Table 1.
Mutation in cDNA | Amino acid change | Predicted deleterious | |
---|---|---|---|
PolyPhen-2a | SIFTb | ||
c.644G > A | R215H | Probably damaging | Affect protein function |
c.1528G > A | V510M | Benign | Tolerated |
c.1862G > A | R621H | Possibly damaging | Affect protein function |
c.1909G > A | A637T | Benign | Tolerated |
c.2399C > T | P800L | Benign | Tolerated |
c.2455C > T | A819S | Benign | Tolerated |
aPolyPhen-2: http://genetics.bwh.harvard.edu/pph2/
bSIFT: http://sift.jcvi.org/