Transcript #00013951 (NM_002439.4, MSH3 gene)

Transcript name mutS homolog 3 (E. coli)
Gene name MSH3 (mutS homolog 3 (E. coli))
Chromosome 5
Transcript - NCBI ID NM_002439.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_002430.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

99 entries on 1 page. Showing entries 1 - 99.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-20807C>T r.(?) p.(=)
-?/. - c.-16821T>A r.(?) p.(=)
?/. - c.-16815del r.(?) p.(=)
-?/. - c.-16797T>G r.(?) p.(=)
-?/. - c.-5274G>A r.(?) p.(=)
-?/. - c.-674A>C r.(?) p.(=)
-?/. - c.-320G>C r.(?) p.(=)
+?/. - c.-299C>T r.(?) p.(=)
-/. - c.21G>A r.(?) p.(Ala7=)
-?/. - c.21G>A r.(?) p.(Ala7=)
-/. - c.21G>A r.(?) p.(Ala7=)
-?/. - c.129A>G r.(?) p.(Ala43=)
-?/. - c.143A>C r.(?) p.(Asp48Ala)
?/. - c.146C>G r.(?) p.(Pro49Arg)
-?/. - c.162T>C r.(?) p.(Ala54=)
-?/. - c.162_170del r.(?) p.(Ala60_Ala62del)
-?/. - c.162_170dup r.(?) p.(Ala60_Ala62dup)
-/. - c.162_179del r.(?) p.(Ala57_Ala62del)
-/. - c.173C>T r.(?) p.(Ala58Val)
-/. - c.178G>C r.(?) p.(Ala60Pro)
-/. - c.178_186del r.(?) p.(Ala60_Ala62del)
-/. - c.181_189dup r.(?) p.(Ala61_Pro63dup)
-/. - c.181_189dup r.(?) p.(Ala61_Pro63dup)
-?/. - c.182_183insGCCCCCAGCGCCCCC r.(?) p.(Ala61_Ala62insProProAlaProPro)
-/. - c.186_187insGCCGCAGCGCCCGCAGCG r.(?) p.(Ala62_Pro63insAlaAlaAlaProAlaAla)
-/. - c.186_187insGCCGCAGCGCCCGCAGCG r.(?) p.(Ala62_Pro63insAlaAlaAlaProAlaAla)
-/. - c.186_187insGCCGCAGCGCCCGCAGCG r.(?) p.(Ala62_Pro63insAlaAlaAlaProAlaAla)
-?/. - c.186_187insGCCGCAGCGCCCGCAGCG r.(?) p.(Ala62_Pro63insAlaAlaAlaProAlaAla)
-/. - c.186_203dup r.(?) p.(Pro64_Pro69dup)
-/. - c.186_203dup r.(?) p.(Pro64_Pro69dup)
-/. - c.189_190insGCAGCGCCCCCAGCGCCC r.(?) p.(Pro63_Pro64insAlaAlaProProAlaPro)
-?/. - c.189_190insGCAGCGCCCGCAGCGCCC r.(?) p.(Pro63_Pro64insAlaAlaProAlaAlaPro)
./. - c.195_203del - p.(Pro67_Pro69del)
-/. - c.195_203del r.(?) p.(Pro67_Pro69del)
-/. - c.195_203del r.(?) p.(Pro67_Pro69del)
-/. - c.195_203dup r.(?) p.(Pro67_Pro69dup)
-/. - c.195_203dup r.(?) p.(Pro67_Pro69dup)
-/. - c.199_207del r.(?) p.(Pro67_Pro69del)
-/. - c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC r.(?) p.(Pro69_Ala70insProAlaProProAlaProProAlaPro)
?/. - c.215C>T r.(?) p.(Pro72Leu)
?/. 1 c.230_232dup r.(?) p.(Pro77dup)
-/. - c.235A>G r.(?) p.(Ile79Val)
+?/. - c.237+1G>C r.spl? p.?
?/. - c.287C>T r.(?) p.(Pro96Leu)
-?/. - c.291T>G r.(?) p.(Val97=)
-/. - c.359-7G>A r.(=) p.(=)
-?/. - c.562C>T r.(?) p.(Arg188Cys)
+/. - c.579+1G>C r.spl? p.?
-?/. - c.670C>T r.(?) p.(Arg224Trp)
-/. - c.693G>A r.(?) p.(Pro231=)
-?/. - c.792+7C>T r.(=) p.(=)
-?/. - c.792+8G>A r.(=) p.(=)
-?/. - c.792+8G>A r.(=) p.(=)
?/. - c.1019T>C r.(?) p.(Ile340Thr)
+?/. 7 c.1035del r.(?) p.(Leu347*)
+/. 7 c.1148del r.(?) p.(Lys383Argfs*32)
-?/. - c.1174-20A>G r.(=) p.(=)
-?/. - c.1394A>G r.(?) p.(Tyr465Cys)
?/. - c.1394A>G r.(?) p.(Tyr465Cys)
?/. - c.1394A>G r.(?) p.(Tyr465Cys)
?/. - c.1396A>G r.(?) p.(Ser466Gly)
-?/. - c.1453+15T>C r.(=) p.(=)
+/. - c.1473dup r.(?) p.(Ile492HisfsTer3)
-?/. - c.1503C>T r.(?) p.(Cys501=)
-?/. - c.1523A>G r.(?) p.(Lys508Arg)
-/. - c.1567G>A r.(?) p.(Glu523Lys)
-/. - c.1571A>C r.(?) p.(Asn524Thr)
-?/. - c.1655C>T r.(?) p.(Thr552Ile)
-?/. - c.1817G>A r.(?) p.(Ser606Asn)
-/. - c.1897-8A>G r.(=) p.(=)
-?/. - c.1992G>A r.(?) p.(Gln664=)
?/. - c.2041C>T r.(?) p.(Pro681Ser)
-?/. - c.2041C>T r.(?) p.(Pro681Ser)
?/. - c.2041C>T r.(?) p.(Pro681Ser)
?/. - c.2041C>T r.(?) p.(Pro681Ser)
-?/. - c.2254-19T>G r.(=) p.(=)
+/. - c.2319-1G>A r.spl? p.?
./. - c.2319-1G>A r.spl? p.?
+/. 16i c.2319-1G>A r.2319_2435del p.0?
-?/. - c.2436-13G>T r.(=) p.(=)
+?/. - c.2436-1G>A r.(?) p.(?)
-?/. - c.2438A>G r.(?) p.(Lys813Arg)
-?/. - c.2628A>G r.(?) p.(Gln876=)
-?/. - c.2685C>T r.(?) p.(Thr895=)
?/. 20 c.2732T>G r.(?) p.(Leu911Trp)
?/. - c.2732T>G r.(?) p.(Leu911Trp)
-?/. - c.2732T>G r.(?) p.(Leu911Trp)
-?/. - c.2732T>G r.(?) p.(Leu911Trp)
-?/. - c.2732T>G r.(?) p.(Leu911Trp)
?/. - c.2732T>G r.(?) p.(Leu911Trp)
?/. - c.2732T>G r.(?) p.(Leu911Trp)
+/. 20 c.2760del r.2760del p.Tyr921Metfs*36
?/. - c.2818G>T r.(?) p.(Gly940Cys)
-/. - c.2846A>G r.(?) p.(Gln949Arg)
-?/. - c.3000T>G r.(?) p.(Asp1000Glu)
+/. 21i c.3001-2A>C r.3001_3130del p.Val1001Argfs*16
-/. - c.3133G>A r.(?) p.(Ala1045Thr)
-?/. - c.3282A>G r.(?) p.(Glu1094=)
-?/. - c.3364T>C r.(?) p.(Trp1122Arg)
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