File:PMC3891447 awt315f2p.png

English: Mutations in SLC52A2 in Brown-Vialetto-Van Laere syndrome. (A) Predicted transmembrane domains in RFVT2, gene structure and location of mutations identified in SLC52A2 in this patient cohort. Reference sequence NM_024531.4. The Washington Exome Variant Server (http://evs.gs.washington.edu/EVS/), single nucleotide polymorphism database (dbSNP) (http://www.ncbi.nlm.nih.gov/snp) and 1000 Genomes Project (http://www.1000genomes.org/) databases were screened for the identified mutations. (B) Structural conservation of relevant amino acid residues in RFVT2 across species and in RFVT1 and RFVT3. Dark blue, medium blue and light blue colours correspond to amino acids conserved in ≥6, ≥5 or ≥3 of 7 sequences, respectively. Conservation among species of the affected amino acid residues was determined using Ensembl to retrieve the sequences and Clustal Omega software (Thompson et al., 1994) for multiple sequence alignment. The Ensembl protein IDs for the RFVT2 orthologous sequences reported are ENSGGOP00000028056, ENSSSCP00000028741, ENSMUSP00000023220 and ENSDARP00000045674.