Table of analbuminemia causing mutation

# a Mutation name b Base change c   Intron/Exon Protein change d Length of the putative protein product 1st author & year of 1st report [ref.] Number of cases
1 Afula c.1A>C E-1 undefined  defect ? Caridi-2013 [18] 2 closely related families
2 Baghdad c.79+1G>A I-1 undefined splicing defect ? Campagnoli-2002 [4] 1
3 Codogno c.166C>T E-3 p.Gln56* 31 Watkins-1994 [3] 1
4 Kayseri c.228_229delAT E-3 p.Val78Cysfs*2 54 Galliano-2002 [5] 13
5 Amasya c.229_230delTG E-3 p.Val78Cysfs*2 54 Caridi-2012 [16] 1
6 Bethesda c.412C>T E-4 p.Arg138* 113 Watkins-1994 [3] 2 (unrelated)
7 Zonguldak c.597T>A E-5 splicing defect? ? Caridi-2008 [9] 1
8 Vancouver c.714-2A>G I-6 undefined splicing defect ? Watkins-1994 [3] 1
9 Seattle c.714G>A E-7 p.Trp238* 213 Rufner-1988 [1] 1
10 El Jadida c.802G>T E-7 p.Glu268* 243 Campagnoli-2005 [6] 2 (unrelated)
11 Roma c.872dupA E-8 p.Asn291Lysfs*8 273 Watkins-1994 [2] 2 (same family)
12 Bologna c.920delT E-8 p.Leu307Argfs*23 304 Dagnino-2010 [12] 1
13 Roma-2 c.1225C>T E-10 p.Gln409* 384 Campagna-2005 [7] 1
14 Monastir c.1275C>A E-10 p.Tyr425* 400 Caridi-2009 [11] 1
15 Guimarães c.1289+1G>A I- 10 p.Phe398Alafs*33 405 Caridi-2012 [15] 1
16 Fondi c.1427A>G E-11 p.Tyr476Serfs*13 463 Campagna-2005 [7] 1
17 Tripoli c.1428+1 G>T I-11 undefined splicing defect ? Bibi-2012 [17] 2 (same family)
18 Bartin c.1428+2T>C I-11 p.Leu431Tyrfs*5 410 Dolcini-2007 [8] 1
19 Tubingen c.1525C>T E-12 p.Arg509* 484 Ruhoff-2010 [14] 2 (same family)
20 Locust  Valley c.1610delT E-12 p.Ile537Asnfs*21 532 Davis-2008 [10] 1
21 Safranbolu c.1614_15delCA E-12 p.Leu540Phefs*2 516 Dagnino-2010 [13] 1
22 Ankara c.1652+1G>A I-12 p.Leu477Cysfs*4 479 Caridi-2014 [19] 1
23 Treves c.270+1G>T I-3 undefined splicing defect ? Caridi-2016 [20] 1
24 Erzurum c.527delC E-5 p.Pro176Argfs*65 239 Caridi-2016 [21] 2 (same family)

aThe mutations are ordered on the basis of their positions in the albumin gene

bThe mutations have been named after the place from where the first detected carrier originates.

cbp and codon numbering is according to HGVS rules and is based on the cDNA sequence NM_000477.5.

dThe protein changes in analbuminemia are deduced from mRNA (Guimarães , Fondi, Bartin and Ankara) or  DNA (all the others)  sequence and were not established at the protein level.  Subtract 24 from amino acid numbers to convert to starting at the Asp1 of mature albumin.