Transcript #00003208 (NM_080605.3, B3GALT6 gene)

Transcript name UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Gene name B3GALT6 (beta-1,3-galactosyltransferase 6)
Chromosome 1
Transcript - NCBI ID NM_080605.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_542172.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

90 entries on 1 page. Showing entries 1 - 90.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
?/. - c.-3575_-3573del r.(?) p.(=) - -
+?/+? 1 c.1A>G r.(?) p.0? initiating methionine substitution
+?/+? 1 c.1A>G r.(?) p.0? initiating methionine substitution
+?/+? 1 c.1A>G r.(?) p.0? initiating methionine substitution
+?/+? 1 c.1A>G r.(?) p.0? initiating methionine substitution
+?/+? 1 c.1A>G r.(?) p.0? initiating methionine substitution
+/+ 1 c.3G>A r.(?) p.0? initiating methionine substitution
+/+? 1 c.16C>T r.(?) p.(Arg6Trp) missense substitution
+?/+? 1 c.16C>T r.(?) p.(Arg6Trp) missense substitution
+?/+? 1 c.16C>T r.(?) p.(Arg6Trp) - -
-?/. - c.22_36dup r.(?) p.(Trp8_Ala12dup) - -
+/+ 1 c.77T>C r.(?) p.(Leu26Pro) missense substitution
+/+ 1 c.181G>C r.(?) p.(Val61Leu) missense substitution
?/. - c.181G>C r.(?) p.(Val61Leu) - -
+?/. 1 c.182T>C r.(?) p.(Val61Ala) - -
+?/+? 1 c.193A>G r.(?) p.(Ser65Gly) missense substitution
+/+ 1 c.197_253del r.(?) p.(Ala66_Arg84del) deletion deletion
+?/+? 1 c.200C>T r.(?) p.(Pro67Leu) missense substitution
+?/+? 1 c.200C>T r.(?) p.(Pro67Leu) missense substitution
+/+? 1 c.200C>T r.(?) p.(Pro67Leu) missense substitution
+?/+? 1 c.200C>T r.(?) p.(Pro67Leu) missense substitution
+/+ 1 c.227del r.(?) p.(Ile76Thrfs*202) frameshift deletion
+?/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution
+/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution
+?/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution
+?/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution
+?/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution
-/- 1 c.308C>T r.(?) p.(Ala103Val) missense substitution
+/+ 1 c.323_344del r.(?) p.(Ala108Glyfs∗163) nonsense deletion
-?/. - c.324C>A r.(?) p.(Ala108=) - -
+/+ 1 c.353del r.(?) p.(Asp118Alafs*160) nonsense deletion
+/+ 1 c.353del r.(?) p.(Asp118Alafs*160) nonsense deletion
?/. - c.381C>G r.(?) p.(Asp127Glu) - -
+/+? 1 c.415_423del r.(?) p.(Met139Ala141del) deletion deletion
+/+ 1 c.430G>A r.(?) p.(Asp144Asn) missense substitution
?/. - c.430G>A r.(?) p.(Asp144Asn) - -
+?/+? 1 c.466G>A r.(?) p.(Asp156Asn) missense substitution
+/+ 1 c.476C>A r.(?) p.(Ser159Tyr) missense substitution
+/+ 1 c.477del r.(?) p.(Phe160Serfs*118) frameshift deletion
-?/. - c.483G>A r.(?) p.(Ala161=) - -
+?/+? 1 c.511C>T r.(?) p.(Arg171Cys) missense substitution
+/+ 1 c.513_520del r.(?) p.(Glu174Alafs*266) frameshift deletion
+/+ 1 c.513_520del r.(?) p.(Glu174Alafs*266) frameshift deletion
+/+ 1 c.513_520del r.(?) p.(Glu174Alafs*266) frameshift deletion
-?/. - c.515C>T r.(?) p.(Ala172Val) - -
-?/. - c.515C>T r.(?) p.(Ala172Val) - -
-?/. - c.519C>T r.(?) p.(Arg173=) - -
-/. - c.522G>C r.(?) p.(Glu174Asp) - -
+/+ 1 c.536_541dup r.(?) p.(Arg179_Arg180dup) duplication duplication
+/. - c.536_541dup r.(?) p.(Arg179_Arg180dup) - -
-?/. - c.540C>A r.(?) p.(Arg180=) - -
+/+ 1 c.545A>G r.(?) p.(Tyr182Cys) missense substitution
+/+ 1 c.556T>C r.(?) p.(Phe186Leu) missense substitution
+/+ 1 c.556T>C r.(?) p.(Phe186Leu) missense substitution
+/+ 1 c.556T>C r.(?) p.(Phe186Leu) missense substitution
+/. - c.556T>C r.(?) p.(Phe186Leu) - -
+/. - c.556T>C r.(?) p.(Phe186Leu) - -
+/. - c.556T>C r.(?) p.(Phe186Leu) - -
+/. - c.556T>C r.(?) p.(Phe186Leu) - -
+/+ 1 c.588del r.(?) p.(Arg197Alafs∗81) nonsense deletion
+/. 1 c.588dup r.(?) p.(Arg197Alafs*246) - -
+?/. - c.588dup r.(?) p.(Arg197AlafsTer246) - -
+/+? 1 c.618C>G r.(?) p.(Cys206Trp) missense substitution
+/+ 1 c.619G>C r.(?) p.(Asp207His) missense substitution
+/+ 1 c.619G>C r.(?) p.(Asp207His) missense substitution
-?/. - c.630G>A r.(?) p.(Leu210=) - -
+/+ 1 c.631C>T r.(?) p.(Pro211Ser) missense substitution
+/+ 1 c.649G>A r.(?) p.(Gly217Ser) missense substitution
+?/+? 1 c.694C>T r.(?) p.(Arg232Cys) missense substitution
+?/+? 1 c.694C>T r.(?) p.(Arg232Cys) missense substitution
+?/+? 1 c.694C>T r.(?) p.(Arg232Cys) missense substitution
+?/+? 1 c.694C>T r.(?) p.(Arg232Cys) missense substitution
-?/. - c.735G>C r.(?) p.(Leu245=) - -
+?/+? 1 c.766C>T r.(?) p.(Arg256Trp) missense substitution
+/+ 1 c.782G>A r.(?) p.(Arg261His) missense substitution
+/+ 1 c.795A>C r.(?) p.(Glu265Asp) missense substitution
+/+ 1 c.795A>C r.(?) p.(Glu265Asp) missense substitution
+/+ 1 c.808G>A r.(?) p.(Gly270Ser) missense substitution
-?/. - c.825C>T r.(?) p.(Tyr275=) - -
?/. - c.833C>T r.(?) p.(Thr278Met) - -
+?/+? 1 c.845_846delinsTA r.(?) p.(Ser282Ile) missense delins
?/. - c.895C>A r.(?) p.(Leu299Met) - -
+?/+? 1 c.899G>C r.(?) p.(Cys300Ser) missense substitution
+?/+? 1 c.901_921dup r.(?) p.(Lys301_Arg307dup) duplication duplication
+/+? 1 c.925T>A r.(?) p.(Ser309Thr) missense substitution
+/+? 1 c.925T>A r.(?) p.(Ser309Thr) missense substitution
+/+ 1 c.925T>A r.(?) p.(Ser309Thr) missense substitution
+/+ 1 c.929A>G r.(?) p.(Tyr310Cys) missense substitution
+/+ 1 c.953C>T r.(?) p.(Pro318Leu) missense substitution
+?/+? 1 c.987_989del r.(?) p.(*330Alaext*72) frameshift deletion
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