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. 2020 Oct 13;106(1):e350–e364. doi: 10.1210/clinem/dgaa741

Table 3.

Distribution of nontruncatingaTMEM127 variants relative to transmembrane domains

Location of nontruncating variants Amino acids involvedb No. of nontruncating variants Nontruncating variants, % TMEM127 amino acid sequence, % P, Fisher exact test
TM1 30-53 7 15.2 10.1
TM2 96-116 3 6.5 8.8
TM3 130-150 11 23.9 8.8
TM4 169-190 7 15.2 9.2
No. of amino acids (all TM domains) 88 28 52.8 37.0
No. of amino acids (non-TM domains) 150 18 34.0 63.0
Total nontruncating variants NA 46 .0117

Abbreviations: NA, not available; TM, transmembrane domain; TMEM127, transmembrane protein 127 gene.

a Missense or in-frame insertions or deletions.

b The limits of each transmembrane domain are estimated based on consensus in silico and experimental predictions; precise limits will require crystal structure models, which are currently unavailable for TMEM127.