Transcript #00025270 (NM_000052.5, ATP7A gene)

Transcript name ATPase, Cu++ transporting, alpha polypeptide
Gene name ATP7A (ATPase, Cu++ transporting, alpha polypeptide)
Chromosome X
Transcript - NCBI ID NM_000052.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000043.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

611 entries on 7 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
+/+? _1_1i c.-160_(-22+1_-21-1){0} r.0? p.0? -
+/+? _1_1i c.-160_(-22+1_-21-1){0} r.0? p.0? -
+/+? _1_1i c.-160_(-22+1_-21-1){0} r.0? p.0? -
+/+? _1_1i c.-160_(-22+1_-21-1){0} r.0? p.0? -
+/+? _1_1i c.-160_(-22+1_-21-1){0} r.0? p.0? -
-/-? 1 c.-55C>T r.(?) p.(=) -
-?/. - c.-22+8C>G r.(=) p.(=) -
./. - c.-22+117T>C r.(=) p.(=) -
./. - c.-22+117T>C r.(=) p.(=) -
./. - c.-21-3660_1336del r.spl? p.? -
-?/. - c.-21-2631C>T r.(=) p.(=) -
-?/. - c.-21-2436A>T r.(=) p.(=) -
?/. - c.-21-2424C>G r.(=) p.(=) -
./. - c.-21-2239C>T r.(=) p.(=) -
?/. - c.-21-2154A>T r.(=) p.(=) -
?/. - c.-21-2101C>T r.(=) p.(=) -
-?/. - c.-21-2100G>A r.(=) p.(=) -
-?/. - c.-21-2061C>T r.(=) p.(=) -
./. - c.-21-2019C>T r.(=) p.(=) -
+/+? 1i_6i c.(-22+1_-21-1)_(1707+1_1708-1)del r.? p.? -
+/+? 1i_6i c.(-22+1_-21-1)_(1707+1_1708-1)del r.? p.? -
+/+? 1i_6i c.(-22+1_-21-1)_(1707+1_1708-1)del r.? p.? -
+/+? 1i_9i c.(-22+1_-21-1)_(2172+1_2173-1)del r.? p.? -
+/+? 1i_14i c.(-22+1_-21-1)_(2916+1_2917-1)del r.? p.? -
+/+? 1i_14i c.(-22+1_-21-1)_(2916+1_2917-1)dup r.? p.? -
+/+? 1i_15i c.(-22+1_-21-1)_(3111+1_3112-1)del r.? p.? -
+/+? 1i_17i c.(-22+1_-21-1)_(3511+1_3512-1)del r.? p.? -
+/+? 1i_18i c.(-22+1_-21-1)_(3658+1_3659-1)del r.? p.? -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
-/-? _1 - r.(=) p.(=) -
+/+? 10i_14i c.((2406+1_2407-1)_(2916+1_2917-1)del) r.(?) p.? -
+/+? 22i_23_ c.((4226+1_4227-1)_(*1100_*1400)del) r.? p.? -
+/+? _1_1i c.(-160_(-22+1_-21-1){0}) r.0 p.0 -
+/+? 8i c.(?) r.(?) p.= -
+/+? _1_1i c.-160_(-22+1_-21-1){0} r.0? p.0? -
-/-? 2i c.121-796GT[16_25] r.(?) p.(=) -
-/-? 5i c.1544-272CA[19_24] r.(?) p.(=) -
+/+? 18 c.3560^3561G>A r.(?) p.(Trp1187*) -
+/+? - c.? r.? p.? -
+/+? - c.? r.? p.? -
+/+? - c.? r.? p.? -
+/+? - c.? r.? p.? -
+/+? - c.? r.? p.? -
+/+? - c.? r.? p.? -
+/+? - c.? r.? p.? -
-/-? - c.? r.? p.? -
-/-? - c.? r.? p.? -
?/. - c.92G>A r.(?) p.(Gly31Glu) -
+/+? 2i_4i c.(120+1_121-1)_(1336+1_1337-1)del r.121_1336del p.? -
+/+? 2i_4i c.(120+1_121-1)_(1336+1_1337-1)del r.? p.? -
+/+? 2i_4i c.(120+1_121-1)_(1336+1_1337-1)dup r.[=,121_1336dup,611_1336dup] p.? -
+/+? 2i_5i c.(120+1_121-1)_(1543+1_1544-1)dup r.[121_1543dup,1337_1543dup] p.? -
+/+? 2i_5i c.(120+1_121-1)_(1543+1_1544-1)dup r.121_1543dup p.? -
+/+? 2i_10i c.(120+1_121-1)_(2406+1_2407-1)del r.? p.? -
+/+? 2i_10i c.(120+1_121-1)_(2406+1_2407-1)del r.? p.? -
+/+? 2i_13i c.(120+1_121-1)_(2781+1_2782-1)dup r.? p.? -
+/+? 2i_16i c.(120+1_121-1)_(3294+1_3295-1)del r.121_3294del p.? -
+/+? 2i_17i c.(120+1_121-1)_(3511+1_3512-1)dup r.? p.? -
+/+? 2i_20i c.(120+1_121-1)_(4005+1_4006-1)del r.? p.? -
+/+? 2i_23_ c.(120+1_121-1)_*3825{0} r.? p.? -
+/+? 2i_23_ c.(120+1_121-1)_*3825{0} r.? p.? -
+/+? 2i_23_ c.(120+1_121-1)_*3825{0} r.? p.? -
+/+? 2i_23_ c.(120+1_121-1)_*3825{0} r.? p.? -
-?/. - c.145A>G r.(?) p.(Thr49Ala) -
?/. - c.146C>T r.(?) p.(Thr49Ile) -
-?/. - c.168A>G r.(?) p.(Leu56=) -
?/. - c.214G>A r.(?) p.(Asp72Asn) -
-/. - c.327G>A r.(?) p.(Lys109=) -
-/. - c.327G>A r.(?) p.(Lys109=) -
-/. - c.327G>A r.(?) p.(Lys109=) -
-/-? 3 c.327G>A r.(?) p.(Lys109=) -
-?/? 3 c.327G>A r.(?) p.(Lys109=) -
+/+? 3 c.408_415del r.408_415del p.(Asn137Lysfs*22) -
-/. - c.491G>A r.(?) p.(Ser164Asn) -
./. - c.499C>T r.(?) p.(Gln167*) -
+/+? 3 c.499C>T r.(?) p.(Gln167*) -
+/+? 3 c.499C>T r.(?) p.(Gln167*) -
+/+? 3 c.521del r.(?) p.(Lys174Argfs*2) -
+/+? 3 c.526_529dup r.(?) p.(Val177Glufs*12) -
?/. - c.532G>A r.(?) p.(Glu178Lys) -
+/+? 3 c.532G>T r.(?) p.(Glu178*) -
?/. - c.553T>C r.(?) p.(Cys185Arg) -
-/. - c.565A>G r.(?) p.(Ile189Val) -
-/. - c.565A>G r.(?) p.(Ile189Val) -
-?/. - c.565A>G r.(?) p.(Ile189Val) -
+/+? 3 c.589C>T r.(?) p.(Gln197*) -
+/+? 3 c.601C>T r.(?) p.(Arg201*) -
-/. - c.610+8G>A r.(=) p.(=) -
-?/. - c.610+8G>A r.(=) p.(=) -
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