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NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) AND APOLIPOPROTEIN C-II (SAN FRANCISCO)

Significance: Pathogenic
ClinVar: RCV000002698

Variant: NM_000483.5(APOC2):c.178G>A (p.Glu60Lys)

Type: Variant
Allele: NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) 17621
Gene:
Type: single nucleotide variant
Location: Chr19: 45452080 - assembly GRCh37
Chr19: 44948823 - assembly GRCh38
References: dbSNP: 5122
OMIM: 608083.0010
UniProtKB: P02655#VAR_000641

Condition

Disease: APOLIPOPROTEIN C-II (SAN FRANCISCO)

Citation

    In 3 unrelated patients with hyperlipidemia, Pullinger et al. (1993) found heterozygosity for a G-A change in the APOC2 gene, resulting in a glu38-to-lys (E38K) substitution. The new variant was referred to as apolipoprotein C-II (San Francisco). The mutation imparted to the apoC-II molecule a major change in charge, but functional studies showed no change in enzyme activity. The authors termed the modified protein a 'charge variant isoform.' Each patient had hypercholesterolemia and hypertriglyceridemia, and 1 patient was also found to have the Q55K (608083.0001) mutation. The change was not identified in 192 controls DNA samples, and is thus not a common polymorphism. Pullinger et al. (1993) noted that the relation of the San Francisco APOC2 variant to the subjects with hyperlipidemia was unclear.
PMID:8490626