ABCMdb

PMID: 26546829

Ramasamy I
Update on the molecular biology of dyslipidemias.
Clin Chim Acta. 2015 Nov 4. pii: S0009-8981(15)30036-X. doi: 10.1016/j.cca.2015.10.033., [PubMed]

Sentences

No. Mutations Sentence Comment

1022 ABCA1 p.Ala175Pro Genetic analysis of the apoAI gene revealed three missense mutations A175P, F71Y, E34K and a frameshift mutation H155MfsX46 which were associated with amyloidosis (459). Login to comment 1051 ABCA1 p.Arg1270* A patient homozygous for the R1270X in the ABCA1 gene mutation presented with a bleeding tendency and anemia secondary to spontaneous splenic hematoma (468). Login to comment 1056 ABCA1 p.Leu1379Phe ABCA1 p.Val1704Asp Severe HDL deficiency in a patient was caused by two autosomal recessive mutations of ABCA1, one predicted to lie in the transmembrane segment (V1704D) and the other (L1379F) in the extracellular loop. Login to comment 1058 ABCA1 p.Trp590Ser The mutant W590S has a near-normal apolipoprotein binding activity but defective lipid transport (471). Login to comment 1061 ABCA1 p.Gln1038* ABCA1 p.Thr940Met One patient was identified to be homozygous for a nonsense mutation p. Q1038X, a further kindred showed compound heterozygosity for missense variants p. R937V and p.T940M, and a third pedigree was compound heterozygous for a frameshift variant p.I1200Hfs*4 and an intronic variant that lead to the creation of a cryptic splice site and premature truncation p. S1392Rfs*6. Login to comment 1064 ABCA1 p.Tyr1532Cys ABCA1 p.Ala1046Asp ABCA1 p.Trp1699Cys All three mutations p.A1046D, p. Y1532C and p. W1699C were reported to be deleterious in functional studies (473). Login to comment