Transcript #00008385 (NM_000158.3, GBE1 gene)

Transcript name glucan (1,4-alpha-), branching enzyme 1
Gene name GBE1 (glucan (1,4-alpha-), branching enzyme 1)
Chromosome 3
Transcript - NCBI ID NM_000158.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000149.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

98 entries on 1 page. Showing entries 1 - 98.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-58G>A r.(?) p.(=)
-/. - c.-39_-35= r.(=) p.(=)
-?/. - c.-9C>A r.(?) p.(=)
+/. - c.(2052+1_2053-1)_*708{0} r.? p.?
-?/. - c.15G>A r.(?) p.(Met5Ile)
-/. - c.118C>A r.(?) p.(Pro40Thr)
-?/. - c.118C>A r.(?) p.(Pro40Thr)
-?/. - c.118C>T r.(?) p.(Pro40Ser)
?/. - c.118C>T r.(?) p.(Pro40Ser)
-/. - c.143+10G>T r.(=) p.(=)
-/. - c.143+10G>T r.(=) p.(=)
-/. - c.143+10G>T r.(=) p.(=)
-/. - c.143+10G>T r.(=) p.(=)
-?/. - c.143+11A>C r.(=) p.(=)
-?/. - c.176T>C r.(?) p.(Ile59Thr)
-?/. - c.176T>C r.(?) p.(Ile59Thr)
?/. - c.176T>C r.(?) p.(Ile59Thr)
-?/. - c.176T>C r.(?) p.(Ile59Thr)
-?/. - c.176T>C r.(?) p.(Ile59Thr)
+?/. - c.263G>A r.(?) p.(Cys88Tyr)
-/. - c.342C>T r.(?) p.(Tyr114=)
-/. - c.342C>T r.(?) p.(Tyr114=)
-/. - c.342C>T r.(?) p.(Tyr114=)
-?/. - c.405C>T r.(?) p.(Leu135=)
-?/. - c.405C>T r.(?) p.(Leu135=)
-?/. - c.405C>T r.(?) p.(Leu135=)
?/. - c.488A>G r.(?) p.(Tyr163Cys)
+/. - c.505del r.(?) p.(Asp169IlefsTer3)
?/. - c.538C>A r.(?) p.(Pro180Thr)
?/. - c.555+14del r.(=) p.(=)
-/. - c.568A>G r.(?) p.(Arg190Gly)
-/. - c.568A>G r.(?) p.(Arg190Gly)
-/. - c.568A>G r.(?) p.(Arg190Gly)
-/. - c.568A>G r.(?) p.(Arg190Gly)
-/. - c.579G>A r.(?) p.(Lys193=)
-/. - c.579G>A r.(?) p.(Lys193=)
?/. - c.584G>A r.(?) p.(Arg195Gln)
?/. - c.606T>G r.(?) p.(Ser202=)
?/. - c.691G>C r.(?) p.(Gly231Arg)
+/. - c.691+2T>C r.spl p.?
+/. - c.691+2T>C r.spl p.?
+/. - c.691+2T>C r.spl? p.?
+?/. - c.691+2T>C r.spl p.?
+/. - c.691+2T>C r.spl? p.?
+/. - c.691+2T>C r.spl? p.?
+/. - c.691+2T>C r.spl? p.?
+/. - c.691+2T>C r.spl? p.?
+/. - c.691+2T>C r.spl? p.?
+?/. - c.708G>C r.(?) p.(Gln236His)
?/. - c.760A>G r.(?) p.(Thr254Ala)
+?/. - c.760A>G r.(?) p.(Thr254Ala)
?/. 6 c.760A>G r.(?) p.(Thr254Ala)
+/. - c.760A>G r.(?) p.(Thr254Ala)
?/. - c.763A>G r.(?) p.(Ser255Gly)
-?/. - c.839G>A r.(?) p.(Gly280Asp)
?/. - c.839G>A r.(?) p.(Gly280Asp)
+/. - c.956A>G r.(?) p.(His319Arg)
+?/. - c.986A>C r.(?) p.(Tyr329Ser)
?/. - c.986A>G r.(?) p.(Tyr329Cys)
+?/. - c.986A>G r.(?) p.(Tyr329Cys)
+/. - c.986A>G r.(?) p.(Tyr329Cys)
?/. - c.986A>G r.(?) p.(Tyr329Cys)
+/. 7 c.986A>G r.(?) p.(Tyr329Cys)
+?/. - c.986A>G r.(?) p.(Tyr329Cys)
-/. - c.1000= r.(=) p.(Val334=)
-/. - c.1000= r.(=) p.(Val334=)
-/. - c.1000= r.(=) p.(Val334=)
+/. - c.1063C>T r.(?) p.(Arg355Cys)
?/. - c.1094A>G r.(?) p.(His365Arg)
-?/. - c.1134T>G r.(?) p.(Ser378Arg)
-?/. - c.1237-18C>T r.(=) p.(=)
?/. - c.1375G>T r.(?) p.(Asp459Tyr)
+?/. - c.1471G>A r.(?) p.(Ala491Thr)
?/. - c.1492G>A r.(?) p.(Glu498Lys)
?/. - c.1492G>A r.(?) p.(Glu498Lys)
?/. - c.1492G>A r.(?) p.(Glu498Lys)
?/. - c.1492G>A r.(?) p.(Glu498Lys)
?/. - c.1492G>A r.(?) p.(Glu498Lys)
+/. - c.1496T>C r.(?) p.(Met499Thr)
-/. - c.1519A>G r.(?) p.(Thr507Ala)
-?/. - c.1519A>G r.(?) p.(Thr507Ala)
-/. - c.1519A>G r.(?) p.(Thr507Ala)
-/. - c.1519A>G r.(?) p.(Thr507Ala)
-?/. - c.1521T>C r.(?) p.(Thr507=)
-?/. - c.1521T>C r.(?) p.(Thr507=)
+?/. - c.1571G>A r.(?) p.(Arg524Gln)
+/. - c.1621A>T r.(?) p.(Asn541Tyr)
?/. - c.1745A>C r.(?) p.(Asn582Thr)
+/. - c.1787G>A r.(?) p.(Trp596Ter)
?/. - c.1803G>A r.(?) p.(Gln601=)
-?/. - c.1932G>A r.(?) p.(Gly644=)
+?/. - c.1934+1A>G r.spl? p.?
-?/. - c.2017G>A r.(?) p.(Ala673Thr)
-?/. - c.2017G>A r.(?) p.(Ala673Thr)
-?/. - c.2017G>A r.(?) p.(Ala673Thr)
-/. - c.2052+51_2052+52insCTT r.(=) p.(=)
-?/. - c.2067C>T r.(?) p.(Ser689=)
+?/. 16 c.2081T>A r.(?) p.(Ile694Asn)
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