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. 2013 Jan 30;8(1):e54131. doi: 10.1371/journal.pone.0054131

Table 1. Presentation of TRPM4 variants.

mRNA Protein Grantham [0-215] Splicing Interspecies conservation InterTRPM conservation Protein domain Controls European American African American Total 1 Fisher exact test Total 2 Fisher exact test
c. 430C>T p.R144W 101 mammals 0/7 N-term. Intracyto 0/2040 0/3490 0/1854 0/5530 0.0429* 0/7384 0.0325*
c. 1294G>A p.A432T 58 vertebrates 7/7 N-term. Intracyto 0/300 0/3501 0/1864 0/3801 0.0612 0/5665 0.0419*
c. 1663G>A p.G555R 125 mammals except rodent 0/7 N-term. Intracyto 0/2000 0/5366 0/3501 0/7366 0.0323* 0/10867 0.0245*
c. 1744G>A p.G582S 56 crypticdonorsite mammals 4/7 N-term. Intracyto 0/2000 0/5356 0/3495 0/7356 0.0326* 0/10851 0.0223*
c.2317T>A p.F773I 21 primates 0/7 1st extra-cellular loop 0/2000 0/5219 0/3405 0/7219 0.0332* 0/10624 0.0228*
c.2336C>G p.P779R 103 invertebrates 6/7 Transmembrane S2 0/2000 0/5219 0/3405 0/7219 0.0332* 0/10624 0.0228*
c. 2618C>T p.T873I 89 several mammals 0/7 Transmembrane S3 0/2000 0/6974 0/3626 0/8974 0.0269* 0/12600 0.0193*
c.2209G>A p.G737R 125 several mammals 0/7 1st extra-cellular loop 1/2000 7/7007 6/3732 8/9007 0.0279* 14/12739 0.0365*
c.2531G>A p.G844D 94 mammals 0/7 1st intra-cellular loop 4/2000 12/6780 0/3626 16/8780 0.0143* 16/12406 0.0056*
c.2561A>G p.Q854R 43 primates + fish 3/7 1st intra-cellular loop 2/2000 8/6966 1/3713 10/8966 0.0045* 11/12679 0.0022*
c.2740A>T p.K914X mammals + fish 4/7 End of S4 2/1914 12/7008 3/3735 14/8922 0.0100* 17/12657 0.0063*
c.3224T>C p.L1075P 98 invertebrates 4/7 TRP domain 0/2052 1/7019 0/3738 1/9071 0.0525 1/12809 0.0376*
c.1458_1493del36 p.K487_L498del primates 0/7 N-term. Intracyto 4/576 0.8322
c.3611C>T p.P1204L 98 vertebrates 0/7 C-term. Intracyto 6/1100 25/6957 0/3708 31/8057 0.6473 31/11765 0.4875

(*: Fisher exact test positive) TRPM4 RefSeq NM_017636.3, OMIM 606936.