Supplementary Figure 10: Multiple sequence alignment (MSA) between GRCh38 GPRIN2 and SDA GPRIN2A/B.
From: Long-read sequence and assembly of segmental duplications
Shown is the amino acid MSA between the copies of GPRIN2 resolved by SDA and the copy of GPRIN2 in GRCh38. Of the 15 differences in the MSA, 12 are annotated in dbSNP as variants in GPRIN2 when they are in fact differences between GPRIN2A and GPRIN2B. At p.Ser104Gly, p.Arg242Gly, and p.Val375Ala, the reference has the minor allele. Supplementary Table 7 shows the allele frequencies for all variants seen in this alignment.
