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. 2005 Mar 22;33(5):1710–1721. doi: 10.1093/nar/gki311

Table 2.

Distribution of the various amino acid changes among the TM, extracellular and intracellular regions for the disease-causing, neutral variations and SNPs from dbSNP

Domain Disease Neutral dbSNP
Transmembrane 164 (93) P = 1.9 × 10−11 90 (86) P = 0.35 112 (158) P = 2.2 × 10−5
Extracellular 80 (111) P = 0.001 96 (82) P = 0.06 200 (159) P = 0.0009
Intracellular 40 (80) P = 5.5 × 10−7 61 (79) P = 0.019 152 (126) P = 0.056

The numbers in the parentheses is the expected number based on a Poisson distribution and the numbers left of the parentheses indicate the observed number of variations in the corresponding domain.