ABCMdb

ABCG8 p.Gly574Arg

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Publications

PMID: 16618113 [PubMed] Polgar O et al: "Mutational studies of G553 in TM5 of ABCG2: a residue potentially involved in dimerization."

No. Sentence Comment

231 On the other hand, the ABCG8 G574R mutant, although having some effect on ABCG8 maturation, did not prevent heterodimerization (33). Login to comment

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
12 The third patient was homozygous for an amino acid exchange (Gly574Arg). Login to comment
37 (mg/dl) Gene Mutation Allele 1 Mutation Allele 2 Ethnicity 1 305 246 38 101 31.1 ABCG5 Arg408X - Caucasian / German 2 210 129 67 72 20.3 ABCG8 Leu195Gln - Caucasian 3 218 166 35 84 22.1 ABCG8 Trp361X Arg412X Caucasian 4 247 155 56 189 20.5 ABCG8 Trp361X Trp361X Caucasian 5 214 145 42 90 17.5 ABCG8 Gly574Arg Gly574Arg Caucasian / Swiss Patient 1 was a man who suffered from a myocardial infarction at the age of 31 years. Login to comment
48 Patient 5 carried a homozygous mutation in exon 11(c.1720 G>A) of the ABCG8 gene resulting in an amino acid exchange at position 574 (Gly574Arg). Login to comment
80 Patient 3 carried a compound heterozygous mutation resulting in a truncated protein (Trp361X and Arg412X), whereas patient 4 and patient 5 had homozygous mutations for Trp361X and Gly574Arg, respectively. Login to comment

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

No. Sentence Comment

198 Three exceptions, L596R, G574E, and G574R in G8, result in the substitution of charged for neutral amino acids. Login to 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
197 Three exceptions, L596R, G574E, and G574R in G8, result in the substitution of charged for neutral amino acids. 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: 21437027 [PubMed] Izar MC et al: "Phytosterols and phytosterolemia: gene-diet interactions."

No. Sentence Comment

111 The presence of the homozygous mutation Gly574Arg in the ABCG8 gene has been found previously in the Amish-Mennonite patients where a founder effect has been reported [73]. Login to comment
113 The presence of the homozygous mutation Gly574Arg in the ABCG8 gene has been found previously in the Amish-Mennonite patients where a founder effect has been reported [73]. Login to comment

PMID: 15996216 [PubMed] Solca C et al: "Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots."

No. Sentence Comment

56 Mutational analysis showed that our patient was homozygous for the Gly574Arg mutation in ABCG8. Login to comment
64 These data support the contention that the Gly574Arg mutation in the Amish-Mennonite originated in Europe and is likely more than 250 years old. Login to comment

PMID: 12359125 [PubMed] Burris TP et al: "Genetic disorders associated with ATP binding cassette cholesterol transporters."

No. Sentence Comment

112 Regulation of ABC cholesterol transporters by LXR/ RXR heterodimer One feature of ABC transporters is that they are usually feed back/forward regulated by their own sub-Table 2 Summary of mutations described in sitosterolemia Nucleotide sequence change Protein sequence change ABC transporters References 402Del Truncated protein ABCG5 [12] C867T R243X ABCG5 [12] G1306A R389H ABCG5 [12] C1362T R408X ABCG5 [11,12] G1396A R419H ABCG5 [12] G1396C R419P ABCG5 [12] 547Del P231T ABCG8 [11] A691C 191Stop ABCG8 [11] G788A R263Q ABCG8 [11] G1083A W361Stop ABCG8 [11] C1234T R412stop ABCG8 [11] G1720A G574R ABCG8 [11] T1787G L596R ABCG8 [11] C1974G Y658Stop ABCG8 [11] strates at the level of transcription. Login to comment

PMID: 22095132 [PubMed] Tarling EJ et al: "ATP binding cassette transporter G1 (ABCG1) is an intracellular sterol transporter."

No. Sentence Comment

164 Interestingly, a point mutation in this residue in ABCG8 (G574R) has been identified in a patient with sitosterolemia (38). 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

PMID: 23241408 [PubMed] Horenstein RB et al: "The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish."

No. Sentence Comment

13 Methods and Results-In Old Order Amish participants aged 18 to 85 years, with (n=110) and without (n=181) 1 copy of the ABCG8 G574R variant, we compared mean plasma levels of plant sterols and cholesterol precursors and carotid intima-media wall thickness. Login to comment
16 The G574R variant was not associated with high-density lipoprotein cholesterol or low-density lipoprotein cholesterol levels. Login to comment
19 Conclusion-Although the G574R variant is associated with moderately elevated plant sterol levels, carriers of the 574R allele had modestly lower levels of carotid wall thickness compared with noncarriers.ߒ Èa;Èa;(Arterioscler Thromb Vasc Biol. Login to comment
21 Key Words: ABC transporter fc; atherosclerosis fc; lipids fc; plant sterols fc; sitosterol The ABCG8 G574R Variant, Serum Plant Sterol Levels, and Cardiovascular Disease Risk in the Old Order Amish Richard B. Horenstein, Braxton D. Mitchell, Wendy S. Post, Dieter L&#fc;tjohann, Klaus von Bergmann, Kathleen A. Ryan, Michael Terrin, Alan R. Shuldiner, Nanette I. Steinle Simvastatin Survival Study, individuals within the upper quartile of campesterol:cholesterol ratios were more likely to require statin titration and less likely to receive risk reduction from simvastatin.8,9 It has also been reported that postmenopausal women with heart disease had higher phytosterol concentrations than their respective controls.10 In the Prospective Cardiovascular M&#fc;nster Study, sitosterol concentrations were associated with increased risk of major coronary events in men at high risk of coronary heart disease.11 By contrast, Silbernagel found no association between increased absorption of plant sterol levels and coronary disease,12 nor were elevated levels of plant sterol associated with atherosclerosis in middle-aged men and women in the Dallas Heart Study.13 The potential role of plant sterols in CVD pathogenesis has become a topic of clinical interest with the finding that long-term high dose HMG-CoA reductase inhibitor (statin) use increases plasma plant sterol levels,9 and that ezetimibe, a drug used to block intestinal absorption of sterols, lowers plasma plant sterol levels.14 The prevalent use of plant sterol-enriched foods (eg, stanol margarines) to lower low-density lipoprotein cholesterol (LDL-C) levels adds to the interest in the relation of phytosterols and CVD risk. Login to comment
22 Sitosterolemia was initially identified in 2 sisters of Amish-Mennonite background,15 and the disease was further characterized in additional members of the Amish, including in a 13-year-old boy from the Old Order Amish community in Lancaster County, Pennsylvania who died from coronary artery disease.16 The disease in the boy resulted from a single-nucleotide change, at position 574 in ABCG8, leading to an amino acid substitution from glycine to arginine (Gly574Arg, or G574R; rs137852988). Login to comment
23 Because of the unique ancestral background of the Lancaster County Amish, we hypothesized that this community would have multiple members who are heterozygous for 1 copy of the ABCG8 mutation, and that these individuals would demonstrate moderate elevations in plasma plant sterols and mildly accelerated atherosclerosis. We sought to identify individuals heterozygous for the ABCG8 G574R mutation to further study the role of plant sterols in CVD and to evaluate the association of the carrier or heterozygous status, with subclinical atherosclerosis as assessed by ultrasound measurement of carotid artery intima-media wall thickness (IMT). Login to comment
24 Methods Subjects and Study Design We screened banked DNA samples from 984 participants from our ongoing studies of complex genetic diseases and traits in the Lancaster County Amish17-19 to identify carriers for the ABCG8 G574R mutation and then recruited family members of these individuals to increase the yield of carriers. Login to comment
57 We then recruited 290 family members of these carriers of whom 99 were carriers, thereby increasing our yield to 114 G574R heterozygote carriers, 190 noncarriers, and 1 574R homozygote. Login to comment
62 Thus the final sample included 110 G574R heterozygote carriers and 181 noncarriers. Login to comment
81 Table 1.ߓ Mean Lipid Levels (&#b1;SE) and Baseline Characteristics of Old Order Amish ABCG8 G574R Variant Heterozygotes and Noncarriers (G574G) G574R Heterozygotes (n=110) G574G (n=181) Age, Sex, and BMI-Adjusted Pߙߙ* Age, y 42.2&#b1;2.0 47.2&#b1;1.7 0.01 Sex, % male 45.5 51.9 0.14 BMI, kg/m2 25.8&#b1;0.6 26.5&#b1;0.5 0.22 Total cholesterol, mg/dL 212&#b1;5.8 217&#b1;5.7 0.40 HDL-cholesterol, mg/dL 49.7&#b1;1.7 51.2&#b1;1.5 0.39 LDL-cholesterol, mg/dL 148&#b1;5.4 149&#b1;5.2 0.89 Glucose, mg/dL 87.6&#b1;2.5 90.2&#b1;2.1 0.30 Systolic blood pressure, mmߕHg 123&#b1;1.9 124&#b1;1.5 0.54 Diastolic blood pressure, mmߕHg 75&#b1;1.1 76&#b1;0.9 0.18 Type 2 diabetes mellitus, % 1.8 3.3 >0.95 History of hypertension, % 5.7 14.4 0.17 History of heart surgery, % 0.0 2.3 0.19 History of MI, % 0.0 1.7 0.17 BMI indicates body mass index; HDL, high-density lipoprotein; LDL, low-density lipoprotein; and MI, myocardial infarction. Login to comment
83 Because cIMT is strongly associated with aging, we assessed whether the association of the G574R variant with IMT was modified by age by including a single-nucleotide polymorphism &#d7; age interaction term in the model. Login to comment
85 Discussion The Old Order Amish provide a unique opportunity to test the hypothesis that modestly elevated plant sterol levels are associated with increased subclinical atherosclerosis as the ABCG8 G574R mutation is enriched in this population and we were able to identify additional carriers through targeted recruitment of families. Login to comment
88 The ABCG8 G574R variant present in the Lancaster Amish has been found in contemporary Switzerland.23 Haplotype analyses have revealed that the initial Amish index cases and the contemporary case identified in Switzerland share a common haplotype, consistent with a common ancestral source for this variant that originated in Switzerland (or before) and was carried to Pennsylvania by ࣙ1 emigrants in the early 1700s. Login to comment
93 As our major conclusion from this study, we find no evidence to Table 2.ߓ Mean Levels (&#b1;SE) of Plant Sterols, Cholesterol Precursors, Sterol/Total Cholesterol Ratios in Old Order Amish ABCG8 G574R Variant Heterozygotes (G574R) and Noncarriers (G574G) G574R Heterozygotes (n=110) G574G (n=181) Age-and Sex-Adjusted P Plant sterols ߓ Sitosterol, mg/dL 0.47&#b1;0.02 0.34&#b1;0.02 <0.0001 ߓ Sitosterol/chol ratio* 2.13&#b1;0.07 1.52&#b1;0.06 <0.0001 ߓ Campesterol, mg/dL 0.60&#b1;0.03 0.44&#b1;0.03 <0.0001 ߓ Campesterol/chol ratio 2.72&#b1;0.10 1.97&#b1;0.08 <0.0001 ߓStigmasterol, bc;g/dL 16.29&#b1;0.84 12.06&#b1;0.79 <0.0001 ߓ Stigmasterol/chol ratio 0.07&#b1;0.003 0.05&#b1;0.003 <0.0001 ߓAvenasterol 1.65&#b1;0.09 1.20&#b1;0.08 <0.0001 ߓ Avena/chol ratio 7.47&#b1;0.40 5.43&#b1;0.35 <0.0001 ߓBrassicasterol, bc;g/dL 26.27&#b1;1.89 22.08&#b1;1.71 0.03 ߓ Brassicasterol/chol ratio 0.12&#b1;0.008 0.010&#b1;0.006 0.008 Proxy for cholesterol absorption ߓ Cholestanol, mg/dL 0.38&#b1;0.01 0.32&#b1;0.01 <0.0001 ߓ Cholestanol/chol ratio 1.75&#b1;0.04 1.45&#b1;0.03 <0.0001 Plant stanols ߓCampestanol, bc;g/dL 5.86&#b1;0.20 4.74&#b1;0.18 <0.0001 ߓ Campestanol/chol ratio 0.03&#b1;0.001 0.02&#b1;0.001 <0.0001 ߓSitostanol, bc;g/dL 7.80&#b1;0.28 6.39&#b1;0.25 <0.0001 ߓ Sitostanol/chol ratio, bc;g/mg 0.04&#b1;0.001 0.03&#b1;0.001 <0.0001 Markers of cholesterol synthesis ߓLanosterol, bc;g/dL 15.68&#b1;0.74 18.15&#b1;0.69 0.0009 ߓ Lanosterol/chol ratio 0.08&#b1;0.003 0.08&#b1;0.003 0.007 ߓ Lathosterol, mg/dL 0.20&#b1;0.01 0.24&#b1;0.01 <0.0001 ߓ Lathosterol/chol ratio 0.95&#b1;0.05 1.12&#b1;0.04 0.0006 ߓ Desmosterol, mg/dL 0.17&#b1;0.007 0.18&#b1;0.006 0.09 ߓ Desmosterol/chol ratio 0.78&#b1;0.03 0.82&#b1;0.03 0.15 Markers of bile acid synthesis ߓ7 b1; cholesterol 71.3&#b1;4.5 83.9&#b1;4.3 0.005 ߓ7 b1; cholesterol/chol ratio 0.33&#b1;0.02 0.38&#b1;0.02 0.02 *Chol indicates total cholesterol; and sitosterol/chol ratio, ratio of sitosterol to total cholesterol levels. Login to comment
96 suggest that G574R carriers are at higher risk for subclinical atheroscelerosis in light of their moderately higher plant sterol levels. Login to comment
97 Yet, our results offer an intriguing suggestion that G574R carriers may actually experience lower risk. Login to comment
110 Mean (and SD) values of intima-media wall thickness (IMT, in mm) between ABCG8 G574R heterozygotes and G574G (noncarriers) (A) and carotid IMT values in heterozygotes and noncarriers by age (B). Login to comment
119 In conclusion, our study presents the first data on a large cohort of carriers of the ABCG8 G574R variant. Login to comment

PMID: 24252657 [PubMed] Yu XH et al: "ABCG5/ABCG8 in cholesterol excretion and atherosclerosis."

No. Sentence Comment

828 Horenstein et al. have demonstrated that although the G574R variant of ABCG8 is associated with moderately elevated plant sterol levels, carriers of the G574R allele have modestly thinner carotid wall thickness than noncarriers [63]. Login to comment

PMID: 24657386 [PubMed] Hansel B et al: "Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects."

No. Sentence Comment

204 They compared mean plasma levels of plant sterols and cholesterol precursors and carotid intima media wall thickness in old order Amish participants with and without one copy of the ABCG8 G574R variant. Login to comment

PMID: 18094074 [PubMed] Velamakanni S et al: "A functional steroid-binding element in an ATP-binding cassette multidrug transporter."

No. Sentence Comment

69 By analogy to the sitosterolemia-associated G574R substitution in ABCG8, Gly553 in the SxxLxxL motif was replaced by arginine (GR mutant). Login to comment