Table 1.
Disease-associated non-synonymous TYK2 variants.
| rs | Ancestral > Derived a | Location (Chr) | EUR MAF b | Protein Change (Domain) | Number of Patients | Disease Association | Ref. |
|---|---|---|---|---|---|---|---|
| 150601734 | G > A | 19:10364707 | 0.000008 (A) c | p.R425H (FERM) | 1 | T-ALL cell line | [32] |
| - | A > G | 19:10364724 | -- | p.S431G (FERM) | 1 | -- | |
| 12720356 | A > C | 19:10359299 | 0.092 (C) | p.I684S (pseudokinase) | 11 | Protects against RA and autoimmunity; AML, T-ALL cell line |
[21,32,33] |
| 55882956 | G > A | 19:10359243 | 0.001 (A) | p.R703W (pseudokinase) | 1 | AML | [21] |
| 144995884 | G > A | 19:10356691 | 0.0 (A) | p.R832W (pseudokinase) | 1 | -- | |
| 34536443 | G > C | 19:10352442 | 0.029 (C) | p.P1104A (kinase) | 2 d | Decreased susceptibility to RA and autoimmunity Susceptibility to mycobacteria NF1-PNSTs and tumour tissues |
[20,34,35,36,37,38] |
| 55886939 | T > C | 19:10350910 | 0.004 (C) | p.E1163G (kinase) | 1 | T-ALL cell line | [32] |
a Refers to the (-) strand nucleotide. b Minor allele frequency in Europeans (1000 Genomes), according to Ensembl database (https://www.ensembl.org/). c Minor allele frequency (ExAC). d Two patients who also bear the pI684S variant. T-ALL: T-cell acute lymphoblastic leukaemia; AML: acute myeloid leukaemia; RA: rheumatoid arthritis; NF1-PNSTs: neurofibromatosis type 1-associated malignant peripheral nerve sheath tumours.