Table 1.
Some clinically important mutations, associated genes, and their corresponding cellular pathologies. Among both complexes, protection of telomeres 1 (POT1) and conserved telomere maintenance component 1 (CTC1) appear as most recurrent mutated genes.
| Gene | Mutation | Type of Disease | Reference |
|---|---|---|---|
| RAP1 | p.M5I | Familial Melanoma | [43,44] |
| p.D10H | |||
| p.Q191R | |||
| p.R364X | |||
| p.A104P | Chronic lymphocytic leukemia | ||
| p.R133Q | |||
| TIN2 | p.R282H | Dyskeratosis congenita | [55,89,90,91,92,93] |
| p.R282S | |||
| p.K280E | |||
| p.R282C | |||
| p.L280X | |||
| p.R282H | |||
| p.R282S | |||
| p.R282L | |||
| p.Q269X | |||
| p.Q271X | |||
| p.P283S | |||
| p.P283A | |||
| p.P283H | |||
| p.T284A | |||
| p.T284H | |||
| p.L287P | |||
| p.P289S | |||
| p.F290LfsX2 | |||
| p.R291G | |||
| p.Q298R fsX19 | |||
| p.K280RfsX36 | |||
| p.A43T | N/A | ||
| p.G237D | |||
| p.P241S | |||
| p.P236S | |||
| p.E281K | |||
| p.S245Y | Pulmonary fibrosis | [56] | |
| TPP1 | p.G223V | Acute lymphoblastic leukemia | [94] |
| p.K170X | Dyskeratosis congenita | [95] | |
| p.P491T | |||
| p.R159A;E160A | N/A | [64] | |
| p.D163A;T164A | |||
| p.D166R;E168R | |||
| p.S111A | |||
| POT1 | p.Y89C | Familial melanoma | [96] |
| p.Q94E | |||
| p.R273L | |||
| p.R137H | Cutaneous malignant melanoma | [97] | |
| p.D224N | |||
| p.S270N | |||
| p.A532P | |||
| p.Q623H | |||
| p.G95C | Familial glioma | [98] | |
| p.E450X | |||
| p.D617E | |||
| POT1 | p.R117C | Cardiac angiosarcoma | [99] |
| p.S322L | Coat plus | [100] | |
| p.M1L | Chronic lymphocytic leukemia | [44,101,102] | |
| p.Y36N | |||
| p.Y66X | |||
| p.K90Q | |||
| p.Q94R | |||
| p.Y223C | |||
| p.S250X | |||
| p.H266L | |||
| p.G272V | |||
| p.C591W | |||
| p.Y36C | |||
| p.Q376R | |||
| p.Q358S | |||
| CTC1 | p.A227V | Coat plus | [94,103,104,105,106] |
| p.R975G | |||
| p.R840W | |||
| p.R987W | |||
| p.G503R | |||
| p.L1142H | |||
| p.V665G | |||
| p.V259M | |||
| p.V871M | |||
| p.R1196X | |||
| p.R287X | |||
| p.R840W | |||
| p.L1142H | |||
| p.V665G | |||
| p.V259M | |||
| p.V871M | |||
| p.H484P | |||
| p.G278V | |||
| p.Y281H | |||
| p.K242L | Dyskeratosis congenita | [107,108] | |
| p.C985X | |||
| p.L464V | |||
| p.L247P | |||
| p.G278V | |||
| p.C424G | |||
| p.I1005V | N/A | [106] | |
| p.H484H | |||
| p.I820V | |||
| STN1 | p.R135T | Coat plus | [84] |
| p.D157Y | |||
| p.W89A | N/A | [82,109] | |
| p.R139L | |||
| p.Y141A | |||
| p.S248C | |||
| p.T151A | |||
| p.D78A | |||
| p.I164A | |||
| TEN1 | p.R27Q | N/A | [82] |
| p.Y115A | |||
| p.R119Q |
N/A = Not available.