ABCMdb

ABCG8 p.Arg543Ser

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Publications

PMID: 11264985 [PubMed] Lee MH et al: "Genetic basis of sitosterolemia."

No. Sentence Comment

108 Mutations in ABCG5 and ABCG8 in sitosterolemia Patients Nationality/ethnicity ABCG5 ABCG8 4 US/Caucasian Arg412X Trp361X 9 US/Caucasian Arg543Ser Gln172X 56* US/Caucasian Tyr658X Trp361X 60 US/Caucasian Trp361X ± 90* US/Caucasian Trp361X Trp361X 94 US/Caucasian Trp361X Arg184His 120 US/Caucasian Leu501Pro Trp361X 125 US/Caucasian Trp361X Trp361X 128 US/Caucasian Leu596Arg ± 32 SA Caucasian Arg121X Arg121X 98 Dutch Caucasian Gly574Glu Trp361X 102* US/Caucasian Trp361X ± 135 Columbian/Caucasian Trp536X Trp536X 20 Finnish Trp361X Trp361X 116 Norwegian Trp36X Trp361X 84* US/Amish/Mennonite Gly574Arg Gly574Arg 108 US/Amish/Mennonite Gly574Arg Gly574Arg 25 SA/Asian Arg243X Arg243X 40 Japanese Arg419His Arg419His 46 Japanese Arg389His Arg389His 63 Japanese del Exon 3 del Exon 3 113 Japanese Arg389His Arg389His 132 Japanese Arg419His ± 140 Japanese Arg408X Arg408X 146 Japanese Arg389His Arg389His 157 US/Caucasian Arg419Pro Arg419Pro 15 US/Caucasian ± ± 143 SA/Indian Asian ± ± Arg121X Arg164X 149 African American Glu145Gln ± 1* German/Swiss Trp361X Trp361X 2* US/Amish Gly574Arg Gly574Arg 3* US/Caucasian Trp361X Tyr658X 5* US/Caucasian Trp361X Arg412X 6* US/Caucasian Leu596Arg ± 7 US/Hispanic Arg412X del547C4191X 8* NZ/Caucasian Trp361X ± 4 Chinese Arg263Gln Pro231Thr 9 Chinese Arg408X ± This is a compilation of the mutations identified in ABCG5 and ABCG8. Login to comment

PMID: 12124998 [PubMed] Heimerl S et al: "Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia."

No. Sentence Comment

77 C Y658stop R121stop R164stop Q172stop R184H L195Q P231T G574R G574E L572P L596R N ABC B S AA R263Q E146Q R405H R543S W536stop R412stop W361stop C R419P R419H R408stop R398H N437K R550S R243stop N ABCG5 ABCG8 S B A IVS1 -2A>G Del547C>191stop L501P L596R 1568_1572delTCTTT 1798_1800delTTC Del Exon 3 C336-337insA 201 * Signature 250 ABCG1 Q..EKDEG.R REMVKEILTA L GLLSCANTR TGS.... .LS GGQR KRLAIA ABCG2 ATTMTNHE.K NERINRVIEE L GLDKVADSK VGTQFIR GVS GGER KRTSIG ABCG4 S..EKQEV.K KELVTEILTA L GLMSCSHTR TAL.... .LS GGQR KRLAIA ABCG5 R..RGNPGSF QKKVEAVMAE L SLSHVADRL IGNYSLG GIS TGER RRVSIA ABCG8 PRTFSQAQ.R DKRVEDVIAE L RLRQCADTR VGNMYVR GLS GGER RRVSIG Figure 2: Alignment of the human ABC transporters G1, G2, G4, G5 and G8. The amino acid change Leu195Gln in ABCG8 found in patient 2 is located intracellularly between the Walker A and the Signature C-motif. Login to comment

PMID: 15054092 [PubMed] Graf GA et al: "Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking."

No. Sentence Comment

206 The remaining two mutations (R543S and G574R) decreased, but did not eliminate, the proportion of G8 present in the mature form. Login to comment
219 Only those mutant forms of G8 that were trafficking-competent (R543S and G574R) and to a lesser extent L596R were detected in the position of the dimer. Login to comment
205 The remaining two mutations (R543S and G574R) decreased, but did not eliminate, the proportion of G8 present in the mature form. Login to comment
218 Only those mutant forms of G8 that were trafficking-competent (R543S and G574R) and to a lesser extent L596R were detected in the position of the dimer. Login to comment

PMID: 11452359 [PubMed] Lu K et al: "Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively."

No. Sentence Comment

134 A human full- Table 2 Compilation of Mutations in ABCG5 and ABCG8 PATIENT (NATIONALITY/ETHNICITY) MUTATIONS IN ABCG5a ABCG8b 4 (U.S./white) Trp361X (1173GrA) / Arg412X (1324CrT) 9 (U.S./white) Arg543Ser (1719GrT) / Gln172X (604CrT) 56c (U.S./white) Trp361X (1173GrA) / Tyr658X (2064CrG) 60 (U.S./white) Trp361X (1173GrA) / IVS1 -2 ArG 90c (U.S./white) Trp361X (1173GrA) / Trp361X (1173GrA) 94 (U.S./white) Trp361X (1173GrA) / Arg184His (641GrA) 120 (U.S./white) Trp361X (1173GrA) / Leu501Pro (1592TrC) 125 (U.S./white) Trp361X (1173GrA) / Trp361X (1173GrA) 128 (U.S./white) Leu596Arg (1877TrG) / IVS1 -2 ArG 172 (U.S./white) Trp361X (1173GrA) / Tyr658Stop (2064CrG) 166c (U.S./white) Trp361X (1173GrA) / Arg412X (1324CrT) 32 (SA/white) Arg121X (451CrT) / Arg121X (451CrT) 98 (Dutch/white) Trp361X (1173GrA) / Gly574Glu (1811GrA) 102c,d (U.S./white) Trp361X (1173GrA) / … 84c (U.S./Amish-Mennonite) Gly574Arg (1810GrA) / Gly574Arg (1810GrA) 108c (U.S./Amish-Mennonite) Gly574Arg (1810GrA) / Gly574Arg (1810GrA) 135 (Columbian/white) Trp536X (1698GrA) / Trp536X (1698GrA) 175 (French) 1798_1800delTTC / Arg405His (1304GrA) 20 (Finnish) Trp361X (1173GrA) / Trp361X (1173GrA) 154 (Finnish) Trp361X (1173GrA) / … 116 (Norwegian) Trp361X (1173GrA) / Trp361X (1173GrA) 163 (Swedish) Trp361X (1173GrA) / Leu572Pro (1805TrC) 15 (U.S./white) 1568_1572delTCTTT / IVS1 -2 ArG 143 (SA/Asian) Arg164X (580CrT) / Arg121X (451CrT) 25 (SA/Asian) Arg243X (876CrT) / Arg243X (876CrT) 40 (Japanese) Arg419His (1396GrA) / Arg419His (1396GrA) 46 (Japanese) Arg389His (1306GrA) / Arg389His (1306GrA) 63 (Japanese) del exon 3 / del exon 3 113 (Japanese) Arg389His (1306GrA) / Arg389His (1306GrA) 132 (Japanese) Arg419His (1396GrC) / Arg550Ser (1790ArC) 140 (Japanese) Arg408X (1362CrT) / Arg408X (1362CrT) 146 (Japanese) Arg389His (1306GrA) / Arg389His (1306GrA) 157 (U.S./white) Arg419Pro (1396GrC) / Arg419Pro (1396GrC) 149 (African American) Glu146Gln (576GrC) / … 1c,e (German/Swiss) Trp361X / Trp361X 2c,e (U.S./Amish) Gly574Arg / Gly574Arg 3c,e (U.S./white) Trp361X / Tyr658X 5c,d (U.S./white) Trp361X / Arg412X 6c,e (U.S./white) Leu596Arg / … 7d (U.S./Hispanic) Arg412X / del547Cr191X 8c,e (New Zealand/white) Trp361X / … 4e (Chinese) Arg263Gln / Pro231Thr 9e (Chinese) Arg408X / … a GenBank accession number AF312715. Login to comment
146 of Alleles Frequency Restriction-Enzyme Recognition ABCG5: Glu146Gln 1 .05 Gain of AlwNI Arg243X 2 .10 Gain of AlwNI Arg389His 6 .30 Loss of BstUI Arg408X 3 .15 Loss of AvaI Arg419Pro 2 .10 Loss of BstUI Arg419His 3 .15 Loss of BstUI del exon 3 2 .10 … Arg550Ser 1 .05 … Total 20 ABCG8: Arg121X 3 .061 Gain of DdeI Arg164stop 1 .020 … Gln172X 1 .020 Gain of BfaI Arg184His 1 .020 Gain of NalIII Pro231Thr 1 .020 Loss of NlaIV Arg263Gln 1 .020 Gain of AluI Trp361X 19 .39 … Arg405His 1 .020 … Arg412X 3 .061 Gain of DdeI Leu501Pro 1 .020 Loss of AluI Trp536X 2 .041 Gain of AhdI Arg543Ser 1 .020 … Leu572Pro 1 .020 Gain of FauI Gly574Glu 1 .020 Loss of MspI Gly574Arg 4 .082 Loss of MspI Leu596Arg 1 .020 Gain of MspI Tyr658X 2 .041 Gain of SfcI IVS1 -2ArG 3 .061 Gain of BtgI 1798_1800delTTC 1 .020 … 1568_1572delTCTTT 1 .020 … Total 49 Mutations of Sterolin-2/ABCG8 as the Cause of Sitosterolemia Information on the exon/intron boundaries was used to screen probands, including those known to be mutated for sterolin-1, and to compare them to normal controls. Login to comment