Analysis of the novel p.Tyr277Cys mutation. (A) Sequencing map of the p.Tyr277Cys (TAT > TGT) mutation. Underlined bases indicate codons affected by subtle mutations. Black arrows indicate the converted base peak. (B) AS-PCR screening results for the p.Tyr277Cys mutation in normal controls. M, DNA marker; P, case 10; Fa and Ma are the father and mother of case 10, respectively; N1–6 are normal controls. Case 10 and his mother carrying the p.Tyr277Cys mutation showed two products, a 251-bp fragment corresponding to the internal control and a 182-bp fragment corresponding to p.Tyr277Cys. (C) Alignment of the SMN protein. * indicates highly conserved amino acids. The colon (:) is an indicator of conserved amino acids. The period (.) indicates amino acids that are not conserved. P.Glu134 and p.Tyr277 located in the Tudor domain and Y/G box, respectively, are highly conserved.
Yu-jin et al. BMC Medical Genetics 2012 13:86 doi:10.1186/1471-2350-13-86