8i c.892+50C>T r.(?) p.(=)
+/. 8i_10i c.893-20485_1132-21856del r.893_1131del p.Val299Hisfs*30
-/. 8i c.893-17976_1132-1388del r.(ex09ex10del) p.delfs*?
-/. 8i c.893-17976_1132-1388del r.(ex09ex10del) p.delfs*?
?/. 8i c.893-64_893-55del r.(=) p.(=)
-/. - c.893-17C>G r.(=) p.(=)
-/. - c.893-17C>G r.(=) p.(=)
+/. 9 c.992C>T r.(?) p.(Ser331Phe)
-?/. - c.1008T>C r.(?) p.(Asp336=)
-/. 10 c.1092C>T r.(?) p.(?)
+/. 10 c.1102C>T r.(?) p.(Gln368*)
?/. 10 c.1116C>T r.(?) p.(=)
+/. 10i c.1131+?_1131+?delins r.[1131_1132insDA935254.1:151_347, 1131_1132insDA935254.1:151_321, =] p.[Val378Leufs*2, =]
+/. 10i c.1131+?_1131+?delins r.[1131_1132insDA935254.1:151_347, 1131_1132insDA935254.1:151_321, =] p.[Val378Leufs*2, =]
+/. - c.1142G>A r.(?) p.(Trp381Ter)
?/. 11i c.1287+11C>T r.(?) p.(=)
-/. 11i c.1287+105G>C r.(=) p.(=)
-/. 11i c.1287+146C>T r.(=) p.(=)
?/. 12 c.1328_1329delinsAT r.(?) p.(Cys443Tyr)
?/. - c.1340G>A r.(?) p.(Arg447Gln)
-?/. - c.1413C>A r.(?) p.(Ser471Arg)
-?/. - c.1420G>A r.(?) p.(Val474Ile)
?/. - c.1420G>A r.(?) p.(Val474Ile)
?/. 12 c.1431C>T r.(?) p.(=)
-/. 12i c.1451+38C>T r.(?) p.(=)
-/. 12i c.1452-28C>T r.(?) p.(=)
-?/. - c.1462C>T r.(?) p.(Leu488=)
+/. 13 c.1483T>C r.(?) p.(Trp495Arg)
+/. - c.1483T>C r.(?) p.(trp495Arg)
?/. - c.1522G>A r.(?) p.(Ala508Thr)
+?/. 13 c.1525G>A r.(?) p.(Glu509Lys)
+/. 13 c.1525G>A r.(?) p.(Glu509Lys)
+/. 13 c.1525G>A r.(?) p.(Glu509Lys)
+/. 13 c.1548C>G r.(?) p.(Trp516*)
-/. - c.1548C>T r.(?) p.(Tyr516=)
-/. 13 c.1548C>T r.(?) p.(=)
?/. 13 c.1640G>A r.(?) p.(Arg547His)
+/. 13 c.1640G>A r.(?) p.(Arg547His)
?/. 13 c.1640G>A r.(?) p.(Arg547His)
+?/. - c.1640G>A r.(?) p.(Arg547His)
?/. - c.1706T>C r.(?) p.(Met569Thr)
-/. 13i c.1731-24T>C r.(?) p.(=)
-/. - c.1788G>A r.(?) p.(Ala596=)
+?/. - c.1792G>A r.(?) p.(Glu598Lys)
?/. - c.1802G>A r.(?) p.(Arg601His)
-/. - c.1827A>G r.(?) p.(Ser609=)
-/. 14 c.1827A>G r.(?) p.(=)
-/. - c.1827A>G r.(?) p.(Ser609=)
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