Table 1.

List of missense UNC13D variants analyzed in the current study

VariantPredicted effectsReference
V1 c.175G>A p.Ala59Thr 22,27 
V2 c.767G>A p.Arg256Gln 13 (found in P6) 
V3 c.1193C>T p.Ser398Leu 22 
V4 c.1208T>C p.Leu403Pro 27 
V5 c.1240C>T p.Arg414Cys 13 (found in P6) 
V6 c.1820G>C p.Arg607Pro 28 
V7 c.1940T>C p.Leu647Pro 22 
V8 c.2039G>C p.Arg680Pro 22 
V9 c.2180G>A p.Arg727Gln 22 
V10 c.2570T>G p.Phe857Cys 26,27 
V11 c.2599A>G p.Phe857Cys Benign variant 
V12 c.2642T>C p.Leu881Pro 23 
V13 c.2759A>G p.Tyr920Cys 13 (found in P2) 
V14 c.3049G>A p.Glu1017Lys 22 
V15 c.3173T>C p.Leu1058Pro 22 
VariantPredicted effectsReference
V1 c.175G>A p.Ala59Thr 22,27 
V2 c.767G>A p.Arg256Gln 13 (found in P6) 
V3 c.1193C>T p.Ser398Leu 22 
V4 c.1208T>C p.Leu403Pro 27 
V5 c.1240C>T p.Arg414Cys 13 (found in P6) 
V6 c.1820G>C p.Arg607Pro 28 
V7 c.1940T>C p.Leu647Pro 22 
V8 c.2039G>C p.Arg680Pro 22 
V9 c.2180G>A p.Arg727Gln 22 
V10 c.2570T>G p.Phe857Cys 26,27 
V11 c.2599A>G p.Phe857Cys Benign variant 
V12 c.2642T>C p.Leu881Pro 23 
V13 c.2759A>G p.Tyr920Cys 13 (found in P2) 
V14 c.3049G>A p.Glu1017Lys 22 
V15 c.3173T>C p.Leu1058Pro 22 

The 11 variants identified in the literature, together with 3 missense variants found in our patients plus a benign variant, were subjected to comprehensive functional analyses.

View Large