Table 2 Somatic TMEM173 mutations in primary human cancer tissues
From: TMEM173 variants and potential importance to human biology and disease
Somatic TMEM173 mutations in cancer subtypes | ||||
|---|---|---|---|---|
Tissue | Samples with mutations | Tested samples | Mutation | Mutation rate (%) |
Skin-face basal cell carcinoma | 1 | 5 | G251E | 20.00 |
Skin-head neck squamous cell carcinoma | 2 | 39 | S53F, L285I | 5.13 |
Skin-basal cell carcinoma | 2 | 49 | P92L, [R94C,Y274D]a | 4.08 |
Lung-right lower lobe adenocarcinoma | 1 | 45 | R284M | 2.22 |
NS-malignant melanoma | 2 | 101 | R232Y, G192S | 1.98 |
Esophagus-lower third squamous cell carcinoma | 1 | 54 | N131fs*13 | 1.85 |
Large intestine-cecum adenocarcinoma | 2 | 125 | V85fs*46, R253Q | 1.60 |
Soft tissue-rhabdomyosarcoma | 1 | 81 | N183S | 1.21 |
Stomach-intestinal adenocarcinoma | 1 | 85 | T356M | 1.18 |
Urinary tract-bladder transitional cell carcinoma | 1 | 114 | H50Q | 0.88 |
Large intestine-adenocarcinoma | 3 | 384 | G35E,R76G,L285P | 0.78 |
Endometrium-endometrioid carcinoma | 4 | 548 | R180Q,R197Q, Q276P,R375C | 0.73 |
Large intestine-colon adenocarcinoma | 4 | 715 | P40S,R197W,R310H,G344C | 0.70 |
Liver-neoplasm | 1 | 162 | A18D | 0.62 |
Upper aerodigestive tract-mouth squamous cell carcinoma | 1 | 221 | L136P | 0.45 |
Liver-hepatocellular carcinoma | 4 | 921 | T376K,R375C,G344D,V329F | 0.43 |
Skin-malignant melanoma | 3 | 818 | W82R, L202F, P371L | 0.37 |
Urinary tract-bladder carcinoma | 2 | 554 | H50Q,D205N | 0.36 |
Lung-squamous cell carcinoma | 2 | 655 | L133F,E282*stop | 0.31 |
Kidney-papillary renal cell carcinoma | 1 | 335 | R375H | 0.30 |
Liver-carcinoma | 1 | 725 | F378L | 0.14 |
Lung-adenocarcinoma | 1 | 772 | S4C | 0.13 |
Kidney-clear cell renal cell carcinoma | 1 | 865 | H74Y | 0.12 |
Breast-carcinoma | 1 | 1263 | D210N | 0.08 |
