Transcript #00024144 (NM_000053.3, ATP7B gene)

Transcript name transcript variant 1
Gene name ATP7B (ATPase, Cu++ transporting, beta polypeptide)
Chromosome 13
Transcript - NCBI ID NM_000053.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000044.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

426 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-1107C>G r.(?) p.(=)
+?/. - c.-408T>C r.(?) p.(=)
-/. - c.-75C>A r.(?) p.(=)
-/. - c.-75C>A r.(?) p.(=)
-/. - c.-75C>A r.(?) p.(=)
+/. - c.19_20del r.(?) p.(Gln7AspfsTer14)
-?/. - c.19_20del r.(?) p.(Pro2_Met33del)
-?/. - c.19_20del r.(?) p.(Pro2_Met33del)
-?/. - c.29C>T r.(?) p.(Ala10Val)
+/. - c.51+4A>T r.spl? p.?
-?/. - c.92C>T r.(?) p.(Pro31Leu)
-?/. - c.98T>C r.(?) p.(Met33Thr)
-?/. - c.98T>C r.(?) p.(Met33Thr)
+?/. - c.122A>G r.(?) p.(Asn41Ser)
-?/. - c.226A>G r.(?) p.(Ile76Val)
-?/. - c.278T>G r.(?) p.(Leu93Arg)
-?/. - c.325C>T r.(?) p.(Leu109=)
-?/. - c.325C>T r.(?) p.(Leu109=)
?/. - c.406A>G r.(?) p.(Arg136Gly)
-?/. - c.437A>G r.(?) p.(Lys146Arg)
-?/. - c.445G>A r.(?) p.(Val149Met)
?/. - c.459C>T r.(?) p.(Thr153=)
?/. - c.482T>C r.(?) p.(Ile161Thr)
?/. - c.511G>T r.(?) p.(Val171Leu)
-?/. - c.550G>A r.(?) p.(Val184Ile)
-?/. - c.662C>A r.(?) p.(Pro221Gln)
-?/. - c.677G>A r.(?) p.(Arg226Gln)
+?/. - c.813C>A r.(?) p.(Cys271Ter)
+/. - c.813C>A r.(?) p.(Cys271Ter)
+/. - c.813C>A r.(?) p.(Cys271Ter)
+/. - c.813C>A r.(?) p.(Cys271Ter)
+?/. - c.865C>T r.(?) p.(Gln289Ter)
-?/. - c.1049C>T r.(?) p.(Pro350Leu)
?/. - c.1099G>A r.(?) p.(Gly367Ser)
?/. - c.1121T>G r.(?) p.(Val374Gly)
-/. - c.1122C>G r.(?) p.(Val374=)
?/. - c.1122C>G r.(?) p.(Val374=)
?/. - c.1145C>G r.(?) p.(Ser382Cys)
?/. - c.1145C>G r.(?) p.(Ser382Cys)
-?/. - c.1153G>A r.(?) p.(Glu385Lys)
-/. - c.1216T>G r.(?) p.(Ser406Ala)
-/. - c.1216T>G r.(?) p.(Ser406Ala)
-/. - c.1216T>G r.(?) p.(Ser406Ala)
-/. - c.1216T>G r.(?) p.(Ser406Ala)
-/. - c.1216T>G r.(?) p.(Ser406Ala)
-/. - c.1216T>G r.(?) p.(Ser406Ala)
-?/. - c.1230A>G r.(?) p.(Pro410=)
-?/. - c.1230A>G r.(?) p.(Pro410=)
+?/. - c.1252G>T r.(?) p.(Glu418*)
-?/. - c.1278C>T r.(?) p.(Val426=)
-/. - c.1278C>T r.(?) p.(Val426=)
-?/. - c.1278C>T r.(?) p.(Val426=)
-?/. - c.1278C>T r.(?) p.(Val426=)
+?/. - c.1285+5G>T r.spl? p.?
?/. - c.1285+5G>T r.spl? p.?
+?/. - c.1285+5G>T r.spl? p.?
-?/. - c.1291T>C r.(?) p.(Cys431Arg)
-/. - c.1366G>C r.(?) p.(Val456Leu)
-/. - c.1366G>C r.(?) p.(Val456Leu)
-/. - c.1366G>C r.(?) p.(Val456Leu)
-/. - c.1366G>C r.(?) p.(Val456Leu)
-/. - c.1366G>C r.(?) p.(Val456Leu)
-?/. - c.1543+13C>T r.(=) p.(=)
-?/. - c.1544-12T>C r.(=) p.(=)
?/. - c.1555G>A r.(?) p.(Val519Met)
?/. - c.1555G>A r.(?) p.(Val519Met)
-?/. - c.1555G>A r.(?) p.(Val519Met)
?/. - c.1555G>A r.(?) p.(Val519Met)
-?/. - c.1607T>C r.(?) p.(Val536Ala)
-?/. - c.1607T>C r.(?) p.(Val536Ala)
-?/. - c.1620C>T r.(?) p.(Leu540=)
-?/. - c.1620C>T r.(?) p.(Leu540=)
-?/. - c.1620C>T r.(?) p.(Leu540=)
-?/. 4 c.1620C>T r.(=) p.(Leu540=)
+?/. - c.1646T>C r.(?) p.(Leu549Pro)
-?/. - c.1678G>A r.(?) p.(Ala560Thr)
?/. - c.1699G>T r.(?) p.(Glu567Ter)
+/. - c.1707+1G>A r.spl? p.?
-?/. - c.1707+9T>C r.(=) p.(=)
-/. - c.1707+9T>C r.(=) p.(=)
?/. - c.1707+17C>A r.(=) p.(=)
?/. - c.1707+17C>T r.(=) p.(=)
-?/. - c.1707+102C>T r.(=) p.(=)
+/. - c.1708-1G>C r.spl? p.?
+/. - c.1708-1G>C r.spl? p.?
?/. - c.1727C>T r.(?) p.(Ala576Val)
-?/. - c.1728G>A r.(?) p.(Ala576=)
-/. - c.1728G>A r.(?) p.(Ala576=)
+?/. - c.1774A>T r.(?) p.(Ile592Phe)
+?/. - c.1847G>A r.(?) p.(Arg616Gln)
+?/. - c.1847G>A r.(?) p.(Arg616Gln)
?/. - c.1870-2A>G r.spl? p.?
?/. - c.1877G>C r.(?) p.(Gly626Ala)
-?/. - c.1883A>G r.(?) p.(His628Arg)
+?/. - c.1910del r.(?) p.(Asn637Thrfs*11)
-?/. 6 c.1911C>T r.(?) p.(Asn637=)
+/. - c.1922T>C r.(?) p.(Leu641Ser)
?/. - c.1922T>C r.(?) p.(Leu641Ser)
-?/. - c.1965G>A r.(?) p.(Leu655=)
?/. - c.1969A>C r.(?) p.(Ser657Arg)
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