Transcript #00024135 (NM_000642.2, AGL gene)

Transcript name transcript variant 1
Gene name AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)
Chromosome 1
Transcript - NCBI ID NM_000642.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000633.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/? 2 c.-10A>G r.(?) p.(=)
-/. - c.-10A>G r.(?) p.(=)
+/. - c.16C>T r.(?) p.(Gln6Ter)
-?/. - c.82+1565T>G r.(=) p.(=)
-?/. - c.82+1565T>G r.(=) p.(=)
-/. - c.83-33C>T r.(=) p.(=)
+/? 3 c.94C>T r.(?) p.(Gln32*)
?/. 3 c.112A>G r.(?) p.(Thr38Ala)
?/. 3 c.112A>G r.(?) p.(Thr38Ala)
-?/. - c.207T>C r.(=) p.(=)
+/? 3 c.256C>T r.(?) p.(Gln862*)
+/. - c.256C>T r.(?) p.(Gln86*)
+?/. - c.294-2A>T r.spl? p.?
?/. - c.344T>C r.(?) p.(Val115Ala)
+/. 4 c.378T>A r.(?) p.(Cys126*)
?/. - c.405G>C r.(?) p.(Lys135Asn)
-?/. - c.443G>A r.(?) p.(Arg148Lys)
+/. - c.658C>T r.(?) p.(His220Tyr)
-?/. - c.846+14G>A r.(=) p.(=)
-/. - c.894C>T r.(?) p.(Leu298=)
+?/. - c.958+1G>A r.spl p.?
-/. - c.959-18G>A r.(=) p.(=)
-?/. - c.968G>A r.(?) p.(Arg323Gln)
+?/. - c.1020del r.(?) p.(Glu340Aspfs*9)
?/. - c.1028G>A r.(?) p.(Arg343Gln)
-?/. - c.1042G>A r.(?) p.(Val348Ile)
?/. - c.1076C>T r.(?) p.(Pro359Leu)
-?/. - c.1155G>T r.(?) p.(Lys385Asn)
-?/. - c.1155G>T r.(?) p.(Lys385Asn)
-/. - c.1155G>T r.(?) p.(Lys385Asn)
-?/. - c.1155G>T r.(?) p.(Lys385Asn)
-?/. - c.1155G>T r.(?) p.(Lys385Asn)
-?/. - c.1160G>A r.(?) p.(Arg387Gln)
+/. 9 c.1183C>T r.(1183c>u) p.(Gln395*)
-/. - c.1185+15T>C r.(=) p.(=)
+?/. - c.1186-3C>G r.spl? p.?
?/. - c.1432G>A r.(?) p.(Val478Ile)
-?/. - c.1481G>A r.(?) p.(Arg494His)
+?/. - c.1505_1514del r.(?) p.(Cys502SerfsTer5)
+/. - c.1632dup r.(?) p.(Asn545Glufs*11)
+/. - c.1735+1G>T r.spl p.?
+/. - c.1735+1G>T r.spl p.?
?/. - c.1759C>T r.(?) p.(His587Tyr)
?/. - c.1759C>T r.(?) p.(His587Tyr)
-?/. - c.1875G>T r.(?) p.(Thr625=)
+?/. - c.1877A>G r.(?) p.(His626Arg)
+/? 15 c.1939_1941del r.(?) p.(Val647del)
-/? 15i c.2001+8T>C r.(=) p.(=)
-/. - c.2001+8T>C r.(=) p.(=)
+/. 15i c.2002-2A>G r.spl p.?
+/. - c.2107_2108insA r.(?) p.(Cys703Ter)
+?/. - c.2155C>T r.(?) p.(Gln719*)
?/. - c.2161T>C r.(?) p.(Tyr721His)
?/. - c.2222A>G r.(?) p.(Gln741Arg)
?/. - c.2308G>C r.(?) p.(Gly770Arg)
-?/. - c.2390A>G r.(?) p.(Asn797Ser)
?/. - c.2390A>G r.(?) p.(Asn797Ser)
-?/. - c.2522C>T r.(?) p.(Ser841Phe)
-?/. - c.2546+10T>C r.(=) p.(=)
-?/. - c.2682T>A r.(?) p.(Ser894=)
+/. - c.2723T>G r.(?) p.(Leu908Arg)
-?/. - c.2737T>A r.(?) p.(Ser913Thr)
-/. - c.2812+11G>A r.(=) p.(=)
-?/. - c.2814T>G r.(?) p.(Gly938=)
-?/. - c.2883A>G r.(?) p.(Arg961=)
-/. - c.2883A>G r.(?) p.(Arg961=)
+/? 23 c.3014del r.(?) p.(Cys1005PhefsTer7)
+/? 25 c.3014del r.(?) p.(Cys1005PhefsTer7)
?/. - c.3082A>G r.(?) p.(Ser1028Gly)
?/. 25 c.3290G>A r.(?) p.(Arg1097His)
+?/. 25 c.3295T>C r.(3295u>c) p.(Trp1099Arg)
+/? 25 c.3343G>A r.(?) p.(Gly1115Arg)
-?/. - c.3384G>A r.(?) p.(Ala1128=)
-/. - c.3384G>A r.(?) p.(Ala1128=)
+?/. - c.3423_3424del r.(?) p.(Glu1142Argfs*24)
+/. - c.3526A>T r.(?) p.(Lys1176*)
?/. - c.3584C>G r.(?) p.(Thr1195Arg)
+/? 27 c.3665del r.(?) p.(Ala1222ValfsTer5)
-?/. - c.3668G>A r.(?) p.(Gly1223Asp)
-?/. - c.3738A>T r.(?) p.(Gly1246=)
?/. - c.3764A>G r.(?) p.(Asn1255Ser)
+/. 28 c.3777G>A r.(3777g>a) p.(Trp1259*)
-?/. - c.3849T>C r.(=) p.(=)
+?/. - c.3890del r.(?) p.(Leu1297Cysfs*17)
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7)
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7)
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7)
+/? 30 c.3965del r.3965del p.(Val1322AlafsTer27)
+/? 30 c.3965del r.3965del p.(Val1322AlafsTer27)
+/? 30 c.3965del r.3965del p.(Val1322AlafsTer27)
+/? 30 c.3965del r.3965del p.(Val1322AlafsTer27)
+/? 30 c.3965del r.(?) p.(Val1322AlafsTer27)
?/. - c.3995A>C r.(?) p.(Gln1332Pro)
+/? 31 c.4221dup r.(?) p.(Leu1408IlefsTer14)
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16)
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16)
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16)
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16)
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