Transcript #00006195 (NM_000790.3, DDC gene)

Transcript name transcript variant 2
Gene name DDC (dopa decarboxylase (aromatic L-amino acid decarboxylase))
Chromosome 7
Transcript - NCBI ID NM_000790.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000781.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

93 entries on 1 page. Showing entries 1 - 93.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.2T>C r.(?) p.0?
-?/. - c.7G>A r.(?) p.(Ala3Thr)
-/. - c.49= r.(=) p.(Val17=)
-/. - c.49= r.(=) p.(Val17=)
+?/. - c.73G>A r.(?) p.(Glu25Lys)
-?/. - c.96C>T r.(?) p.(Asp32=)
-/. - c.96C>T r.(?) p.(Asp32=)
-?/. - c.96C>T r.(?) p.(Asp32=)
+/. - c.106G>A r.(?) p.(Gly36Arg)
?/. - c.121C>A r.(?) p.(Leu41Met)
?/. - c.121C>A r.(?) p.(Leu41Met)
-?/. - c.129T>C r.(?) p.(Pro43=)
-?/. - c.133G>A r.(?) p.(Ala45Thr)
+/. - c.170T>C r.(?) p.(Ile57Thr)
+/. - c.175G>A r.(?) p.(Asp59Asn)
+/. - c.175G>A r.(?) p.(Asp59Asn)
-?/. - c.178G>A r.(?) p.(Val60Ile)
+/. - c.179T>C r.(?) p.(Val60Ala)
+/. - c.179T>C r.(?) p.(Val60Ala)
+/. - c.179T>C r.(?) p.(Val60Ala)
-?/. - c.207G>A r.(?) p.(Thr69=)
-/. - c.234C>T r.(?) p.(Ala78=)
-?/. - c.261G>A r.(?) p.(Pro87=)
+/. - c.277A>G r.(?) p.(Met93Val)
+/. - c.299G>C r.(?) p.(Cys100Ser)
+/. - c.304G>A r.(?) p.(Gly102Ser)
?/. - c.304G>T r.(?) p.(Gly102Cys)
?/. - c.361T>C r.(?) p.(Trp121Arg)
+?/. - c.367G>A r.(?) p.(Gly123Arg)
?/. - c.435+6G>T r.(=) p.(=)
-/. - c.436-16C>T r.(=) p.(=)
-/. - c.436-16C>T r.(=) p.(=)
-/. - c.436-16C>T r.(=) p.(=)
-/. - c.436-12T>C r.(=) p.(=)
-?/. - c.436-12T>C r.(=) p.(=)
+?/. - c.446G>C r.(?) p.(Ser149Thr)
+/. - c.478C>G r.(?) p.(Arg160Gly)
?/. - c.565G>C r.(?) p.(Asp189His)
+/. - c.565G>T r.(?) p.(Asp189Tyr)
+?/. - c.571-3C>G r.spl? p.?
-?/. - c.629C>T r.(?) p.(Pro210Leu)
-?/. - c.629C>T r.(?) p.(Pro210Leu)
-?/. - c.629C>T r.(?) p.(Pro210Leu)
-?/. - c.649A>G r.(?) p.(Met217Val)
-/. - c.649A>G r.(?) p.(Met217Val)
-?/. - c.649A>G r.(?) p.(Met217Val)
?/. - c.679G>C r.(?) p.(Glu227Gln)
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
+/. - c.714+4A>T r.spl p.?
?/. - c.715A>T r.(?) p.(Met239Leu)
-?/. - c.715A>T r.(?) p.(Met239Leu)
-?/. - c.717G>T r.(?) p.(Met239Ile)
?/. - c.876G>A r.(?) p.(Glu292=)
+/. - c.899del r.(?) p.(Asn300IlefsTer8)
-?/. - c.944+2399G>A r.(=) p.(=)
+/. - c.1021+1G>A r.spl p.?
+/. - c.1040G>A r.(?) p.(Arg347Gln)
-/. - c.1041+8G>A r.(=) p.(=)
+/. - c.1140+2T>C r.spl? p.?
?/. - c.1226T>C r.(?) p.(Val409Ala)
+/. - c.1234C>T r.(?) p.(Arg412Trp)
+/. - c.1234C>T r.(?) p.(Arg412Trp)
+/. - c.1234C>T r.(?) p.(Arg412Trp)
+/. - c.1234C>T r.(?) p.(Arg412Trp)
+/. - c.1234C>T r.(?) p.(Arg412Trp)
+/. - c.1234C>T r.(?) p.(Arg412Trp)
+/. - c.1297dup r.(?) p.(Ile433Asnfs*60)
+/. - c.1297dup r.(?) p.(Ile433Asnfs*60)
+/. - c.1312T>C r.(?) p.(Cys438Arg)
+/. - c.1339C>T r.(?) p.(Arg447Cys)
+?/. - c.1379T>G r.(?) p.(Val460Gly)
-?/. - c.1385G>A r.(?) p.(Arg462Gln)
-/. - c.1385G>A r.(?) p.(Arg462Gln)
-?/. - c.1385G>A r.(?) p.(Arg462Gln)
-?/. - c.1415C>T r.(?) p.(Ala472Val)
+?/. - c.1426C>T r.(?) p.(Arg476Ter)
?/. - c.1426C>T r.(?) p.(Arg476Ter)
-?/. - c.1435A>G r.(?) p.(Arg479Gly)
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