From: Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients
Family number | Gene/Exon | cDNA changea | Protein changeb | In silico analysis | Occurrence in | Novel/ Reported | Functional significance | |||
---|---|---|---|---|---|---|---|---|---|---|
SIFT (score) | PolyPhen-2 (score) | Mutation Taster (probability value) | Patients | Controls | ||||||
1 | FZD4/2 | c.341T>G | p.Ile114Ser | Damaging (0.00) | Probably damaging (0.996) | Disease causing (0.9999) | 1/110 | 0/115 | Novel | Pathogenic |
2 | FZD4/2 | c.1395_ 1396insT | p.Arg466Ser fs*6 | - | - | - | 1/110 | 0/115 | Novel | Pathogenic |
3 | FZD4/2 | c.1613A>C | p.*538Serext*2 | - | - | - | 1/110 | 0/115 | Novel | Pathogenic |
c.1286-1290 delAGTTA | p.Lys429Arg fs*28 | - | - | - | 1/110 | 0/115 | Reported [52] | Pathogenic | ||
4 | FZD4/2 | c.1282_1285 delGACA | p.Asp428Ser fs*2 | - | - | - | 2/110 | 0/115 | Pathogenic | |
5 | ||||||||||
6 | FZD4/2 | c.470T>C | p.Met157Thr | Damaging (0.039) | Benign (0.256) | Disease causing (0.9999) | 1/110 | 0/115 | Reported [2] | Pathogenic |
ZNF408/5 | c.694A>G | p.Met232Val | Tolerated (0.508) | Benign (0.000) | Polymorphism (0.9999) | 1/110 | 0/115 | Novel | Unknown significance | |
7 | FZD4/2 | c.313A>G | p.Met105Val | Tolerated (0.858) | Possibly damaging (0.793) | Disease causing (0.9999) | 3/110 | 0/115 | Pathogenic | |
8 | ||||||||||
9 | ||||||||||
10 | TSPAN12/3 | c.125T>C | p.Val42Ala | Damaging (0.023) | Benign (0.127) | Disease causing (0.9998) | 1/110 | 0/115 | Novel | Pathogenic |
11 | TSPAN12/7 | c.479G>A | p.Cys160Tyr | Damaging (0.000) | Probably damaging (1.000) | Disease causing (0.9999) | 4/110 | 0/115 | Novel | Pathogenic |
12 | ||||||||||
13 | ||||||||||
14 | ||||||||||
15 | TSPAN12/5 | c.334G>A | p.Val112Ile | Tolerated (0.338) | Possibly damaging (0.533) | Disease causing (0.9999) | 1/110 | 0/115 | Reported [47] | Pathogenic |
16 | ZNF408/2 | c.130C>T | p.Pro44Ser | Tolerated (0.054) | Benign (0.062) | Polymorphism (0.9999) | 1/110 | 0/115 | Novel | Unknown significance |
17 | ZNF408/5 | c.2145G>T | p.Glu715Asp | Damaging (0.003) | Probably damaging (0.966) | Disease causing (0.888) | 1/110 | 0/115 | Novel | Pathogenic |