REP1


Rab escort protein 1

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
CHM

Finnish Mutations
Mutation Consequence Amino acid change Reference sequence Articles
Sankila-1 leads to two aberrantly spliced mRNAs both producing a premature stop codon 1302003


Foreign Mutations
Mutation Consequence Amino acid change Reference sequence Population Articles
(967-970+2)delAAAGGT Y312fs X78121 Japanese 18773267
1183insC frameshift Danish/Swedish 7981671
1196+?_1992+?del Unknown 12203991
1414_1510del 1414_1510del Unknown 12827496
1444-2A>G splice error Danish/Swedish 7981671
146+?_1196+?del R40-R389del Unknown 12203991
1527C>A C500X Danish/Swedish 7981671
1608A>CC absence or truncation of the predicted CHM protein Japanese 9349950
1609-1612delTTGT frameshift Danish/Swedish 7981671
1680-1681delTT frameshift Danish/Swedish 7981671
1703C>G S558X French 8956058
344+?_1196+?del S105-C388del Unknown 12203991
345 -14T>G splice error Danish/Swedish 7981671
555-556delAG frameshift Danish/Swedish, Spanish 7981671, 18385043
610insA frameshift Danish/Swedish 7981671
761A>T Unknown 7951216
907C>T R294X Danish/Swedish 7981671
Garcia-Hoyos-1 3 different aberrant splicing, loss of functional domain Spanish 18385043
Garcia-Hoyos-2 skipping of exon 9 Spanish 18385043
Garcia-Hoyos-3 absent protein Spanish 18385043
IVS13+3A>C Unknown 9678418
IVS3+1G>A S39fsX45 Spanish 18385043
L235_Q273del L235_Q273del Unknown 12827496
McTaggart-1 absent CHM transcript Unknown 12203991
McTaggart-2 absent REP1 Unknown 12203991
Mura-1 Unknown 17698759
Rush-1 American/NA 20434696
[46,X,t(X;4)(q21;p16)] Spanish 16222660, 18385043
c.1009delC K327fsX329 Unknown 12203991
c.1030C>T Q334X Unknown 9067750
c.1049C>A S340X Spanish 10651486, 12203991
c.1064C>G S345X Japanese 10447648
c.116+1G>A splice defect X78132 Unknown 12827496
c.1238C>G S403X Japanese 10447648
c.1248C>A C406X Unknown 12203991
c.1274+1G>A 5´ splice signal Unknown 9067750, 12203991
c.1313-4delTC frameshift, deletion Japanese 10447648
c.1319delA G430fsX457 Unknown 12203991
c.1327_1328delAT I460X American/NA 20027300
c.1350-2A>G NM_000390 Unknown 19597113
c.1358_1359CC>G S453X X78126 Unknown 12827496
c.1374insC frameshift, deletion Japanese 10447648
c.1379+2insGGT aberrant splicing Unknown 9067750, 12203991
c.1380-1G>A EX11del R450fsX454 Unknown 12203991
c.1380-6T>G EX11del R450fsX454 Unknown 12203991
c.1393delG Q455fsX457 Unknown 12203991
c.1403C>G S468X Mexican 19764077
c.146+1G>A splicing defect Japanese 10447648, 12203991
c.1531_1532ins15 T511delinsIFX513 X78130 Unknown 12827496
c.1542T>A Y504X Unknown 12203991
c.160G>T G44X Unknown 12203991
c.1614_1618delTGTT H529fsX535 Unknown 12203991
c.1633G>T E535X Unknown 12203991
c.1639A>T R555X American (Italian) 9196401, 12203991
c.1644G>A W548X X78127 Unknown 12827496
c.170G>A W47X Japanese 10447648
c.1725C>A C575X X78128 Unknown 12827496
c.1789delG frameshift, deletion Japanese 10447648
c.1801-1G>A Unknown 9067750
c.189+1G>A 117_189del X78133 Unknown 12827496
c.190-2A>G 190_197del X78134 Unknown 12827496
c.214G>A E72K French 11139690
c.256C>T Q76X Spanish 18385043
c.314+10127T>A 314_315ins98 X78135 Unknown 12827496
c.325G>C G109R French 11139690
c.339T>G Y103X Spanish 18385043
c.345-348delTCAG frameshift, deletion R105fs124 Japanese 10447648, 12203991
c.3G>A M1I American/NA 20027300
c.402delT Japanese 15579993
c.47delC L6fsX11 Unknown 12203991
c.49+5G>T splice defect X78131 Unknown 12827496
c.555_556delAG K177fsX182 Japanese 15579993, 12203991
c.559delG K177fsX196 Unknown 12203991
c.577C>T P193S French 11139690
c.579_587del9ins8 E183fsX196 Unknown 12203991
c.590G>A R197H French 11139690
c.594-595delGC frameshift, deletion Japanese 10447648
c.599C>G S190X Unknown 12203991
c.627dupA P210TfsX12 Chinese 18087237
c.638G>A R213E French 11139690
c.649_652del Y217fsX230 X78129 Unknown 12827496
c.655C>T Q209X Japanese 10447648
c.671_672delGA R214fsX221 Spanish 18385043
c.682_685delTCAC K218fsX230 Unknown 12203991
c.700A>T K234X American/NA 20027300
c.703-1G>C delEX6 Chinese 18087237
c.715C>T R239X X78121 Unknown 12827496
c.745C>T R239X Spanish 18385043, 12203991
c.756_757delAAinsT L243fsX246 Unknown 12203991
c.757C>T R253X X78121 Unknown 12827496
c.779delA frameshift Unknown 9067750
c.787C>T R253X Japanese 10447648, 12203991
c.79+1G>A aberrant splicing Unknown 12203991
c.798delG D256fsX290 Unknown 12203991
c.80-1G>C splicing defect Japanese 10447648
c.808C>T R270X X78122 Unknown 12827496
c.814G>T E272X X78123 Unknown 12827496
c.817C>T Q273X American/NA 20027300
c.820-8T>G X78136 Unknown 12827496
c.829C>T R267X Japanese 9067750, 10447648, 12203991
c.838C>T R270X Japanese 10447648, 12203991
c.850-1 G>C delEX7 Caucasian 15465555
c.877C>T R293X X78124 Unknown 12827496
c.907C>T R293X Spanish 18385043, 12203991
c.924T>G Y308X X78125 Unknown 12827496
c.934delT V302fsX324 Unknown 12203991
c.941-2A>G splice defect X78137 Unknown 12827496
c.970+1G>T aberrant splicing Unknown 12203991
del DXS1002-pJ7.6A Unknown 7981671
del DXS110-DXS233 Unknown 7981671
del DXS110-pJ15 Unknown 7981671
del DXS349-EX8 Unknown 7981671
del EX1-DXS165 Unknown 7981671
del EX1-pJ36 Unknown 7981671
del EX3-15 Unknown 7981671
delDXS110-pJ7.6A Unknown 7981671
delEX1-13 Japanese 10447648
delEX1-15 no product Danish/Swedish 7981671
delEX1-8 no product Danish/Swedish 7981671
delEX12 frameshift Danish/Swedish 7981671
delEX3-12 Unknown 12827496
delEX3-4 Spanish 18385043
delEX6-7 I244x American/NA 20027300
van Bokhoven-1 Unknown 7981670
van Bokhoven-2 Unknown 7987344
van der Hurk-1 Unknown 1598901
van der Hurk-2 Unknown 1598901
van der Hurk-3 Unknown 1598901
van der Hurk-4 frameshift and truncated protein Unknown 1598901
van der Hurk-5 frameshift and truncated protein Unknown 1598901
van der Hurk-6 Unknown 12827496