Transcript #00020028 (NM_005633.3, SOS1 gene)

Transcript name son of sevenless homolog 1 (Drosophila)
Gene name SOS1 (son of sevenless homolog 1 (Drosophila))
Chromosome 2
Transcript - NCBI ID NM_005633.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005624.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

286 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/? ? c.? r.(?) p.?
?/. - c.64C>G r.(?) p.Leu22Val
-?/. - c.87+10A>G r.(=) p.(=)
-?/. - c.109A>G r.(?) p.(Thr37Ala)
+/? 2 c.109A>G r.(?) p.(Thr37Ala)
-?/. - c.109A>G r.(?) p.(Thr37Ala)
?/. - c.137A>T r.(?) p.(Gln46Leu)
?/. - c.169A>T r.(?) p.(Asn57Tyr)
-/. - c.195A>C r.(?) p.(Arg65=)
-/. - c.195A>C r.(?) p.(Arg65=)
-?/. - c.213+14_213+16del r.(=) p.(=)
?/? 3 c.233T>G r.(?) p.(Phe78Cys)
-/. - c.233T>G r.(?) p.(Phe78Cys)
?/. - c.236C>G r.(?) p.(Pro79Arg)
-?/. - c.283G>A r.(?) p.(Glu95Lys)
+/? 3 c.305C>G r.(?) p.(Pro102Arg)
+?/. - c.305C>G r.(?) p.(Pro102Arg)
+?/. - c.322G>A r.(?) p.(Glu108Lys)
+/+ 3 c.322G>A r.(?) p.(Glu108Lys)
+/? 3 c.322G>A r.(?) p.(Glu108Lys)
+/? 3 c.322G>A r.(?) p.(Glu108Lys)
+?/. - c.323A>G r.(?) p.(Glu108Gly)
+/+? 3 c.335C>G r.(?) p.(Pro112Arg)
-?/. - c.345+7C>T r.(=) p.(=)
-?/. - c.345+12_345+13dup r.(=) p.(=)
-/. - c.345+15C>T r.(=) p.(=)
-/. - c.345+15C>T r.(=) p.(=)
+/. - c.508A>G r.(?) p.(Lys170Glu)
+/+ 4 c.508A>G r.(?) p.(Lys170Glu)
+/? 4 c.508A>G r.(?) p.(Lys170Glu)
+?/. - c.508A>G r.(?) p.(Lys170Glu)
+/. - c.508A>G r.(?) p.(Lys170Glu)
-?/. - c.511-18A>G r.(=) p.(=)
+?/. - c.512T>G r.(?) p.(Val171Gly)
-?/. - c.551A>G r.(?) p.(Asn184Ser)
-?/. - c.570C>T r.(?) p.(Asp190=)
-/. - c.570C>T r.(?) p.(Asp190=)
-?/. - c.570C>T r.(?) p.(Asp190=)
?/. - c.571G>A r.(?) p.(Glu191Lys)
?/. - c.571G>A r.(?) p.(Glu191Lys)
-?/. - c.698A>G r.(?) p.(Asn233Ser)
-/. - c.749T>C r.(?) p.(Val250Ala)
?/. - c.755T>C r.(?) p.(Ile252Thr)
+/+? 6 c.755T>C r.(?) p.(Ile252Thr)
+?/? 6 c.755T>C r.(?) p.(Ile252Thr)
+/+ 6 c.797C>A r.(?) p.(Thr266Lys)
+/? 6 c.797C>A r.(?) p.(Thr266Lys)
+/? 6 c.797C>A r.(?) p.(Thr266Lys)
+/. - c.797C>A r.(?) p.(Thr266Lys)
+/. - c.797C>A r.(?) p.(Thr266Lys)
-?/. - c.798A>C r.(?) p.(Thr266=)
?/. - c.800_811del r.(?) p.(Val267_Thr270del)
+/+ 6 c.806T>C r.(?) p.(Met269Thr)
+/? 6 c.806T>C r.(?) p.(Met269Thr)
+/. - c.806T>C r.(?) p.(Met269Thr)
+/+ 6 c.806T>G r.(?) p.(Met269Arg)
+/? 6 c.806T>G r.(?) p.(Met269Arg)
+/? 6 c.806T>G r.(?) p.(Met269Arg)
+/? 6 c.806T>G r.(?) p.(Met269Arg)
+/? 6 c.806T>G r.(?) p.(Met269Arg)
+/. - c.806T>G r.(?) p.(Met269Arg)
-?/. - c.821G>T r.(?) p.(Ser274Ile)
+/? 7 c.925G>T r.(?) p.(Asp309Tyr)
+/? 7 c.925G>T r.(?) p.(Asp309Tyr)
-?/. - c.929G>A r.(?) p.(Arg310His)
?/. - c.985G>A r.(?) p.(Glu329Lys)
?/. - c.1007A>G r.(?) p.(Gln336Arg)
+/? 8 c.1010A>G r.(?) p.(Tyr337Cys)
-/. - c.1018C>T r.(?) p.(Pro340Ser)
-?/. - c.1018C>T r.(?) p.(Pro340Ser)
-?/. - c.1055A>G r.(?) p.(His352Arg)
-?/. - c.1066C>A r.(?) p.(Leu356Ile)
-?/. - c.1074+5G>C r.spl? p.?
-/. - c.1074+5G>C r.spl? p.?
-?/. - c.1074+5G>C r.spl? p.?
-?/. - c.1074+5G>C r.spl? p.?
-/. - c.1074+5G>C r.spl? p.?
+?/. - c.1132A>G r.(?) p.(Thr378Ala)
-?/. - c.1203-20T>C r.(=) p.(=)
-/. - c.1203-20T>C r.(=) p.(=)
-/. - c.1203-20T>C r.(=) p.(=)
-/. - c.1230G>A r.(=) p.(=)
-?/. - c.1230G>A r.(?) p.(Gln410=)
+/+? 10 c.1264A>G r.(?) p.(Met422Val)
+/+? 10 c.1270G>A r.(?) p.(Glu424Lys)
?/. - c.1277A>C r.(?) p.(Gln426Pro)
+/+ 10 c.1281_1289del r.(?) p.(Lys427_Asp430delinsAsn)
?/. - c.1285A>G r.(?) p.(Ile429Val)
+?/. - c.1294T>A r.(?) p.(Trp432Arg)
+/+ 10 c.1294T>C r.(?) p.(Trp432Arg)
+/? 10 c.1294T>C r.(?) p.(Trp432Arg)
+/? 10 c.1294T>C r.(?) p.(Trp432Arg)
+/? 10 c.1294T>C r.(?) p.(Trp432Arg)
+/. - c.1294T>C r.(?) p.(Trp432Arg)
+/+ 10 c.1294_1299del r.(?) p.(Trp432_Glu433del)
+/. - c.1297G>A r.(?) p.(Glu433Lys)
+/+ 10 c.1297G>A r.(?) p.(Glu433Lys)
+/? 10 c.1297G>A r.(?) p.(Glu433Lys)
+/? 10 c.1297G>A r.(?) p.(Glu433Lys)
+/? 10 c.1297G>A r.(?) p.(Glu433Lys)
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