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. 2013 Jul 26;8(7):e69262. doi: 10.1371/journal.pone.0069262

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

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