Related Experiment Video
Updated: Aug 11, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
The frequency of "rare" protein variants in Marshall islanders and other Micronesians
Abstract:
Blood specimens from a sample of 373 Marshall Islanders were studied with reference to variants of 23 serum proteins and erythrocyte enzymes. Six of the traits studied exhibited genetic polymorphisms (adenosine deaminase, phosphoglucomutase1, acid phosphatase, 6-phosphogluconate dehydrogenase, haptoglobin, and group specific component). There were in addition four "rare" variants (albumin, transferrin, lactate dehydrogenase, and galactose-1-phosphate uridylyltransferase) involving nine persons, among 8,503 determinations. The frequency of rare variants in Micronesians was compared with the frequencies in West European Caucasians and Amerindians. There are many difficulties in such comparisons, and although the observed values for the three ethnic groups differ by a factor of three (the Micronesians exhibiting the lowest frequency), it is felt that no firm conclusions concerning differences between ethnic groups can be drawn at this time.
Related Concept Videos
Mutation, Gene Flow, and Genetic Drift
Animal Mitochondrial Genetics
Incomplete Dominance
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs
Genetic Variation
Genes exist in different versions called alleles, which...

