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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects

Fig. 1

Comparison of the variants found in our research and previous literature reports. Numbers at the end of the variant name represent the number of patients. Variants detected in cases only are indicated by blue dots. Variants detected in next generation of sequencing (NGS) are indicated by red dots. 1A, 1B, 2A, 2B: The Coil 1A, Coil 1B, Coil 2A, Coil 2B regions, respectively; Rod: intermediate filament rod; KSP repeats, repeats of lysine-serine-proline; Epitope: recognized by an IF-specific monoclonal antibody; SubA, SubB: subdomain A, subdomain B (acidic). The amino acid position and functional domains are depicted according to the UniProt database (http://www.uniprot.org/uniprot/). The plot was created with DOG v. 2.0 software (http://dog.biocuckoo.org/). Abbreviations: ALS, amyotrophic lateral sclerosis; NEFH, neurofilament heavy polypeptide. NEFM, neurofilament medium polypeptide. NEFL neurofilament light polypeptide

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