ABCMdb

PMID: 12111381

Guo Z, Inazu A, Yu W, Suzumura T, Okamoto M, Nohara A, Higashikata T, Sano R, Wakasugi K, Hayakawa T, Yoshida K, Suehiro T, Schmitz G, Mabuchi H
Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.
J Hum Genet. 2002;47(6):325-9., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCA1 p.Asn935His The second patient was homozygous for a novel mutation of A3198C in exon 19, resulting in Asn935His. Login to comment 5 ABCA1 p.Asn935Ser The third patient was homozygous for A3199G of exon 19 that leads to Asn935Ser, which is the same mutation found in German and Spanish families. Login to comment 52 ABCA1 p.Asn935His The A3198C mutation in exon 19 found in case 2 had resulted in a change of Asn935His. Login to comment 64 ABCA1 p.Asn935His Case 2, homozygous for the AϾC mutation at 3198 (Asn935His), as shown in the left panel, was detected by PCR-RFLP using NlaIII digestion in the right panel. Login to comment 65 ABCA1 p.Asn935Ser Case 3, homozygous for the AϾG mutation at 3199 (Asn935Ser), as shown in the left panel, was confirmed by PCR-RFLP using DdeI digestion on 10% polyacrylamide gel in the right panel. Login to comment 68 ABCA1 p.Asn935Ser The mutation in case 3 was A3199G of exon 19, resulting in a change of Asn935Ser. Login to comment 76 ABCA1 p.Asn935His The second patient had a novel mutation of Asn935His. Login to comment 77 ABCA1 p.Asn935Ser The Asn935Ser mutation in the third case showed atypical clinical signs, such as an obsessive-compulsive disorder and lower intelligence, in addition to the typical features. Login to comment 78 ABCA1 p.Asn935Ser The mutation of Asn935Ser in the third patient was the same as that of German and Spanish families (Bodzioch et al. 1999; Utech et al. 2001), which suggests that it is a recurrent mutation and that they did not have cognitive disorders. Login to comment 86 ABCA1 p.Ala937Val ABCA1 p.Ala1046Asp The Ala937Val mutation in Walker A motif (Bodzioch et al. 1999) and Ala1046Asp near Walker B motif (Wang et al. 2000) of the first NBF have been reported. Login to comment