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Genetic variants of human serum albumin reference list

1. Brennan, S.O., Arai, K., Madison, J., Laurell, C.B., Galliano, M., Watkins, S., Peach, R., Myles, T., George, P. & Putnam, F.W. (1990) Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene. Proc. Natl. Acad. Sci. USA 87, 3909-3913.

2. Brand, S., Hutchinson, D.W. & Donaldson, D. (1984) Albumin Redhill, a human albumin variant. Clin. Chim. Acta 136, 197-202.

3. Hutchinson, D.W. & Matejtschuk, P. (1985) The N-terminal sequence of albumin Redhill, a variant of human serum albumin. FEBS Lett. 193, 211-212.

4. Brennan, S.O., Myles, T., Peach, R.J., Donaldson, D. & George, P.M. (1990) Albumin Redhill (‒1Arg, 320Ala→Thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site. Proc. Natl. Acad. Sci. USA 87, 26-30.

5. Carlson, J., Sakamoto, Y., Laurell, C.B., Madison, J., Watkins, S. & Putnam, F.W. (1992) Alloalbuminemia in Sweden: Structural study and phenotypic distribution of nine albumin variants. Proc. Natl. Acad. Sci. USA 89, 8225-8229.

6. Minchiotti, L., Kragh-Hansen, U., Nielsen, H., Hardy, E., Mercier, A.-Y. & Galliano, M. (1999) Structural characterization, stability and fatty acid-binding properties of two French genetic variants of human serum albumin. Biochim. Biophys. Acta 1431, 223-231.

7. Abdo, Y., Rousseaux, J. & Dautrevaux, M. (1981) Proalbumin Lille, a new variant of human serum albumin. FEBS Lett. 131, 286-288.

8. Galliano, M., Minchiotti, L., Ferri, G., Iadarola, P., Zapponi, M.C. & Fine, J.M. (1984) Structural characterization of the human albumin variant “Pollibauer”. Rev. Fr. Transfus. Immuno-Hematol. 27, 597-602.

9. Matsuda, Y., Ogushi, F., Ogawa, K. & Katunuma, N. (1986) Structure and properties of albumin Tokushima and its proteolytic processing by cathepsin B in vitro. J. Biochem. (Tokyo) 100, 375-379.

10.Takahashi, N., Takahashi, Y. & Putnam, F.W. (1987) Structural changes and metal binding by proalbumins and other amino-terminal genetic variants of human serum albumin. Proc. Natl. Acad. Sci. USA 84, 7403-7407.

11. Arai, K., Ishioka, N., Huss, K., Madison, J. & Putnam, F.W. (1989) Identical structural changes in inherited albumin variants from different populations. Proc. Natl. Acad. Sci. USA 86, 434-438.

12. Galliano, M., Minchiotti, L., Porta, F., Rossi, A., Ferri, G., Madison, J., Watkins, S. & Putnam, F.W. (1990) Mutations in genetic variants of human serum albumin found in Italy. Proc. Natl. Acad. Sci. USA 87, 8721-8725.

13. Zan, W.C., Xu, W.F. & Chi, C.W. (1993) Protein and gene structure analysis of an albumin genetic variant: Proalbumin Wu Yang (‒2 Arg→His). Int. J. Pept. Protein Res. 41, 441-446.

14. Madison, J., Arai, K., Sakamoto, Y., Feld, R.D., Kyle, R.A., Watkins, S., Davis, E., Matsuda, Y., Amaki, I. & Putnam, F.W. (1991) Genetic variants of serum albumin in Americans and Japanese. Proc. Natl. Acad. Sci. USA 88, 9853-9857.

15. Galliano, M., Kragh-Hansen, U., Tárnoky, A.L., Chapman, J.C., Campagnoli, M. & Minchiotti, L. (1999) Genetic variants showing apparent hot-spots in the human serum albumin gene. Clin. Chim. Acta 289, 45-55.

16. Brennan, S.O. & Carrell, R.W. (1978) A circulating variant of human proalbumin. Nature 274, 908-909.

17. Fine, J.M., Abdo, Y., Rochu, D., Rousseaux, J. & Dautrevaux, M. (1983) Identification of the human albumin variant “Gainesville” with proalbumin “Christchurch”. Rev. Fr. Transfus. Immuno-Hematol. 26, 341-346.

18. Arai, K., Madison, J., Shimizu, A. & Putnam, F.W. (1990) Point substitutions in albumin genetic variants from Asia. Proc. Natl. Acad. Sci. USA 87, 497-501.

19. Arai, K., Madison, J., Huss, K., Ishioka, N., Satoh, C., Fujita, M., Neel, J.V., Sakurabayashi, I. & Putnam, F.W. (1989) Point substitutions in Japanese alloalbumins. Proc. Natl. Acad. Sci. USA 86, 6092-6096

20. Dodig, S., Cepelak, I., Benko, B., Raos, M. & Branovic, K. (2000) Bisalbuminemia in two Croatian families. Arch. Med. Res. 31, 608-612.

21. Kragh-Hansen, U., Campagnoli, M., Dodig, S., Nielsen, H., Benko, B., Raos, M., Cesati, R., Sala, A., Galliano, M. Minchiotti, L. (2004) Structural analysis and fatty acid-binding properties of two Croatian variants of human serum albumin. Clin. Chim. Acta 349, 105-112.

22. Galliano, M., Minchiotti, L., Stoppini, M. & Tàrnoky, A.L. (1989) A new proalbumin variant: albumin Jaffna (‒1 Arg→Leu). FEBS Lett. 255, 295-299.

23. Brennan, S.O., Peach, R.J. & Boswell, D.R. (1989) Novel human proalbumin variant with intact dibasic sequence facilitates identification of its converting enzyme. Biochim. Biophys. Acta 993, 48-50.

24. Kragh-Hansen, U., Saito, S., Nishi, K., Anrako, M. & Otagiri, M. (2005) Effect of genetic variation on the thermal stability of human serum albumin. Biochim. Biophys. Acta 1747, 81-88.

25. Madison, J., Galliano, M., Watkins, S., Minchiotti, L., Porta, F., Rossi, A. & Putnam, F.W. (1994) Genetic variants of human serum albumin in Italy: point mutations and a carboxy-terminal variant. Proc. Natl. Acad. Sci. USA 91, 6476-6480.

26. Sakamoto, Y., Kitamura, K., Madison, J., Watkins, S., Laurell, C.B., Nomura, M., Higashiyama, T. & Putnam, F.W. (1995) Structural study of the glycosylated and unglycosylated forms of a genetic variant of human serum albumin (63 Asp→Asn). Biochim. Biophys. Acta 1252, 209-215.

27. Sunthornthepvarakul, T., Likitmaskul, S., Ngowngarmratana, S., Angsusingha, K., Kitvitayasak, S., Scherberg, N.H. & Refetoff, S. (1998) Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. J. Clin. Endocrinol. Metab. 83, 1448-1454.

28. Takahashi, N., Takahashi, Y., Isobe, T., Putnam, F.W., Fujita, M., Satoh, C. & Neel, J.V. (1987) Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations. Proc. Natl. Acad. Sci. USA 84, 8001-8005.

29. Lorey, F.W., Ahlfors, C.E., Smith, D.G. & Neel, J.V. (1984) Bilirubin binding by variant albumins in Yanomama Indians, Am. J. Hum. Genet. 36, 1112-1120.

30. Minchiotti, L., Watkins, S., Madison, J., Putnam, F.W., Kragh-Hansen, U., Amoresano, A., Pucci, P., Cesati, R. & Galliano, M. (1997) Structural characterization of four genetic variants of human serum albumin associated with alloalbuminemia in Italy. Eur. J. Biochem. 247, 476-482.

31. Iwao, Y., Hiraike, M., Kragh-Hansen, U., Mera, K., Noguchi, T., Anraku, M., Kawai, K., Maruyama, T. & Otagiri, M. (2007) Changes of net charge and α-helical content affect the pharmacokinetic properties of human serum albumin. Biochim. Biophys. Acta 1774, 1582-1590.

32. Minchiotti, L., Galliano, M., Kragh-Hansen, U., Watkins, S., Madison, J. & Putnam, F.W. (1995) A genetic variant of albumin (albumin Asola; Tyr140→Cys) with no free –SH group but with an additional disulfide bridge. Eur. J. Biochem. 228, 155-159.

33. Kim, Y.-H., Lee, Y.-W., Jeon, B.R., Lee, Y.K., Shin, H.B., Kang, D.H., Park, S.K., Hong, D.S., Lee, S.-T., Kim, J.-W. & Ki, C.S. (2010) Clinical characteristics and ALB gene mutation analysis of Korean patients with bisalbuminemia. Korean J. Lab. Med. 30, 307-311.

34. Brennan, S.O. & Fellowes, A.P. (1993) Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. Biochim. Biophys. Acta 1182, 46-50.

35. Petersen, C.E., Scottolini, A.G., Cody, L.R., Mandel, M., Reimer, N. & Bhagavan, N.V. (1994) A point mutation in the human serum albumin gene results in failial dysalbuminaemic hyperthyroxinaemia. J. Med. Genet. 31, 355-359.

36. Sunthornthepvarakul, T., Angkeow, P., Weiss, R.E., Hayashi, Y. & Refetoff, S. (1994) An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem. Biopys. Res. Commun. 202, 781-787.

37. Petersen, C.E., Ha, C.-E., Mandel, M. & Bhagavan, N.V. (1995) Expression of a human serum albumin variant with high affinity for thyroxine. Biochem. Biophys. Res. Commun. 214, 1121-1129.

38. Petersen, C.E., Ha, C.-E., Harohalli, K., Park, D.S. Bhagavan, N.V. (2000) Familial dysalbuminemic hyperthyroxinemia may result in altered warfarin pharmacokinetics. Chem. Biol. Interact. 124, 161-172.

39. Wada, N., Chiba, H., Shimizu, C., Kijima, H., Kubo, M. & Koike, T. (1997) A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J. Clin. Endocrinol. Metab. 82, 3246-3250.

40. Pannain, S., Feldman, M., Eiholzer, U., Weiss, R.E., Scherberg, N.H. & Refetoff S. (2000) Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. J. Clin. Endocrinol. Metab. 85, 2786-2792.

41. Franco, M.H.L.P., Brennan, S.O., Chua, E.K.M., Kragh-Hansen, U., Callegari-Jacques, S.M., Bezerra, M.Z.P.J. & Salzano, F.M. (1999) Albumin genetic variability in South America: population distribution and molecular studies. Am. J. Hum. Biol. 11, 359-366.

42. Minchiotti, L., Galliano, M., Zapponi, M.C. & Tenni, R. (1993) The structural characterization and bilirubin-binding properties of albumin Herborn, a (Lys240→Glu) albumin mutant. Eur. J. Biochem. 214, 437-444.

43. Sugita, O., Endo, N., Yamada, T., Yamaka, M. & Odani, S. (1987) The molecular abnormality of albumin Niigata: 269 Asp→Gly. Clin. Chim. Acta 164, 251-259.

44. Kragh-Hansen, U., Minchiotti, L., Brennan, S.O. & Sugita, O. (1990) Hormone binding to natural mutants of human serum albumin. Eur. J. Biochem. 193, 169-174.

45. Galliano, M., Minchiotti, L., Iadarola, P., Stoppini, M., Ferri, G. & Castellani, A.A. (1986) The molecular defect of albumin Tagliacozzo: 313 Lys→Asn. FEBS Lett. 208, 364-368.

46. Huss, K., Putnam, F.W., Takahashi, N., Takahashi, Y., Weaver, G.A. & Peters, T., Jr. (1988) Albumin Cooperstown: a serum albumin variant with the same (313 Lys→Asn) mutation found in albumins in Italy and New Zealand. Clin. Chem. 34, 183-187.

47. Brennan, S.O. & Herbert, P. (1987) Albumin Canterbury (313 Lys→Asn). A point mutation in the second domain of serum albumin. Biochim. Biophys. Acta 912, 191-197.

48. Savva, D., Li, B., Kragh-Hansen, U., Galliano, M., Minchiotti, L. & Tárnoky, A.L. (1998) Genetic variation in human serum albumin: a 313 Lys→Asn mutation in Albumin Reading identified by PCR analysis. Clin. Chim. Acta 270, 195-201.

49. Sakamoto, Y., Davis, E., Madison, J., Watkins, S., McLaughlin, H., Leahy, D.T. & Putnam, F.W. (1991) Purification and structural study of two albumin variants in an Irish population. Clin. Chim. Acta 204, 179-187.

50. Kragh-Hansen, U., Brennan, S.O., Galliano, M. & Sugita, O. (1990) Binding of warfarin, salicylate, and diazepam to genetic variants of human serum albumin with known mutations. Mol. Pharmacol. 37, 238-242.

51. Kragh-Hansen, U., Donaldson, D. & Jensen, P.H. (2001) The glycan structure of albumin Redhill, a glycosylated variant of human serum albumin. Biochim. Biophys. Acta 1550, 20-26.

52. Nielsen, H., Kragh-Hansen, U., Minchiotti, L., Galliano, M., Brennan, S.O., Tárnoky, A.L., Franco, M.H.L.P., Salzano, F.M. & Sugita, O. (1997) Effect of genetic variation on the fatty acid-binding properties of human serum albumin and proalbumin. Biochim. Biophys. Acta 1342, 191-204.

53. Galliano, M., Minchiotti, L., Iadarola, P., Ferri, G., Zapponi, M.C. & Castellani, A.A. (1988) The amino acid substitution in albumin Roma: 321 Glu→Lys. FEBS Lett. 233, 100-104.

54. Porta, F., Galliano, M. & Rossi, A. (1992) Alloalbumine come marcatore genetico in Italia. Boll. Osp. Varese 21, 580-590.

55. Minchiotti, L., Galliano, M., Stoppini, M., Ferri, G., Crespeau, H., Rochu, D. & Porta, F. (1992) Two alloalbumins with identical electrophoretic mobility are produced by differently charged amino acid substitutions. Biochim. Biophys. Acta 1119, 232-238.

56. Arai, K., Huss, K., Madison, J., Putnam, F.W., Salzano, F.M., Franco, M.H., Santos, S.E. & Freitas, M.J. (1989) Amino acid substitutions in albumin variants found in Brazil. Proc. Natl. Acad. Sci. USA 86, 1821-1825.

57. Galliano, M., Watkins, S., Madison, J., Putnam, F.W., Kragh-Hansen, U., Cesati, R. & Minchiotti, L. (1998) Structural characterization of three genetic variants of human serum albumin modified in subdomains IIB and IIIA. Eur. J. Biochem. 251, 329-334.

58. Brennan, S.O. (1985) The molecular abnormality of albumin Parklands: 365 Asp→His. Biochim. Biophys. Acta 830, 320-324.

59. Caridi, G., Dagnino, M., Simundic, A.-M., Miler, M., Stancic, V., Campagnoli, M., Galliano, M. & Minchiotti, L. (2010) Albumin Benkovac (c.1175 A>G; p.Glu392Gly): a novel genetic variant of human serum albumin. Trans. Res. 155, 118-119.

60. Franklin, S.G., Wolf, S.I., Ozdemir, Y., Yuegir, G.T., Isbir, T. & Blumberg, B.S. (1980) Albumin Naskapi variant in North American Indians and Eti Turks. Proc. Natl. Acad. Sci. USA 77, 5480-5482.

61. Takahashi, N., Takahashi, Y., Blumberg, B.S. & Putnam, F.W. (1987) Amino acid substitutions in genetic variants of human serum albumin and in sequences inferred from molecular cloning. Proc. Natl. Acad. Sci. USA 84, 4413-4417.

62. Galliano, M., Rossi, A., Porta, F. & Minchiotti, L. (1995) Genetic variants of human serum albumin: molecular defects and biological stability. Int. J. Clin. Pharmacol. Res. 15, 45-55.

63. Ishima, Y., Sawa, T., Kragh-Hansen, U., Miyamoto, Y., Matsushita, S., Akaike, T. & Otagiri, M. (2007) S-nitrosylation of human variant albumin Liprizzi (R410C) confers potent antibacterial and cytoprotective properties. J. Pharmacol. Exp. Ther. 320, 969-977.

64. Peach, R.J. & Brennan, S.O. (1991) Structural characterization of a glycoprotein variant of human serum albumin: albumin Casebrook (494 Asp→Asn). Biochim. Biophys. Acta 1097, 49-54.

65. Haynes, P.A., Batley, M., Peach, R.J., Brennan, S.O. & Redmond, J.W. (1992) Characterisation of oligosaccharides from a glycoprotein variant of human serum albumin (albumin Casebrook) using high-performance anion-exchange chromatography and nuclear magnetic resonance spectroscopy. J. Chromatogr. 581, 187-193.

66. Iwao, Y., Hiraike, M., Kragh-Hansen, U., Kawai, K., Suenaga, A., Maruyama, T. & Otagiri, M. (2009) Altered chain-length and glycosylation modify the pharmacokinetics of human serum albumin. Biochim. Biophys. Acta 1794, 634-641.

67. Huss, K., Madison, J., Ishioka, N., Takahashi, N., Arai, K. & Putnam, F.W. (1988) The same substitution, glutamic acid→lysine at position 501, occurs in three alloalbumins of Asiatic origin: albumins Vancouver, Birmingham, and Adana. Proc. Natl. Acad. Sci. USA 85, 6692-6696.

68. Savva, D., Tárnoky, A.L. & Vickers, M.F. (1990) Genetic characterization of an alloalbumin, albumin Kashmir, using gene amplification and allele-specific oligonucleotides. Biochem. J. 266, 615-617.

69. Tárnoky, A.L., Vickers, M.F. & Savva, D. (1992) Genetic variants of serum albumin: A study of albumin Kashmir. Indian J. Biochem. Biophys. 29, 383-387.

70. Galliano, M., Minchiotti, L., Iadarola, P., Stoppini, M., Giagnoni, P., Watkins, S., Madison, J. & Putnam, F.W. (1993) Protein and DNA sequence analysis of a “private” genetic variant: albumin Ortonovo (Glu-505→Lys). Biochim. Biophys. Acta 1225, 27-32.

71. Brennan, S.O., Potter, H.C. & Hanss, M. (2016) Bisalbuminaemia due to novel mutation at a critical residue involved in recycling; Albumin Lyon (510His→Arg). Clin. Biochem. In press.

72. Minchiotti, L., Galliano, M., Iadarola, P., Zepponi, E. & Ferri, G. (1990) The molecular defect of albumin Castel di Sangro: 536 Lys→Glu. Biochim. Biophys. Acta 1039, 204-208.

73. Brennan, S.O., Potter, H.C., Sheen, C.R. & George, P.M. (2016) Unique albumin with two silent substitution (540Thr→Ala and 546 Ala→Ser). Clin. Chim. Acta. In press.

74. Chua, E.K., Brennan, S.O. & George, P.M. (1998) Albumin Church Bay: 560 Lys→Glu a new mutation detected by electrospray ionization mass spectrometry. Biochim. Biophys. Acta 1382, 305-310.

75. Kragh-Hansen, U., Minchiotti, L., Galliano, M. & Peters, T. Jr. (2013) Human serum albumin isoforms: genetic and molecular aspects and functional consequences. Biochim. Biophys. Acta. 1830, 5405-5417.

76. Earle, D.P., Hutt, M.P., Schmid, K. & Gitlin, D. (1959) Observations on double albumin: a genetically transmitted serum protein anomaly. J. Clin. Invest. 38, 1412-1420.

77. Gitlin, D., Schmid, K., Earle, D.P. & Givelber, H. (1961) Observations on double albumin. II. A peptide difference between two genetically determined human serum albumins. J. Clin. Invest. 40, 820-827.

78. Winter, W.P., Weitkamp, L.R. & Rucknagel, D.L. (1972) Amino acid substitution in two identical inherited human serum albumin variants: albumin Oliphant and albumin Ann Arbor. Biochemistry 11, 889-896.

79. Minchiotti, L., Galliano, M., Iadarola, P., Stoppini, M., Ferri, G. & Castellani, A.A. (1987) Structural characterization of two genetic variants of human serum albumin. Biochim. Biophys. Acta 916, 411-418.

80. Peach, R.J., Fellowes, A.P., Brennan, S.O. & George, P.M. (1992) Albumin Rugby Park: a truncated albumin variant caused by a G→C splice-site mutation in intron 13. Biochim. Biophys. Acta 1180, 107-110.

81. Brennan, S.O., Fellowes, A.P. & George, P.M. (1999) Albumin Banks Peninsula: a new termination variant characterized by electrospray mass spectrometry. Biochim. Biophys. Acta 1433, 321-326.

82. Iadarola, P., Minchiotti, L. & Galliano, M. (1985) Localization of the amino acid substitution site in a fast migrating variant of human serum albumin. FEBS Lett. 180, 85-88.

83. Minchiotti, L., Campagnoli, M., Rossi, A., Cosulich, M.E., Monti, M., Pucci, P., Kragh-Hansen, U., Granel, B., Disdier, P., Weiller, P.-J. & Galliano, M. (2001) A nucleotide insertion and frameshift cause albumin Kénitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges. Eur. J. Biochem. 268, 344-352.

84. Galliano, M., Minchiotti, L., Iadarola, P., Zapponi, M.C., Ferri, G. & Castellani, A.A. (1986) Structural characterization of a chain termination mutant of human serum albumin. J. Biol. Chem. 261, 4283-4287.

85. Watkins, S., Madison, J., Davis, E., Sakamoto, Y., Galliano, M., Minchiotti, L. & Putnam, F.W. (1991) A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin. Proc. Natl. Acad. Sci. USA 88, 5959-5963.

86. Minchiotti, L., Galliano, M., Iadarola, P., Meloni, M.L., Ferri, G., Porta, F. & Castellani, A.A. (1989) The molecular defect in a COOH-terminal-modified and shortened mutant of human serum albumin. J. Biol. Chem. 264, 3385-3389.

87. Minghetti, P.P., Ruffner, D.E., Kuang, W.J., Dennison, O.E., Hawkins, J.W., Beattie, W.G. & Dugaiczyk, A. (1986) Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J. Biol. Chem. 261, 6747-6757.

88. Brennan, S.O., Rollo, C. & Potter, H.C. (2015) Novel silent albumin variant (191Ala→Thr) detected by TOF MS of whole plasma. Clin. Chim. Acta. 440, 40–43.

89. Greenberg, S.M., Ferrara, A.M., Nicholas,E.S., Dumitrescu, A.M., Cody, V., Weiss, R.E. & Refetoff, S. (2014) A Novel Mutation in the Albumin Gene (R218S) Causing Familial Dysalbuminemic Hyperthyroxinemia in a Family of Bangladeshi Extraction. Thyroid 24(6), 945-950.

90. Schoenmakers,  N., Moran, C., Campi, I., Agostini ,M., Bacon, O., Rajanayagam, O., Schwabe, J., Bradbury, S., Barrett, T., Geoghegan, F., Druce, M., Beck-Peccoz, P., O'Toole, A., Clark, P., Bignell, M., Lyons, G., Halsall, D., Gurnell, M. & Chatterjee, K. (2014) A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. J. Clin. Endocrinol. Metab. 99(7), E1381-1386.

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Revised 24.11.2017