Table 4.
Control-Specific Variants with Actionable Hypotheses
| Gene | Protein Variant | Frequencya(Race)b | General Score (Confidence Level)c | Structure or Function Hypotheses (Probability Scores) |
|---|---|---|---|---|
| COL6A2d | p.Arg377Cys | 1/141 (B) | 0.566 (A) | loss of MoRFe binding (p = 0.0068), loss of methylation at Arg377 (p = 0.0139) |
|
COL6A3 |
p.Tyr727Ser | 1/141 (W) | 0.769 (C) | gain of disorder (p = 0.0248) |
| p.Glu1521Lys | 1/141 (H) | 0.569 (A) | gain of MoRFe binding (p = 0.0014), gain of methylation at Glu1521 (p = 0.0144), loss of ubiquitination at Lys1518 (p = 0.0272) | |
| p.Pro2088leu | 1/141 (B) | 0.516 (A) | gain of MoRFe binding (p = 0.043) | |
| p.Ala932Ser | 1/141 (W) | 0.515 (A) | gain of disorder (p = 0.0218) | |
| COL18A1d | p.Arg1213Trp | 1/141 (W) | 0.610 (A) | loss of methylation at Arg1213 (p = 0.007) |
| FBLN2 | p.Asn886Lys | 1/141 (B) | 0.615 (C) | gain of methylation at Asn886 (p = 0.0045), gain of catalytic residue at Asn886 (p = 0.007), gain of ubiquitination at Asn886 (p = 0.0452) |
| TBX20 | p.Pro154Arg | 1/141 (B) | 0.718 (C) | gain of MoRFe binding (p = 3 × 10−04), loss of ubiquitination at Lys158 (p = 0.0395) |
| VTN | p.Asp423Asn | 1/141 (B) | 0.532 (C) | loss of sheet (p = 0.0126), loss of loop (p = 0.0374) |
a
Frequency is the number of individuals in which each variant was identified over the number of total cases resequenced for that gene.
b
Race codes are as follows: W, white; B, black; and H, Hispanic.
c
Confidence levels are as follows: A, actionable hypotheses; C, confident hypotheses; VC, very confident hypotheses; and NP, none predicted.
d
Gene is located on chromosome 21 (trisomic for this population).
e
Gain of MoRF binding represents gain of molecular recognition factor binding (interaction with other molecules is enhanced).