Transcript #00000501 (NM_003334.3, UBA1 gene)

Transcript name transcript variant 1
Gene name UBA1 (ubiquitin-like modifier activating enzyme 1)
Chromosome X
Transcript - NCBI ID NM_003334.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003325.2
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     
?/. - c.-7748C>T r.(?) p.(=)
-?/. - c.-7647G>A r.(?) p.(=)
-/. - c.1-555A>G r.(=) p.(=)
+/. 3 c.121A>C r.(?) p.(Met41Leu)
+/. 3 c.121A>C r.(?) p.(Met41Leu)
+/. 3 c.121A>C r.(?) p.(Met41Leu)
+/. 3 c.121A>C r.(?) p.(Met41Leu)
+/. 3 c.121A>C r.(?) p.(Met41Leu)
+/. - c.121A>C r.(?) p.(Met41Leu)
+/. - c.121A>G r.(?) p.(Met41Val)
+/. 3 c.121A>G r.(?) p.(Met41Val)
+/. 3 c.121A>G r.(?) p.(Met41Val)
+/. 3 c.121A>G r.(?) p.(Met41Val)
+/. 3 c.121A>G r.(?) p.(Met41Val)
+/. 3 c.121A>G r.(?) p.(Met41Val)
+/. - c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. 3 c.122T>C r.(?) p.(Met41Thr)
+/. - c.122T>C r.(?) p.(Met41Thr)
+/. - c.122T>C r.(?) p.(Met41Thr)
-?/. - c.147C>T r.(?) p.(Asp49=)
-?/. - c.153C>T r.(?) p.(Asp51=)
?/. - c.176+13A>G r.(=) p.(=)
?/. - c.176+13A>G r.(=) p.(=)
-?/. - c.206G>A r.(?) p.(Arg69Gln)
?/. - c.334C>T r.(?) p.(Leu112Phe)
?/. - c.480+344dup r.(=) p.(=)
-?/. 6 c.488T>C c.(488u>c) p.(Val163Ala)
?/. - c.574C>T r.(?) p.(Arg192Trp)
?/. - c.575G>A r.(?) p.(Arg192Gln)
?/. - c.622C>T r.(?) p.(Leu208Phe)
-?/. - c.648A>G r.(?) p.(Pro216=)
-?/. - c.649C>T r.(?) p.(Leu217Phe)
?/. - c.679-33C>G r.(=) p.(=)
?/. - c.679-33C>G r.(=) p.(=)
-/. - c.679-33C>G r.(=) p.(=)
-?/. - c.732C>T r.(?) p.(Ser244=)
?/. - c.811+9C>G r.(=) p.(=)
?/. - c.811+9C>G r.(=) p.(=)
-/. - c.811+9C>G r.(=) p.(=)
-/. - c.811+9C>G r.(=) p.(=)
-/. - c.811+9C>G r.(=) p.(=)
?/. - c.851C>G r.(?) p.(Ser284Cys)
?/. - c.903T>G r.(?) p.(Ile301Met)
-?/. - c.910-19A>C r.(=) p.(=)
-?/. - c.954G>A r.(?) p.(Thr318=)
-?/. - c.965A>G r.(?) p.(Lys322Arg)
?/. - c.1014G>C r.(?) p.(Gln338His)
?/. - c.1042C>T r.(?) p.(Arg348Trp)
?/. - c.1057-56del r.(=) p.(=)
?/. - c.1057-56del r.(=) p.(=)
?/. - c.1057-53del r.(=) p.(=)
?/. - c.1057-53del r.(=) p.(=)
-?/. - c.1077A>C r.(?) p.(Val359=)
-?/. - c.1137C>T r.(?) p.(Asp379=)
-?/. - c.1149C>T r.(?) p.(Ile383=)
-?/. - c.1242C>T r.(?) p.(Ser414=)
?/. 13 c.1242C>T r.(?) p.(=)
?/. 13 c.1296C>T r.(?) p.(=)
?/. - c.1340G>A r.(?) p.(Arg447His)
?/. - c.1340G>A r.(?) p.(Arg447His)
-/. - c.1340G>A r.(?) p.(Arg447His)
-/. - c.1340G>A r.(?) p.(Arg447His)
-/. - c.1340G>A r.(?) p.(Arg447His)
-?/. - c.1486G>A r.(?) p.(Glu496Lys)
-?/. - c.1486G>A r.(?) p.(Glu496Lys)
?/. - c.1575G>A r.(?) p.(Thr525=)
?/. - c.1575+67_1575+68dup r.(=) p.(=)
?/. - c.1575+68dup r.(=) p.(=)
?/. - c.1576-161G>A r.(=) p.(=)
?/. - c.1576-161G>A r.(=) p.(=)
-?/. - c.1610G>A r.(?) p.(Arg537His)
?/. - c.1630C>T r.(?) p.(Arg544Trp)
-?/. - c.1702C>G r.(?) p.(Leu568Val)
-/. - c.1702C>G r.(?) p.(Leu568Val)
-/. - c.1702C>G r.(?) p.(Leu568Val)
-/. - c.1702C>G r.(?) p.(Leu568Val)
+?/. - c.1731C>T r.(=) p.(=)
+/. - c.1731C>T r.(=) p.(=)
-/. - c.1742-18G>A r.(=) p.(=)
-/. - c.1742-11G>C r.(=) p.(=)
-?/. - c.1791G>A r.(?) p.(Glu597=)
-/. - c.2004-13C>T r.(=) p.(=)
-/. - c.2037G>A r.(?) p.(Leu679=)
?/. - c.2168G>A r.(?) p.(Arg723Gln)
-/. - c.2220G>A r.(?) p.(Pro740=)
-/. - c.2376G>A r.(?) p.(Gln792=)
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