ABCMdb

ABCD1 p.Arg182Pro

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Publications

PMID: 7494402 [PubMed] Moser HW et al: "Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome."

No. Sentence Comment

29 Mutation Predicted consequence Phenotype a 1 310 C -4 T R104C AMN 2 420 G -4 A A140T Cer 3 454 C -4 T R152C Cer 4 545 G -4 C R182P Addis 5 692 G -4 C Addis 693-4 del GG Frameshift at AA 231 6 770 G -4 T G277W Cer 7 1166 G -4 A R389H AMN 8 I224 G -4 A Spl mutation at AA 408 AMN 9 1389 G --+ A R464 stop AMN 10 1411 ins A Frameshift at AA 470 AMN 11 1412-3 del AA Frameshift at AA 470 Cer 12 1415-6 del AG Frameshift at AA 472 Cer 13 1415-6 del AG Frarneshift at AA 472 Cer 14 1415-6 del AG Frameshift at AA 472 Addis 15 1415-6 del AG Frameshift at AA 472 AMN 16 t415-6 del AG Frameshift at AA 472 AMN 17 1415-6 del AG Frameshift at AA 472 Cer 18 1534 G -4 A G512S Cer 19 1698 T -4 A M567K AMN 20 t817 C -4 T $604F Addis 1548 G -4 A L516L 21 1850 G -+ A R617H AMN 22 1978 G -4 A R660W AMN ~Cer=childhoodcerebralALD; Addis=Addisondisease the multiple binding sites on bovine albumin for shorter-chain fatty acids, there is only a single binding site for C26:0. Login to comment

PMID: 7581394 [PubMed] Kok F et al: "Mutational analysis of patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

131 3' deletion 3' deletion 3' deletion 3' deletion R104C A141T R152C R182P Frameshift at AA 231 G277W R389H Spl mutation at AA 408 Q466 stop Frameshift at AA 470 Frameshift at AA 470 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 G512S M566K S606L L516L R617H R660W - - Exons 3-10 Exons 7-10 Exons 8-10 Exons 7-10 33 Anglos 5 Scott 8 Anglos 7 Anglos 11 Jewish 36 Irish 51 Italian 37 Filipino 28 Anglos 23 Anglos 11 Anglos 8 Anglos 40 Italian 22 German 4 Anglos 5 black 8 Anglos 31 Anglos 10 Anglos 28 Anglos 22 Italian 8 German 35 German 7 Hispanic 28 German 24 Anglos 18 Jewish 9 Hispanic AMNa C E R ~ Cer Add' Cer AMN AMN AMN AMN Cer Cer Cer Add AMN AMN Cer Cer Cer AMN Add AMN AMN Cer AMN Cer AMN AMN AMN 5 Cer,AMN,Add 4 Cer,AMN 1 Cer 5 Cer,AMN,Add 1 4 2 1 2 2 5 Adopted 5 2 15 1 13 2 2 1 Cer AMN AMN,Add AMN Cer,AMN Cer,AMN Cer,AMN,Add ? Login to comment

PMID: 16087056 [PubMed] Pan H et al: "ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

94 RFLP Associated Phenotype Missense mutations A30 1 421 GϾA A141T CCALD A23 1 545 GϾC R182P CCALD A14 1 796 GϾA G266R‡ CCALD A18 1 847 CϾG H283D†§ - Nsp I CCALD A32 1 871 GϾA E291K‡ CCALD A28 1 887 AϾG Y296C ACALD A21 2 1028 GϾT G343V*‡§ - Ava I ACALD A20 2, 3 1047 CϾA V349V*§ ϩ Rsa I CCALD 1210 TϾC S404P†‡ A6 6 1526 AϾT N509I†‡ CCALD A26 6 1529 GϾA G510D*§ - Bg1 I ACALD A1 6 1552 CϾG R518G†‡§ - Msp I CCALD A24 6 1548 GϾA L516L‡ CCALD 1553 GϾA R518Q‡ A10 6 1553 GϾA R518Q‡ CCALD A7 6 1559 TϾA L520Q CCALD A12 7 1661 GϾA R554H‡ CCALD A19 7 1667 AϾG Q556R‡ AMN A16 8 1814 TϾA L605Q*§ ϩ BstX I CCALD A17 8 1817 CϾT S606L CCALD A2 8 1849 CϾT R617C‡ AO A15 8 1849 CϾG R617G CCALD Nonsense mutations A11 1 396 GϾA W132X‡ CCALD A3 1 726 GϾA W242X CCALD A34 4 1390 CϾT R464X‡ CCALD A8 8 1785 GϾA W595X‡ CCALD Frameshift mutations A29 1 385 ins G fs R128* ACALD A27 2 937 del C fs D312 CCALD A13 5 1415 del AG fs E471 ACALD A22 6 1603 del CC fs P534* CCALD Amino acid insertion A33 1 240-241ins9 R80-L81insPAA* CCALD Splicing defect A5 IVS1 IVS1 ϩ1 gϾt CCALD A31 IVS3 IVS3 ϩ2 cϾt CCALD A25 IVS5 IVS5 -6 delc†‡ ACALD Synonymous mutation A4 2, 6 1047 CϾA V349V‡ CCALD 1548 GϾA L516L‡ A9 2, 6 1047 CϾA V349V‡ CCALD 1548 GϾA L516L‡ * The mutation was novel. Login to comment
95 RFLP Associated Phenotype Missense mutations A30 1 421 Gb0e;A A141T CCALD A23 1 545 Gb0e;C R182P CCALD A14 1 796 Gb0e;A G266Rߥ CCALD A18 1 847 Cb0e;G H283Dߤ&#a7; afa; Nsp I CCALD A32 1 871 Gb0e;A E291Kߥ CCALD A28 1 887 Ab0e;G Y296C ACALD A21 2 1028 Gb0e;T G343V*ߥ&#a7; afa; Ava I ACALD A20 2, 3 1047 Cb0e;A V349V*&#a7; af9; Rsa I CCALD 1210 Tb0e;C S404Pߤߥ A6 6 1526 Ab0e;T N509Iߤߥ CCALD A26 6 1529 Gb0e;A G510D*&#a7; afa; Bg1 I ACALD A1 6 1552 Cb0e;G R518Gߤߥ&#a7; afa; Msp I CCALD A24 6 1548 Gb0e;A L516Lߥ CCALD 1553 Gb0e;A R518Qߥ A10 6 1553 Gb0e;A R518Qߥ CCALD A7 6 1559 Tb0e;A L520Q CCALD A12 7 1661 Gb0e;A R554Hߥ CCALD A19 7 1667 Ab0e;G Q556Rߥ AMN A16 8 1814 Tb0e;A L605Q*&#a7; af9; BstX I CCALD A17 8 1817 Cb0e;T S606L CCALD A2 8 1849 Cb0e;T R617Cߥ AO A15 8 1849 Cb0e;G R617G CCALD Nonsense mutations A11 1 396 Gb0e;A W132Xߥ CCALD A3 1 726 Gb0e;A W242X CCALD A34 4 1390 Cb0e;T R464Xߥ CCALD A8 8 1785 Gb0e;A W595Xߥ CCALD Frameshift mutations A29 1 385 ins G fs R128* ACALD A27 2 937 del C fs D312 CCALD A13 5 1415 del AG fs E471 ACALD A22 6 1603 del CC fs P534* CCALD Amino acid insertion A33 1 240-241ins9 R80-L81insPAA* CCALD Splicing defect A5 IVS1 IVS1 af9;1 gb0e;t CCALD A31 IVS3 IVS3 af9;2 cb0e;t CCALD A25 IVS5 IVS5 afa;6 delcߤߥ ACALD Synonymous mutation A4 2, 6 1047 Cb0e;A V349Vߥ CCALD 1548 Gb0e;A L516Lߥ A9 2, 6 1047 Cb0e;A V349Vߥ CCALD 1548 Gb0e;A L516Lߥ * The mutation was novel. Login to comment