Transcript #00000007 (NM_021120.3, DLG3 gene)

Transcript name discs, large homolog 3 (Drosophila), transcript variant 1
Gene name DLG3 (discs, large homolog 3 (Drosophila))
Chromosome X
Transcript - NCBI ID NM_021120.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_066943.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

83 entries on 1 page. Showing entries 1 - 83.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. 1 c.-8dup r.(?) p.(=)
+/. 1 c.-8dup r.(=) p.(=)
?/. - c.5A>C r.(?) p.(His2Pro)
?/. - c.5A>C r.(?) p.(His2Pro)
?/. - c.91G>A r.(?) p.(Gly31Ser)
./. - c.92del r.(?) p.(Gly31Alafs*90)
+/. - c.92del r.(?) p.(Gly31AlafsTer90)
-?/. - c.126T>A r.(?) p.(Gly42=)
-?/. - c.142A>G r.(?) p.(Ser48Gly)
?/. - c.151T>G r.(?) p.(Tyr51Asp)
-?/. - c.237C>T r.(?) p.(Gly79=)
+?/. - c.251C>T r.(?) p.(Pro84Leu)
-?/. - c.273G>A r.(?) p.(Pro91=)
?/? 1 c.304G>A r.(?) p.(Gly102Ser)
-?/. - c.304G>A r.(?) p.(Gly102Ser)
?/. - c.304G>A r.(?) p.(Gly102Ser)
+?/. - c.353A>G r.(?) p.(Glu118Gly)
+/. - c.357+1G>C r.spl p.?
-/. - c.358-300A>G r.(=) p.(=)
-?/. - c.409-4G>T r.spl? p.?
-?/. - c.409-4G>T r.spl? p.?
?/. - c.409-4G>T r.spl? p.?
-?/? 3 c.429C>T r.(?) p.(=)
+?/. - c.491A>T r.(?) p.(Lys164Met)
-?/. - c.597G>A r.(?) p.(Ala199=)
-?/. - c.634T>C r.(?) p.(Leu212=)
+/. 4 c.649C>T r.(?) p.(Arg217*)
-?/. - c.703+4C>A r.spl? p.?
-?/. - c.703+4C>T r.spl? p.?
?/. - c.764T>A r.(?) p.(Ile255Asn)
?/. - c.803A>T r.(?) p.(Lys268Met)
+?/. - c.840+1G>A r.spl p.?
+/. - c.859C>T r.(?) p.(Gln287Ter)
+?/. - c.985+1G>A r.spl? p.?
+/. - c.985+1G>C r.spl p.?
./. - c.1092dup r.(?) p.(Thr365Hisfs*13)
-/. - c.1145+586G>C r.(=) p.(=)
?/. - c.1145+586G>C r.(=) p.(=)
?/. - c.1145+586G>C r.(=) p.(=)
-/. - c.1145+643G>C r.(=) p.(=)
?/. - c.1145+643G>C r.(=) p.(=)
?/. - c.1145+730G>A r.(=) p.(=)
?/. - c.1145+779T>C r.(=) p.(=)
?/. - c.1280G>T r.(?) p.(Arg427Leu)
-?/. - c.1302+8G>A r.(=) p.(=)
?/. 8i c.1302+168T>C r.(?) p.(=)
?/. 8i c.1302+168T>C r.(?) p.(=)
?/. 8i c.1302+168T>C r.(?) p.(=)
?/. - c.1361G>A r.(?) p.(Arg454Gln)
+/. - c.1369del r.(?) p.(Gln457Serfs*28)
?/. - c.1406-277C>T r.(=) p.(=)
?/. - c.1406-277C>T r.(=) p.(=)
?/. - c.1493C>T r.(?) p.(Thr498Ile)
-?/. - c.1518C>G r.(?) p.(Val506=)
?/. - c.1520+4A>G r.spl? p.?
?/. - c.1595T>C r.(?) p.(Ile532Thr)
+/. - c.1720C>T r.(?) p.(Arg574Ter)
+/. - c.1720C>T r.(?) p.(Arg574Ter)
?/. - c.1751C>T r.(?) p.(Thr584Met)
?/. - c.1773+741dup r.(=) p.(=)
?/. - c.1773+795C>T r.(=) p.(=)
?/. - c.1819+1424G>C r.(=) p.(=)
?/. - c.1819+1424G>C r.(=) p.(=)
?/. - c.1820-1340A>G r.(=) p.(=)
?/. - c.1820-56C>T r.(=) p.(=)
?/. - c.1820-56C>T r.(=) p.(=)
?/. - c.1870+113_1870+116del r.(=) p.(=)
?/. - c.1870+113_1870+116del r.(=) p.(=)
?/. - c.1870+114_1870+117del r.(=) p.(=)
?/. - c.1870+114_1870+117del r.(=) p.(=)
-?/. - c.1899G>A r.(?) p.(Leu633=)
?/. - c.1939G>A r.(?) p.(Glu647Lys)
?/. - c.1973-152C>T r.(=) p.(=)
?/. - c.1973-152C>T r.(=) p.(=)
+/. - c.1987C>T r.(?) p.(Arg663Ter)
?/. - c.2288C>T r.(?) p.(Ala763Val)
?/. - c.2393A>G r.(?) p.(Lys798Arg)
?/. - c.*1341dup r.(=) p.(=)
?/. 19 c.*1975G>A r.(?) p.(=)
?/. 19 c.*1975G>A r.(?) p.(=)
?/. 19 c.*1975G>A r.(?) p.(=)
?/. - c.*2612G>T r.(=) p.(=)
?/. - c.*2612G>T r.(=) p.(=)
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