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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome

Fig. 2

Sanger sequence and amino acid alignment of c.712_714delTTC of the LMX1B gene and prediction of the protein conformational changes by SWISS-MODEL. a Wild type allele DNA sequence of exon 4 of LMX1B (GenBank Accession: NM_002316.3) derived from subclone results of patient V-5. b The equivalent region from subclone results of patient V-5 showing the novel deletion mutation c.712_714delTTC. c Amino acid alignments show that c.712_714delTTC mutation occurs at a highly conserved position in LMX1B, as shown by comparing the corresponding sequence of 10 species. d Prediction of 3D structure changes in mutant LMX1B protein. The helical structure of Phe234-Lys235-Ala236-Ser237 was abolished and transformed into strand

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