Table 1.

Table of analbuminemia causing variants.

#a	Variant nameb	Intron/exon	dbSNP (#rs)	Nucleotide changec	Protein changed	Reference (the first report describing the variant)	Number of cases
1	Afula	E-1		c.1A>C	Undefined defect	Caridi et al., 2013	2 (closely related) families
2	Baghdad	I-1	rs77408163	c.79+1G>A	Undefined splicing defect	Campagnoli et al., 2002	1
3	Madeira	I-2		c.138-2A>G	Undefined splicing defect	Caridi et al., 2018a	1
4	Codogno	E-3	rs75470261	c.166C>T	p.Gln56Ter	Watkins et al., 1994b	1
5	Kayseri	E-3	rs75152012	c.228_229del	p.Val78Cysfs∗2	Galliano et al., 2002	14
6	Amasya	E-3		c.229_230del	p.Val78Cysfs∗2	Caridi et al., 2012a	1
7	Treves	I-3		c.270+1G>T	Undefined splicing defect	Caridi et al., 2016b	1
8	Bethesda	E-4	rs77238412	c.412C>T	p.Arg138Ter	Watkins et al., 1994b	2
9	Erzurum	E-5		c.527del	p.Pro176Argfs∗65	Caridi et al., 2016a	2 (same family)
10	Zonguldak	E-5	rs281860282	c.597T>A	Undefined splicing defect?	Caridi et al., 2008	1
11	Nijmegen-2	E-5	rs773532821	c.615G>A	Undefined splicing defect	Unpublished	1
12	Vancouver	I-6	rs77335374	c.714-2A>G	Undefined splicing defect	Ruffner and Dugaiczyk, 1988	1
13	Seattle	E-7	rs76454301	c.714G>A	p.Trp238Ter	Watkins et al., 1994b	1
14	El Jadida	E-7	rs78340021	c.802G>T	p.Glu268Ter	Campagnoli et al., 2005b	2
15	Roma	E-8	rs77449454	c.872dup	p.Asn291Lysfs∗8	Watkins et al., 1994a	2 (same family)
16	Bologna	E-8		c.920del	p.Leu307Argfs∗23	Dagnino et al., 2010b	1
17	Ghazaouet	E-9		c.1098dup	p.Val367fs∗12	Caridi et al., 2019	2 (same family)
18	Roma-2	E-10		c.1225C>T	p.Gln409Ter	Campagna et al., 2005	1
19	Monastir	E-10	rs281860283	c.1275C>A	p.Tyr425Ter	Caridi et al., 2009	1
20	Guimarães	I-10	rs779988470	c.1289+1G>A	p.Phe398Alafs∗33	Caridi et al., 2012b	2 + 2 (same family)
21	Fondi	E-11	rs398089012	c.1427A>G	p.Tyr476Serfs∗13	Campagna et al., 2005	1
22	Tripoli	I-11		c.1428+1G>T	Undefined splicing defect	Bibi et al., 2012	2 (same family)
23	Bartin	I-11	rs78784172	c.1428+2T>C	p.Leu431Tyrfs∗5	Dolcini et al., 2007	1
24	Tubingen	E-12	rs78696173	c.1525C>T	p.Arg509Ter	Ruhoff et al., 2010	2 (same family)
25	Locust Valley	E-12	rs77081291	c.1610del	p.Ile537Asnfs∗21	Davis et al., 2008	1
26	Safranbolu	E-12		c.1614_1615del	p.Leu540Phefs∗2	Dagnino et al., 2010a	2
27	Ankara	I-12		c.1652+1G>A	p.Leu477Cysfs∗4	Caridi et al., 2014	1

^aThe variants are ordered on the basis of their positions in the albumin gene. ^bThe variants 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_000477.6. ^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.