Table 1 De novo non-synonymous missense mutations.
From: De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity
Trio ID | Sexa | Gene | Chrb | Position | Nucleotide change (Ref > Obs)c | Amino acid change | PolyPhen-2d | SIFT | PROVEAN |
|---|---|---|---|---|---|---|---|---|---|
4 | F | SUPT6H | 17 | 27028608 | G > A | p.Asp1716Asn | probably | Damaging | Neutral |
6 | F | KRT34 | 17 | 39538037 | G > A | p.Ala162Val | benign | Damaging | Neutral |
7 | F | SLTM | 15 | 59179560 | T > C | p.Glu421Gly | probably | Damaging | Neutral |
8 | M | TBL1XR1 | 3 | 176782736 | G > C | p.Phe10Leu | possibly | Damaging | Deleterious |
9 | M | POLR3F | 20 | 18455749 | G > C | p.Ser116Thr | possibly | Tolerated | Neutral |
12 | F | FARS2 | 6 | 5431283 | T > C | p.Ile261Thr | benign | Tolerated | Neutral |
12 | F | LEMD3 | 12 | 65633735 | C > T | p.Arg650Cys | benign | Tolerated | Neutral |
13 | F | ABCD4 | 14 | 74759077 | A > G | p.Ile344Thr | possibly | Damaging | Deleterious |
15 | M | DNAJA1 | 9 | 33036612 | G > C | p.Val267Leu | possibly | Tolerated | Neutral |
