LOVD - Variant listings for ATP7A

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- c.-160u-646?_-160u-548?del - - - - - ATP7A_00001 Levinson 1996 Deletion of one of the three 98-bp tandem repeats in the promoter region; ormal levels with qRT-PCR. No effect on the site of transcription initiation, termination, splicing. SEQ RNA
- c.?
  (Reported 24 times)
46,XX/45,X (13/16) - - - - ATP7A_00254 Gerdes 1990 - Karyotyping -
- c.2406+1117A>G - r.2406_2407ins2406+1015_2406+1112 - - - ATP7A_00345 - - - -
- c.2916+2408T>G - - - - - ATP7A_00346 - - - -
- c.3294+763C>G - - - - - ATP7A_00347 - - - -
1 c.-160-?_-22+?del
  (Reported 6 times)
c.-22-?del - - - - ATP7A_00206 Tümer 2003 - Southern, PCR, PCRm DNA
1 c.(-160?_-22?del) 1.8 kb deletion including exon 1 and promoter region. Reduced levels of transcript - - - - ATP7A_00297 Levinson 1994, Mercer 1994, Levinson 1997, Cunliffe 2001 Mouse model - -
1 c.-55T>C 91T>C - - - - ATP7A_00279 Tumer unpublished, Gu 2001, Watanabe 2005 - - -
02_06 c.-21-?_1707+?del
  (Reported 3 times)
c.1-?_1707+?del - - - - ATP7A_00207 Tümer 1994b, Tümer 2003 - Southern, PCR, PCRm DNA
02_09 c.-21-?_2172+?del c.1-?_2172+?del - - - - ATP7A_00208 Tümer 2003 - Southern, PCR, PCRm DNA
02_14 c.-21-?_2916+?del c.1-?_2916+?del r.1_3111del - - - ATP7A_00209 Tümer 2003 - PCR, PCRm, RT-PCR, SEQ DNA, RNA
02_14 c.-21-?_2916+?dup r.-21_2916dup - - - - ATP7A_00203 Moizard 2010 cDNA fragment joining exons 2 to 14 PCR DNA, RNA
02_15 c.-21-?_3111+?del c.1-?_3111+?del r.1_3096delins44 - - - ATP7A_00210 Tümer 2003 - Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA
02_17 c.-21-?_3511+?del c.1-?_3511+?del - - - - ATP7A_00211 Tümer 2003 - PCR, PCRm DNA
02_18 c.-21-?_3658+?del - - - - - ATP7A_00212 Moizard 2010 - PCR DNA
02i c.121-796GT(16_25) (CA)A in intron 2 - p.= - - ATP7A_00280 Beggy 1995 6 observed (GT) alleles, n= 16, 20, 21, 22, 23, 25 - -
i2i c.2626+7G>T IVS12+7G>T - p.= - - ATP7A_00290 Hahn 2001 - - -
03_04 c.121-?_1336+?del
  (Reported 2 times)
- r.121_1336del - - - ATP7A_00213 Tümer 2003, Poulsen 2000b, Paulsen 2006 Translation reinitiation. frame shift Southern, PCR DNA, RNA
03_04 c.121-?_1336+?dup - wild-type; r.121_1336dup; r.611_1336dup - - - ATP7A_00316 Mogensen 2011 wild-type; r.121_1336dup (ex3-4, frame shift); r.611_1336dup (ex5, in-frame) MLPA, SEQ DNA, RNA
03_5 c.121-?_1543+?dup
  (Reported 2 times)
- r.121_1543dup p.(Gly515Glyfs*13) - - ATP7A_00202 Moizard 2010 cDNA fragment joining exons 2 to 5 PCR DNA, RNA
03_10 c.121-?_2406+?del
  (Reported 2 times)
- - - - - ATP7A_00214 Tümer 2003 in-frame Southern, PCR, PCRm DNA
03_13 c.121-?_2781+?dup - - - - - ATP7A_00322 Mogensen 2011 - MLPA, SEQ DNA
03_16 c.121-?_3294+?del - r.121_3294del - - - ATP7A_00215 Tümer 2003 in-frame Southern, PCR, RT-PCR, SEQ DNA/RNA
03_17 c.121-?_3511+?dup - - - - - ATP7A_00323 Mogensen 2011 - MLPA, SEQ DNA
03_20 c.121-?_4005+?del - - p.(Val41_Arg1335del - - ATP7A_00216 Moizard 2010 - PCR DNA
03_23 c.121-?_8333+?del
  (Reported 4 times)
- - - - - ATP7A_00217 Tümer 1994b, Tümer 2003 - Southern, PCR, PCRm DNA/RNA
3 c.327G>A
  (Reported 2 times)
472G>A (K109K) - p.(Lys109Lys) - - ATP7A_00281 Poulsen 2002a - - -
3 c.408_415delCAATCAGA - r.408_415delCAATCAGA - - - ATP7A_00002 Gerard-Blanluet 2004 Normal size (frame shift) SEQ DNA, RNA
3 c.499C>T
  (Reported 2 times)
C644>T - p.(Gln167*) - - ATP7A_00055 Das 1994 Bell 2011 Decreased level with NB SEQ RNA
3 c.521delA - - p.(Lys174Argfs*2) - - ATP7A_00003 Tümer 2011 - SEQ DNA
3 c.526_529dupAAAG 177insAAG - - - - ATP7A_00004 Tümer 1997 - SEQ DNA
3 c.532G>T - - p.(Glu178X) - - ATP7A_00056 Moller 2012 Affected females in the family SEQ DNA
3 c.589C>T Q197X - p.(Gln197*) - - ATP7A_00057 Kaler 2010 Mutation not described at sequence level in the manuscript SEQ -
3 c.601C>T nucleotide 746 CGA>UGA - p.(Arg201*) - - ATP7A_00058 Kaler 2009, Kaler 2010 read-through translation (nonsense suppression). Small amounts of full-length protein. SEQ -
4 c.611-?_1336+?del - - - - - ATP7A_00218 Tümer 2003 in-frame PCR, PCRm DNA
4 c.657_661delTATCT ATCTT deletion from 798-802 r.657_661delTATCT - - - ATP7A_00005 Das 1994 Frame shift. Decreased mRNA level with NB SEQ RNA
4 c.659_663delTCTCA ATCTC deletion from 803-807 r.659_663delTCTCA - - - ATP7A_00006 Das 1994, Vulpe 1993 Frame shift. Decreased mRNA level with NB SEQ RNA
4 c.659_666delTCTCAGTA - - p.(Ile220Argfs*8) - - ATP7A_00007 Tümer 2011 - SEQ DNA
4 c.693delT - - p.(Met232Trpfs*21) - - ATP7A_00008 Tümer 2011 - SEQ DNA
4 c.721C>T - r.611_1336del726 p.(Gln241*) - - ATP7A_00059 Moizard 2010 Skips Ex4 (in-frame) SEQ DNA, RNA
4 c.890delG Del G in codon 297 r.890delG - - - ATP7A_00009 Tümer 1996, George and Casey 2001 Normal size (frame shift) SEQ DNA, RNA
4 c.1009G>A A337T r.(?) p.(Ala337Thr) - - ATP7A_00312 Tarpey 2009 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) SEQ DNA
4 c.1028dupA 1173 ins A - - - - ATP7A_00010 Ogawa 1999 - SEQ DNA
4 c.1135delA 379delA - - - - ATP7A_00011 Tümer 1997 - SEQ DNA
4 c.1189_1192delGGTG - - p.(Gly397Serfs*8) - - ATP7A_00012 Tümer 2011 - SEQ DNA
4 c.1225C>T
  (Reported 3 times)
Arg409Ter (CGA>TGA) - p.(Arg409*) - - ATP7A_00060 Tümer 1997 - SEQ DNA
4 c.1234delC 412delC - - - - ATP7A_00013 Tümer 1997 - SEQ DNA
4 c.1299A>T 1444A>T (G433G) - p.(Glu433Glu) - - ATP7A_00282 Gu 2001 - - -
4 c.1329delC 1474delC - - - - ATP7A_00315 Gu 2012 - - -
05_06 c.1337-?_1707+?dup - wild type; r.1337_1707dup - - - ATP7A_00317 Mogensen 2011 r.1337_1707dup (frame shift); r.= (wild-type) MLPA, SEQ DNA, RNA
05_07 c.1337-?_1869+?del
  (Reported 2 times)
- r.1337_1869del ; r.1337_1946del - - - ATP7A_00219 Tümer 2003 r.1337_1869del (frame shift); r.1337_1946del (frame shift) Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA
05_07 c.1337-?_1869+?dup - wild-type; r.1337_1869dup - - - ATP7A_00321 Mogensen 2011 r.1337_1869dup (frame shift); r.= (wild-type) MLPA, SEQ DNA, RNA
05_12 c.1337-?_2626+?del - r.1337-_2626del - - - ATP7A_00221 Tümer 1994a, 7807930:Tümer 1994b, Tümer 2003 in-frame Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA
05_18 c.1337-?_3658+?del - - - - - ATP7A_00222 Tümer 2003 in-frame Southern, PCR, PCRm DNA
05_23 c.1337-?_5729+?del - - - - - ATP7A_00223 Tümer 2003 - Southern, PCR, PCRm DNA
5 c.1387C>T 1535C>T (L464L) - p.(Leu463Leu) - - ATP7A_00284 Ogawa 2000, Gu 2001, Hahn 2001, Watanabe 2005 - - -
5 c.1460C>A 1605C>A (S487X) - p.(Ser487*) - - ATP7A_00061 Gu 2001 - SEQ DNA
5 c.(1475T>C) 1570T>C (I483T) - p.(Ile492Thr) - - ATP7A_00299 J:153280 (The Jackson Laboratory) Mouse model - -
5 c.(1519G>T) 1485G>T (Glu496Ter) - p.(Glu507*) - - ATP7A_00298 J:138687 (The Jackson Laboratory) Mouse model - -
05i c.1544-272CA(19_24) (CA)B in intron 5 - p.= - - ATP7A_00283 Beggy 1995 6 observed (CA) alleles. n= 19, 20, 21, 22, 23, 24 - -
6 c.1544-?_1707+?del
  (Reported 2 times)
- - - - - ATP7A_00224 Tümer 2003, Moller 2012 frame shift Southern, PCR, PCRm DNA
06_07 c.1544-?_1869+?del - r.1554_1869del - - - ATP7A_00225 Tümer 2003 frame shift PCR, PCRm, RT-PCR, SEQ DNA/RNA
06_07 c.1544-?_1869+?dup
  (Reported 2 times)
- wild type; r.1544_1869dup; r. 1544_1707dup - - - ATP7A_00318 Mogensen 2011 wild type; r.1544_1869dup (ex6-7, frame shift); r. 1544_1707dup (ex6, frame shift) MLPA, SEQ DNA, RNA
06_09 c.1544-?_2172+?del
  (Reported 2 times)
- - - - - ATP7A_00226 Tümer 2003, Poulsen 2002a, Poulsen 2002b, Moller 2012 frame shift Southern, PCR, PCRm DNA
06_12 c.1544-?_2626+?del
  (Reported 2 times)
- r.1554_2626del - - - ATP7A_00227 Tümer 2003 in-frame Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA
06_14 c.1544-?_2916+?del - - - - - ATP7A_00228 Park 2009 - - DNA
06_15 c.1544-?_3111+?dup - - - - - ATP7A_00324 Mogensen 2011 - MLPA, SEQ DNA
06_23 c.1544-?_8333+?del - - - - - ATP7A_00229 Tümer 2003, Poulsen 2002b - Southern, PCR, PCRm DNA
6 c.1585G>T 1730G>T (E529X) - p.(Glu529*) - - ATP7A_00062 Gu 2001, Gu 2002, Gu2012 - SEQ DNA
6 c.1639C>T - - p.(Arg547X) - - ATP7A_00063 Tümer 2011 - SEQ DNA
06i c.1707+1G>A GTTgtaagtaagatrGTTataagtaagat r.1544_1707del164; r.1544_1869del326; r.1707insATAA p.= - - ATP7A_00146 Møller 2000, Skjørringe 2011 r.1544_1707del164 (ex6 skips, frame shift); r.1544_1869del326 (Skips ex6-7, frame shift); r.1707insATAA (CSS usage, frame shift) SEQ DNA, RNA
06i c.1707+4A>G - r.1707insGTAA p.= - - ATP7A_00147 Moizard 2010 r.1707insGTAA (CSS usage: insertion of the first 4 nt of intron 6, frame shift) SEQ DNA, RNA
06i c.1707+5G>A GTTgtaagtaagatrGTTgtaaataagat r.1544_1707del164; r.1544_1869del326; r.1707ins50bp p.= - - ATP7A_00148 Møller 2000, Skjørringe 2011 r.1544_1707del164 (ex6 skips, frame shift); r.1544_1869del326 (Skips ex6-7, frame shift); r.1707ins50bp (CSS usage, frame shift) SEQ DNA, RNA
06i c.1707+6_1707+9del
  (Reported 2 times)
DS(GTTgtaagtaagattt>GTTgtaagattt) Wild type; r.1544_1707del164 p.= - - ATP7A_00149 Gu 2001 Wild type, reduced levels (19%); r.1544_1707del164 (ex6 skips, frame shift) SEQ DNA, RNA
06i c.1708-1G>C - - p.= - - ATP7A_00150 Skjørringe 2011 - SEQ DNA
07_10 c.1708-?_2406+?dup - - - - - ATP7A_00325 Mogensen 2011 - MLPA, SEQ DNA
07_12 c.1708-?_2626+?dup
  (Reported 2 times)
- wild type; r.1708_2626dup;r.1870_2406dup - - - ATP7A_00326 Mogensen 2011 wild type; r.1708_2626dup (ex7-12, frame shift); r.1870_2406dup (ex8-10, in-frame) MLPA, SEQ DNA, RNA
07_14 c.1708-?_2916+?dup - - - - - ATP7A_00327 Mogensen 2011 - MLPA, SEQ DNA
07_17 c.1708-?_3511+?del - r.1708_3511del - - - ATP7A_00230 Tümer 2003; Poulsen 2002a frame shift Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA
07_19 c.1708-?_3801+?del
  (Reported 2 times)
- r.1708_3801del - - - ATP7A_00231 Tümer 2003 in-frame Southern, PCR, PCRm, RT-PCR, SEQ DNA/RNA
7 c.1734C>A
  (Reported 2 times)
Cys587Ter (TGC>TGA) - p.(Cys578*) - - ATP7A_00064 Tümer 1997 - SEQ DNA
7 c.1748_1749delAG
  (Reported 3 times)
AG deletion from 1893-1894 in 162-bp exon r.1748_1749delAG; r.1708_1869del162; r.1708_2172del465 - - - ATP7A_00014 Das 1994 r.1748_1749delAG; r.1708_1869del162 (Ex7 skips, in-frame); r.1708_2172del465 (Ex7-9 skips, in-frame). No detectable mRNA with NB. BESS RNA
7 c.1770_1771delAG 590-591delAG - - - - ATP7A_00015 Tümer 1997 - SEQ DNA
7 c.1780dupT 594insT - - - - ATP7A_00016 Tümer 1997 - SEQ DNA
7 c.1818delT 606delT - - - - ATP7A_00017 Tümer 1997 - SEQ DNA
7 c.1856dupT - - p.(His620Profs*4) - - ATP7A_00018 Tümer 2011 - SEQ DNA
07i c.1870-25A>C IVS7-25A>C - p.= - - ATP7A_00285 Poulsen 2002a - - -
07i c.1870-2A>T - - p.= - - ATP7A_00152 Skjørringe 2011 Two transcripts: 1. CSS leading to a 7 bp deletion of ex 8 (frame shift); 2. CSS leading to a 2 bp deletion of exon 8 (frame shift) SEQ DNA
07i c.1870-1G>C
  (Reported 3 times)
AS(agAGC>acAGC) r.1870_1871delAG p.= - - ATP7A_00151 Tümer 1997, Skjørringe 2011 r.1870_1871delAG (CSS usage, 2 bp deletion in ex 8, frame shift) SEQ DNA, RNA
08i c.(?) IVS8-9A>T - p.= - - ATP7A_00278 Mendelsohn 2006, Madsen 2008b Zebra fish model. Cryptic splice acceptor in intron8 inserting 7 bp leading to frameshift and PT at AA 674. Near complete loss of ATP7A - -
08_12 c.1870-?_2626+?dup
  (Reported 3 times)
- r.1870_2626dup p.(Gly876Glufs*5) - - ATP7A_00204 Moizard 2010 cDNA fragment joining exons 8 to 12 PCR DNA, RNA
08_14 c.1870-?_2916+?del
  (Reported 2 times)
- r.1870_2916del - - - ATP7A_00232 Tümer 2003, Poulsen 2002a, Poulsen 2002b in-frame PCR, RT-PCR, SEQ DNA/RNA
08_14 c.1870-?_2916+?dup - - - - - ATP7A_00328 Mogensen 2011 - MLPA, SEQ DNA
08_15 c.1870-?_3111+?del - - - - - ATP7A_00233 Tümer 2003 in-frame PCR, PCRm DNA
08_15 c.1870-?_3111+?dup - - - - - ATP7A_00329 Mogensen 2011 - MLPA, SEQ DNA
08_17 c.1870-?_3511+?dup
  (Reported 2 times)
- r.1870_3511dup p.(Asn1171Lysfs*5) - - ATP7A_00205 Moizard 2010 cDNA fragment joining exons 8 to 17 PCR DNA, RNA
8 c.1874T>R L625X - p.(Leu625*) - - ATP7A_00065 Kaler 2010 Mutation not described at sequence level in the manuscript SEQ -
08 c.1883A>T - - p.(Glu628Val) - - ATP7A_00330 Gourdon 2011 - - -
8 c.1884dupA ins 2030 A (E628frame shift644X) - - - - ATP7A_00019 Gu 2001 - SEQ DNA
8 c.1885G>C
  (Reported 4 times)
Ala629Pro (GCT>CCT) - p.(Ala629Pro) - - ATP7A_00089 Tümer 1997, de Bie 2007, Banci 2005, Payne 1998, Kouza 2010 - SEQ DNA
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The allelic variants listed here are a collection of those we have found in literature and which were submitted directly to the database. When you notice that we have missed allelic variants or when you detect mistakes, please let us know.



Legend: [ ATP7A full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. ATP7A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Variant remarks: Variant remarks Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein.