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.