ABCMdb

PMID: 23684896

Condat B, Zanditenas D, Barbu V, Hauuy MP, Parfait B, El Naggar A, Collot V, Bonnet J, Ngo Y, Maftouh A, Dugue L, Balian C, Charlier A, Blazquez M, Rosmorduc O
Prevalence of low phospholipid-associated cholelithiasis in young female patients.
Dig Liver Dis. 2013 Nov;45(11):915-9. doi: 10.1016/j.dld.2013.04.002. Epub 2013 May 16., [PubMed]

Sentences

No. Mutations Sentence Comment

61 ABCB4 p.Arg590Gln ABCB4 p.Asn510Ser Heterozygous ABCB4 gene mutations were detected in 4 patients (29%): a point mutation in the coding region (NP 000434.1: p.Arg590Gln; p.Asn510Ser) in 2 cases, a sequence variation of a RNAn splicing site (c.3486+10 dupA) whose effect on the protein is unknown in one case and a deletion of exon 10, resulting in the absence of 38 amino acids, a region carrying the entire 6th transmembrane domain of the protein (NP 000434, p.Val336 Asn373del) in one case. Login to comment 62 ABCB11 p.Val444Ala ABCB4 p.Arg590Gln ABCB4 p.Asn510Ser ABCB11 p.Val43Ile Molecular analysis of the ABCB11 gene also showed variants in 4 patients (29%): a homozygous known polymorphic mutation (NP 003733: p.Val444Ala) in three cases and a heterozygous point mutation (NP 003733: p.Val43Ile) reported as a tolerated variant by protein prediction software in one case. Login to comment 63 ABCB11 p.Val444Ala ABCB11 p.Val43Ile Molecular analysis of the ABCB11 gene also showed variants in 4 patients (29%): a homozygous known polymorphic mutation (NP 003733: p.Val444Ala) in three cases and a heterozygous point mutation (NP 003733: p.Val43Ile) reported as a tolerated variant by protein prediction software in one case. Login to comment 101 ABCB11 p.Val444Ala ABCB4 p.Arg590Gln ABCB4 p.Asn510Ser ABCB11 p.Val43Ile [18] 1 Exon 10 c.1006-162 1119+706del p.Val336 Asn373del Absence of 6th transmembrane domain [12] 1 Exon 13 c.1529A>G HTZ p.Asn510Ser HTZ Missense; IC3 Domain; deleterious according to SIFT None 1 Exon 15 c.1769G>A HTZ p.Arg590Gln HTZ Missense IC3 Domain; deleterious according to SIFT; rs45575636 [19] Exon involved NM 003742.2 (ABCB11) NP 003733 (BSEP) Consequences Bibliography 1 Exon 4 c.127G>A HTZ p.Val43Ile HTZ Missense; N-Ter Domain; tolerated according to SIFT None 3 Exon 13 c.1331T>C HMZ p.Val444Ala HMZ Missense IC3 Domain; tolerated according to SIFT; rs2287622 [14] Table 3 Characteristics of patients with low phospholipid associated cholelithiasis with and without ABCB4 or ABCB11 mutations. Login to comment 102 ABCB11 p.Val444Ala ABCB4 p.Arg590Gln ABCB4 p.Asn510Ser ABCB11 p.Val43Ile [18] 1 Exon 10 c.1006-162 1119+706del p.Val336 Asn373del Absence of 6th transmembrane domain [12] 1 Exon 13 c.1529A>G HTZ p.Asn510Ser HTZ Missense; IC3 Domain; deleterious according to SIFT None 1 Exon 15 c.1769G>A HTZ p.Arg590Gln HTZ Missense IC3 Domain; deleterious according to SIFT; rs45575636 [19] Exon involved NM 003742.2 (ABCB11) NP 003733 (BSEP) Consequences Bibliography 1 Exon 4 c.127G>A HTZ p.Val43Ile HTZ Missense; N-Ter Domain; tolerated according to SIFT None 3 Exon 13 c.1331T>C HMZ p.Val444Ala HMZ Missense IC3 Domain; tolerated according to SIFT; rs2287622 [14] Table 3 Characteristics of patients with low phospholipid associated cholelithiasis with and without ABCB4 or ABCB11 mutations. Login to comment