This allele confers decreased HDL cholesterol compared to NZB/BlNJ. Sequencing revealed some splice site variants and one polymorphism changing the amino acid from aspartic acid to glycine at amino acid 94. This polymorphism changes both the charge and polarity of the amino acid and is in a highly conserved region of the protein. (J:164460)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count