Table 1. Novel Rare Variants detected in NTDs in the CDS of SCRIB Gene in Spina Bifida.
Nucleotide changea | Amino Acid change | Amino Acid locate domain | Amino Acid conservation | PolyPhen prediction | SIFT prediction |
---|---|---|---|---|---|
c.1096 G>A | p.A366T | LRR 14 | No | probably damaging | DAMAGING |
c.1655 C>T | p.T552M | N/A | No | possibly damaging | Tolerant |
c.3128 C>T | p.P1043L | 3rd PDZ | Yes | probably damaging | DAMAGING |
c.3943 G>A | p.A1315T | N/A | No | benign | Tolerant |
c.3995 C>T | p.P1332L | N/A | Yes | possibly damaging | Tolerant |
c.4559 T>G | P.L1520R | N/A | Yes | possibly damaging | DAMAGING |
a Nucleotide numbering reflects cDNA numbering with + 1 corresponding to the A of the ATG translation initiation codon 1 in the reference sequence. NCBI Reference sequence number for SCRIB: NM_015356.
N/A: Not Available