Table 1 Comparison between different prediction algorithms and NSD1+/−-specific signature for missense mutations.
From: NSD1 mutations generate a genome-wide DNA methylation signature
Sample ID | Protein change | Inheritance | NSD1 DNAm signature | Sotos syndrome score | Clinical impression (RW and DC) | PolyPhen-2 prediction effect (score) | SIFT (score) | Mutation assessor: functional impact (score) | PMut prediction (reliability) | Mutation taster ( P-value) |
|---|---|---|---|---|---|---|---|---|---|---|
HK-5474 | p.Cys1606Tyr | De novo | Yes | 0.096 | Photos not available | Probably damaging (1) | Deleterious (0) | Medium (3.37) | Pathological (9) | Disease causing (1) |
HK-11693 | p.Pro1726Arg | De novo | Yes | 0.122 | Photos not available* | Probably damaging (1) | Deleterious (0) | High (3.61) | Pathological (7) | Disease causing (1) |
HK-5581 | p.Val1968Ala | De novo | Yes | 0.016 | Typical Sotos | Probably damaging (1) | Deleterious (0) | High (4.11) | Neutral (1) | Disease causing (1) |
HK-3326 | p.Tyr1997Cys | De novo | Yes | 0.089 | Possible Sotos | Probably damaging (1) | Deleterious (0) | High (4.75) | Pathological (8) | Disease causing (1) |
HK-435 | p.Arg2017Trp | De novo | Yes | 0.131 | Typical Sotos | Probably damaging (1) | Deleterious (0) | High (4.89) | Pathological (9) | Disease causing (1) |
DL136303 | p.Ala1927Pro | Unknown | Yes | 0.110 | Typical Sotos | Probably damaging (1) | Deleterious (0) | Medium (3.12) | Pathological (3) | Disease causing (1) |
DL208122 | p.Cys2146Ser | De novo | Yes | 0.077 | Typical Sotos | Probably damaging (1) | Deleterious (0) | High (3.89) | Pathological (1) | Disease causing (1) |
DL199861 | p.Cys2138Arg | De novo | Yes | 0.068 | Typical Sotos | Probably damaging (1) | Deleterious (0) | High (3.89) | Pathological (8) | Disease causing (1) |
DL159025 | p.Arg2005Gly | De novo | Yes | 0.148 | Typical Sotos | Probably damaging (1) | Deleterious (0) | Medium (2.35) | Pathological (6) | Disease causing (1) |
DL181344 | p.Asn1650Ser | Unknown | No | −0.141 | Unlikely Sotos | Benign (0) | Tolerated (0.09) | Low (1.08) | Pathological (0) | Disease causing (0.9) |
HK-9776 | p.Asn357Ser | Mat. inheritance | No | −0.122 | Unlikely Sotos | Benign (0.1) | Tolerated (0.73) | Neutral (−0.81) | Neutral (5) | Polymorphism (0.9) |
HK-12366 | p.Asn1149Ser | Mat. inheritance | No | −0.131 | Photos not available | Benign (0) | Tolerated (0.28) | Neutral (0.20) | Neutral (2) | Polymorphism (1) |
HK-6943 | p.Pro2225Gln | Mat. inheritance | No | −0.139 | Photos not available | Benign (0) | Tolerated (0.14) | Neutral (0.55) | Neutral (0) | Polymorphism (0.9) |
HK-14867 | p.Gln2474Arg | De novo † | No | −0.121 | Unlikely Sotos | Benign (0) | Deleterious (0.01) | Neutral (0.34) | Neutral (1) | Polymorphism (1) |
HK-11767 | p.Lys1786Arg | Mat. inheritance | No | −0.149 | Photos not available | Benign (0.2) | Deleterious (0) | Neutral (0.36) | Neutral (8) | Disease causing (0.9) |
DL73286 | p.Ser1241Thr | Mat. inheritance | No | −0.137 | Unlikely Sotos | Benign (0) | Tolerated (0.14) | Neutral (0.55) | Neutral (8) | Polymorphism (1) |
