Transcript #00000277 (NM_000481.3, AMT gene)

Transcript name transcript variant 1
Gene name AMT (aminomethyltransferase)
Chromosome 3
Transcript - NCBI ID NM_000481.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000472.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-3530C>T r.(?) p.(=)
-?/. - c.-2527A>G r.(?) p.(=)
?/. - c.-76G>C r.(?) p.(=)
+/. 1 c.-66A>G r.(=) p.(=)
+/. 1 c.-64A>G r.(=) p.(=)
+/. 1 c.-58C>T r.(=) p.(=)
+/. 1 c.-58C>T r.(=) p.(=)
?/? 1 c.-55C>T r.(?) p.(=)
+/. 1 c.-55C>T r.(=) p.(=)
+/. 1 c.-55C>T r.(=) p.(=)
+/. 1 c.2T>C r.(?) p.(Met1?)
+/. 1 c.2T>C r.(?) p.(Met1?)
+/. 1 c.2T>C r.(?) p.(Met1?)
+/. 1 c.2T>C r.(?) p.(Met1?)
+/. 1 c.2T>C r.(?) p.(Met1?)
+/. 1 c.2T>C r.(?) p.(Met1?)
+/. 1 c.2T>C r.(?) p.(Met1?)
+/. 1 c.4C>T r.(?) p.(Gln2*)
+/. 1 c.14dup r.(?) p.(Ser6Lysfs*22)
+/. 1 c.14dup r.(?) p.(Ser6Lysfs*22)
+/. - c.15_18del r.(?) p.(Ser6TrpfsTer89)
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89)
+/. 1 c.15_18del r.(?) p.(Ser6Trpfs*89)
+/. 1 c.16del r.(?) p.(Ser6Valfs*90)
+/. 1 c.16del r.(?) p.(Ser6Valfs*90)
+/+ 1 c.59del r.(?) p.(Pro20Argfs*76)
+/+ 1 c.61del r.(?) p.(Ala21Profs*75)
+/+ 1 c.63del r.(?) p.(Leu22Cysfs*74)
?/. - c.101G>A r.(?) p.(Arg34His)
+/+ 2 c.125A>G r.(125a>g) p.(His42Arg)
+/+ 2 c.139G>A r.(139g>a) p.(Gly47Arg)
+/. 2 c.139G>A r.(?) p.(Gly47Arg)
+/. 2 c.139G>A r.(?) p.(Gly47Arg)
+/. 2 c.139G>A r.(?) p.(Gly47Arg)
+/. 2 c.139G>A r.(?) p.(Gly47Arg)
+/+ 2 c.139G>T r.(139g>u) p.(Gly47Trp)
+/+ 2 c.148del r.(?) p.(Val50Trpfs*46)
+/. 2 c.178_181del r.(?) p.(Gln60Thrfs*35)
+/. 2 c.178_181del r.(?) p.(Gln60Thrfs*35)
?/. - c.203C>T r.(?) p.(Ser68Leu)
+/+ 2 c.212A>C r.(212a>c) p.(His71Pro)
+/. 2 c.212A>C r.(?) p.(His71Pro)
+/. 2 c.212A>C r.(?) p.(His71Pro)
+/+ 2 c.217C>T r.(217c>u) p.(Arg73Cys)
+/. 2 c.217C>T r.(?) p.(Arg73Cys)
+/. 2 c.217C>T r.(?) p.(Arg73Cys)
+/. 2 c.217C>T r.(?) p.(Arg73Cys)
+/. 2 c.217C>T r.(?) p.(Arg73Cys)
+/. 2 c.217C>T r.(?) p.(Arg73Cys)
+/. 2 c.217C>T r.(?) p.(Arg73Cys)
+/. 2 c.217C>T r.(?) p.(Arg73Cys)
+/. 2 c.217C>T r.(?) p.(Arg73Cys)
+/+ 2 c.230C>T r.(230c>u) p.(Ser77Leu)
+/. 2 c.230C>T r.(?) p.(Ser77Leu)
+/. 2 c.230C>T r.(?) p.(Ser77Leu)
+/. 2 c.230C>T r.(?) p.(Ser77Leu)
+/. 2 c.230C>T r.(?) p.(Ser77Leu)
+/. 2 c.248A>G r.(?) p.(His83Arg)
+/. 2 c.248A>G r.(?) p.(His83Arg)
+/. 2 c.248A>G r.(?) p.(His83Arg)
+/. 2 c.248A>G r.(?) p.(His83Arg)
-?/. - c.258+242A>G r.(=) p.(=)
-?/. - c.259-109T>G r.(=) p.(=)
+/+ 2i c.259-1G>C r.spl? p.?
+/. 2i c.259-1G>C r.spl? p.(Thr87_Gln113del)
+/. 2i c.259-1G>C r.spl? p.?
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+?/. 3 c.280C>T r.280c>u p.Arg94Trp
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.280C>T r.(?) p.(Arg94Trp)
+/. 3 c.293T>G r.(?) p.(Met98Arg)
+/. 3 c.293T>G r.(?) p.(Met98Arg)
?/. - c.317T>C r.(?) p.(Ile106Thr)
+/. 3 c.317T>C r.(?) p.(Ile106Thr)
+/. 3 c.317T>C r.(?) p.(Ile106Thr)
+/. 3 c.317T>C r.(?) p.(Ile106Thr)
+/. 3 c.317T>C r.(?) p.(Ile106Thr)
+/. 3 c.317T>C r.(?) p.(Ile106Thr)
+/. - c.317T>C r.(?) p.(Ile106Thr)
+/. 3i c.340-1G>A r.spl p.(Gly114_GlyLeun157del)
+/. 3i c.340-1G>A r.spl p.?
+/. 4 c.350C>T r.(?) p.(Ser117Leu)
+/. 4 c.350C>T r.(?) p.(Ser117Leu)
+/. 4 c.350C>T r.(?) p.(Ser117Leu)
+/. 4 c.350C>T r.(?) p.(Ser117Leu)
-?/. - c.354G>A r.(?) p.(Leu118=)
-?/. - c.354G>A r.(?) p.(Leu118=)
+/. 4 c.395_400del r.(?) p.(Val132_Asn134delinsAsp)
+/. 4 c.434A>T r.(?) p.(Asn145Ile)
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