PMID: 16763870

Ladewig MS, Gotting C, Szliska C, Issa PC, Helb HM, Bedenicki I, Scholl HP, Holz FG
[Pseudoxanthoma elasticum].
Ophthalmologe. 2006 Jun;103(6):537-51; quiz 552-3., [PubMed]
Sentences
No. Mutations Sentence Comment
272 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16763870:272:1867
status: NEW
view ABCC6 p.Arg1141* details
ABCC6 p.Arg1138Gln
X
ABCC6 p.Arg1138Gln 16763870:272:1337
status: NEW
view ABCC6 p.Arg1138Gln details
ABCC6 p.Arg1138Trp
X
ABCC6 p.Arg1138Trp 16763870:272:1328
status: NEW
view ABCC6 p.Arg1138Trp details
ABCC6 p.Arg1164*
X
ABCC6 p.Arg1164* 16763870:272:1876
status: NEW
view ABCC6 p.Arg1164* details
ABCC6 p.Arg518Gln
X
ABCC6 p.Arg518Gln 16763870:272:1178
status: NEW
view ABCC6 p.Arg518Gln details
ABCC6 p.Arg1114Pro
X
ABCC6 p.Arg1114Pro 16763870:272:1292
status: NEW
view ABCC6 p.Arg1114Pro details
ABCC6 p.Ala455Pro
X
ABCC6 p.Ala455Pro 16763870:272:1170
status: NEW
view ABCC6 p.Ala455Pro details
ABCC6 p.Arg1314Trp
X
ABCC6 p.Arg1314Trp 16763870:272:1436
status: NEW
view ABCC6 p.Arg1314Trp details
ABCC6 p.Arg518*
X
ABCC6 p.Arg518* 16763870:272:1834
status: NEW
view ABCC6 p.Arg518* details
ABCC6 p.Gln378*
X
ABCC6 p.Gln378* 16763870:272:1826
status: NEW
view ABCC6 p.Gln378* details
ABCC6 p.Gln1347His
X
ABCC6 p.Gln1347His 16763870:272:1499
status: NEW
view ABCC6 p.Gln1347His details
ABCC6 p.Phe568Ser
X
ABCC6 p.Phe568Ser 16763870:272:1186
status: NEW
view ABCC6 p.Phe568Ser details
ABCC6 p.Arg1398*
X
ABCC6 p.Arg1398* 16763870:272:1912
status: NEW
view ABCC6 p.Arg1398* details
ABCC6 p.Gly1321Ser
X
ABCC6 p.Gly1321Ser 16763870:272:1454
status: NEW
view ABCC6 p.Gly1321Ser details
ABCC6 p.Gly1302Arg
X
ABCC6 p.Gly1302Arg 16763870:272:1409
status: NEW
view ABCC6 p.Gly1302Arg details
ABCC6 p.Arg765Gln
X
ABCC6 p.Arg765Gln 16763870:272:1226
status: NEW
view ABCC6 p.Arg765Gln details
ABCC6 p.Ile1424Thr
X
ABCC6 p.Ile1424Thr 16763870:272:1562
status: NEW
view ABCC6 p.Ile1424Thr details
ABCC6 p.Val1298Phe
X
ABCC6 p.Val1298Phe 16763870:272:1391
status: NEW
view ABCC6 p.Val1298Phe details
ABCC6 p.Ser1121Trp
X
ABCC6 p.Ser1121Trp 16763870:272:1301
status: NEW
view ABCC6 p.Ser1121Trp details
ABCC6 p.Arg1030*
X
ABCC6 p.Arg1030* 16763870:272:1858
status: NEW
view ABCC6 p.Arg1030* details
ABCC6 p.Arg1339Cys
X
ABCC6 p.Arg1339Cys 16763870:272:1481
status: NEW
view ABCC6 p.Arg1339Cys details
ABCC6 p.Gln1237*
X
ABCC6 p.Gln1237* 16763870:272:1894
status: NEW
view ABCC6 p.Gln1237* details
ABCC6 p.Gly1203Asp
X
ABCC6 p.Gly1203Asp 16763870:272:1355
status: NEW
view ABCC6 p.Gly1203Asp details
ABCC6 p.Ala1303Pro
X
ABCC6 p.Ala1303Pro 16763870:272:1418
status: NEW
view ABCC6 p.Ala1303Pro details
ABCC6 p.Leu673Pro
X
ABCC6 p.Leu673Pro 16763870:272:1202
status: NEW
view ABCC6 p.Leu673Pro details
ABCC6 p.Thr1301Ile
X
ABCC6 p.Thr1301Ile 16763870:272:1400
status: NEW
view ABCC6 p.Thr1301Ile details
ABCC6 p.Arg1138Pro
X
ABCC6 p.Arg1138Pro 16763870:272:1346
status: NEW
view ABCC6 p.Arg1138Pro details
ABCC6 p.Arg1314Gln
X
ABCC6 p.Arg1314Gln 16763870:272:1445
status: NEW
view ABCC6 p.Arg1314Gln details
ABCC6 p.Asp1361Asn
X
ABCC6 p.Asp1361Asn 16763870:272:1526
status: NEW
view ABCC6 p.Asp1361Asn details
ABCC6 p.Tyr768*
X
ABCC6 p.Tyr768* 16763870:272:1850
status: NEW
view ABCC6 p.Tyr768* details
ABCC6 p.Thr364Arg
X
ABCC6 p.Thr364Arg 16763870:272:1138
status: NEW
view ABCC6 p.Thr364Arg details
ABCC6 p.Gly1354Arg
X
ABCC6 p.Gly1354Arg 16763870:272:1508
status: NEW
view ABCC6 p.Gly1354Arg details
ABCC6 p.Arg1459Cys
X
ABCC6 p.Arg1459Cys 16763870:272:1571
status: NEW
view ABCC6 p.Arg1459Cys details
ABCC6 p.Arg1221Cys
X
ABCC6 p.Arg1221Cys 16763870:272:1364
status: NEW
view ABCC6 p.Arg1221Cys details
ABCC6 p.Gln749*
X
ABCC6 p.Gln749* 16763870:272:1842
status: NEW
view ABCC6 p.Gln749* details
ABCC6 p.Arg1114His
X
ABCC6 p.Arg1114His 16763870:272:1283
status: NEW
view ABCC6 p.Arg1114His details
ABCC6 p.Lys1394Asn
X
ABCC6 p.Lys1394Asn 16763870:272:1535
status: NEW
view ABCC6 p.Lys1394Asn details
ABCC6 p.Ala766Asp
X
ABCC6 p.Ala766Asp 16763870:272:1234
status: NEW
view ABCC6 p.Ala766Asp details
ABCC6 p.Asp1238His
X
ABCC6 p.Asp1238His 16763870:272:1373
status: NEW
view ABCC6 p.Asp1238His details
ABCC6 p.Leu1335Pro
X
ABCC6 p.Leu1335Pro 16763870:272:1472
status: NEW
view ABCC6 p.Leu1335Pro details
ABCC6 p.Trp1223*
X
ABCC6 p.Trp1223* 16763870:272:1885
status: NEW
view ABCC6 p.Trp1223* details
ABCC6 p.Glu1400Lys
X
ABCC6 p.Glu1400Lys 16763870:272:1544
status: NEW
view ABCC6 p.Glu1400Lys details
ABCC6 p.Met751Lys
X
ABCC6 p.Met751Lys 16763870:272:1210
status: NEW
view ABCC6 p.Met751Lys details
ABCC6 p.Asp1326Asn
X
ABCC6 p.Asp1326Asn 16763870:272:1463
status: NEW
view ABCC6 p.Asp1326Asn details
ABCC6 p.Val810Met
X
ABCC6 p.Val810Met 16763870:272:1242
status: NEW
view ABCC6 p.Val810Met details
ABCC6 p.Cys440Gly
X
ABCC6 p.Cys440Gly 16763870:272:1162
status: NEW
view ABCC6 p.Cys440Gly details
ABCC6 p.Arg1114Cys
X
ABCC6 p.Arg1114Cys 16763870:272:1274
status: NEW
view ABCC6 p.Arg1114Cys details
ABCC6 p.Pro1346Ser
X
ABCC6 p.Pro1346Ser 16763870:272:1490
status: NEW
view ABCC6 p.Pro1346Ser details
ABCC6 p.Met1127Thr
X
ABCC6 p.Met1127Thr 16763870:272:1310
status: NEW
view ABCC6 p.Met1127Thr details
ABCC6 p.Ala820Pro
X
ABCC6 p.Ala820Pro 16763870:272:1250
status: NEW
view ABCC6 p.Ala820Pro details
ABCC6 p.Arg600Gly
X
ABCC6 p.Arg600Gly 16763870:272:1194
status: NEW
view ABCC6 p.Arg600Gly details
ABCC6 p.Arg760Trp
X
ABCC6 p.Arg760Trp 16763870:272:1218
status: NEW
view ABCC6 p.Arg760Trp details
ABCC6 p.Arg1357Trp
X
ABCC6 p.Arg1357Trp 16763870:272:1517
status: NEW
view ABCC6 p.Arg1357Trp details
ABCC6 p.Leu851Pro
X
ABCC6 p.Leu851Pro 16763870:272:1258
status: NEW
view ABCC6 p.Leu851Pro details
ABCC6 p.Phe952Cys
X
ABCC6 p.Phe952Cys 16763870:272:1266
status: NEW
view ABCC6 p.Phe952Cys details
ABCC6 p.Gly1311Glu
X
ABCC6 p.Gly1311Glu 16763870:272:1427
status: NEW
view ABCC6 p.Gly1311Glu details
ABCC6 p.Tyr1239His
X
ABCC6 p.Tyr1239His 16763870:272:1382
status: NEW
view ABCC6 p.Tyr1239His details
Internetadressen PXE-Selbsthilfegruppe Deutschland : http://www.pxe-groenblad.de PXE International: http://www.pxe.org Tabelle 5 PXE verursachende Mutationen imabcc6-Gen Klassifikation Lokalisation Gen Protein Missense Exon 9 Exon 9 Exon 10 Exon 10 Exon 11 Exon 12 Exon 13 Exon 14 Exon 16 Exon 18 Exon 18 Exon 18 Exon 18 Exon 19 Exon 19 Exon 19 Exon 22 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 25 Exon 26 Exon 26 Exon 26 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 29 Exon 29 Exon 29 Exon 29 Exon 29 Exon 30 Exon 30 Exon 30 c.1091CaG c.1171AaG c.1233TaG c.1318TaG c.1363GaC c.1553GaA c.1703TaC c.1798CaT c.2018TaC c.2252TaA c.2278CaT c.2294GaA c.2297CaA c.2428GaA c.2458GaC c.2552TaC c.2855TaG c.3340CaT c.3341GaA c.3341GaC c.3362CaG c.3380CaT c.3389CaT c.3412CaT c.3413GaA c.3413GaC c.3608GaA c.3661CaT c.3712GaC c.3715TaC c.3892GaT c.3902CaT c.3904GaA c.3907GaC c.3932GaA c.3940CaT c.3941GaA c.3961GaA c.3976GaA c.4004TaC c.4015CaT c.4036CaT c.4041GaC c.4060GaC c.4069CaT c.4081GaA c.4182GaT c.4198GaA c.4209CaA c.4271TaC c.4377CaT p.T364R p.R391G p.N411K p.C440G p.A455P p.R518Q p.F568S p.R600G p.L673P p.M751K p.R760W p.R765Q p.A766D p.V810M p.A820P p.L851P p.F952C p.R1114C p.R1114H p.R1114P p.S1121W p.M1127T p.T1130M p.R1138W p.R1138Q p.R1138P p.G1203D p.R1221C p.D1238H p.Y1239H p.V1298F p.T1301I p.G1302R p.A1303P p.G1311E p.R1314W p.R1314Q p.G1321S p.D1326N p.L1335P p.R1339C p.P1346S p.Q1347H p.G1354R p.R1357W p.D1361N p.K1394N p.E1400K p.S1403R p.I1424T p.R1459C Klassifikation Lokalisation Gen Protein Nonsense Exon 9 Exon 12 Exon 17 Exon 18 Exon 23 Exon 24 Exon 24 Exon 26 Exon 26 Exon 27 Exon 29 c.1132CaT c.1552CaT c.2247CaT c.2304CaA c.3088CaT c.3421CaT c.3490CaT c.3668GaA c.3709CaT c.3823CaT c.4192CaT p.Q378X p.R518X p.Q749X p.Y768X p.R1030X p.R1141X p.R1164X p.W1223X p.Q1237X p.R1275X p.R1398X Spleißstellen Intron 21 Intron 25 Intron 26 c.2787+1GaT c.3634-3CaA c.3736-1GaA Insertion Exon 8 Exon 25 Exon 30 c.938-939insT c.3544dupC c.4220insAGAA Deletion Exon 2 Exon 2 Exon 3 Exon 8 Exon 9 Exon 16 Exon 16 Exon 18 Exon 19 Exon 22 Exon 27 Exon 29 Exon 29 Exon 30 Exon 31 c.179del9 c.179-195del c.220-222del c.960delC c.1088-1120del c.1944del22 c.1995delG c.2322delC c.2542delG c.2835-2850del16 c.3775delT c.4101delC c.4182delG c.4318delA c.4434delA Intragenische Deletion Exon 15 Exon 18 Exon 23-29 delEx15 delEx18 delEx23-29 Intergenische Deletion ABCC6 delABCC6 Fazit für die Praxis Eine spezifische Behandlung der Grunderkrankung ist nicht bekannt. Login to comment