Presentation is loading. Please wait.

Presentation is loading. Please wait.

Figure 2 DNA sequence analysis of VPS37A

Published byJoost Vink Modified over 5 years ago

Similar presentations

Presentation on theme: "Figure 2 DNA sequence analysis of VPS37A"— Presentation transcript:

1 Figure 2 DNA sequence analysis of VPS37A
DNA sequence analysis of VPS37A (A) Electropherogram of the patient reveals a nonsynonymous homozygous C-to-A substitution (red arrow) at position 700 bp of VPS37A (c.700C>A, p.Leu234Ile). (B) Electropherogram reveals a heterozygous c.700C>A mutation (blue arrow) in patients without idiopathic transverse myelitis. (C) Representative electropherogram of VPS37A from normal controls (black arrow). (D) p.Leu234 residue is highly conserved and found in evolutionary distant orthologs down to zebrafish. The sequences were derived from GenBank records with the following accession numbers: Homo sapiens (NP_ ), Callithrix jacchus (marmoset; XP_ ), Rattus norvegicus (Rat; NP_ ), Mus musculus (house mouse; NP_ ), Gallus gallus (chicken; XP_ ), Xenopus laevis (African clawed frog; XP_ ), and Danio rerio (zebrafish; NP_ ). Maureen A. Mealy et al. Neurol Genet 2018;4:e213 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Download ppt "Figure 2 DNA sequence analysis of VPS37A"

Similar presentations

Figure Pedigrees of the SCA42 families identified in this study

Figure Pedigrees of the SCA42 families identified in this study
Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.
Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)
Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.
Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.
Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 3 Pedigree of familial idiopathic transverse myelitis
Figure 1 Box plot of the venous diameter in lesions

Figure 1 Box plot of the venous diameter in lesions
Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Needle biopsy of the left vastus lateralis
Figure 2 Spinal cord lesions

Figure 2 Spinal cord lesions
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A  Krista Mahoney, Susan J. Moore, David Buckley, Muhammed Alam, Patrick Parfrey,

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A  Krista Mahoney, Susan J. Moore, David Buckley, Muhammed Alam, Patrick Parfrey,
Figure 3 Immunohistochemical analyses of positive and negative Epstein-Barr virus (EBV) control tissues using immunostaining Immunohistochemical analyses.

Figure 3 Immunohistochemical analyses of positive and negative Epstein-Barr virus (EBV) control tissues using immunostaining Immunohistochemical analyses.
Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.
Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.

Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.
Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.
Figure Pedigree of the family

Figure Pedigree of the family
Figure 4 Detection of EBER+ cells in MS and control brains by in situ hybridization Detection of EBER+ cells in MS and control brains by in situ hybridization.

Figure 4 Detection of EBER+ cells in MS and control brains by in situ hybridization Detection of EBER+ cells in MS and control brains by in situ hybridization.
Figure 3 Transcripts of the splicing mutation (c

Figure 3 Transcripts of the splicing mutation (c
Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.

Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.
Figure 3 Molecular genetics

Figure 3 Molecular genetics
Figure 2 Correlation between total IgG levels and anti-AQP4 IgG titer

Figure 2 Correlation between total IgG levels and anti-AQP4 IgG titer

Similar presentations

Ads by Google