Figure 1 Dissimilar mutation distributions in 88% identical ATP1A2 and ATP1A3 proteins Dissimilar mutation distributions in 88% identical ATP1A2 and ATP1A3.

Slides:

Advertisements

Similar presentations

Cytoplasmic pathway of SERT and repeat structure of LeuTA: Cytoplasmic pathway of serotonin transporter SERT is lined by amino acid residues (spheres)

Advertisements

Figure Pedigrees of the SCA42 families identified in this study

Figure 4 K19del mutation alters CHP1 association into functional complexes, impairs NHE1 membrane targeting, and potentially compromises protein conformational.

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 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 1 Regional changes in FA values

Figure 1 Stiff-person syndrome spectrum patient serum bound to membranes of live GlyRα1-transfected HEK293 cells Stiff-person syndrome spectrum patient.

Figure 4 Correlation of age with [11C](R)-PK11195 binding in the normal-appearing white matter (NAWM) and thalami Correlation of age with [11C](R)-PK11195.

Figure 1. Type and distribution within KCNQ2 protein of variants in self-limiting epilepsy vs epileptic encephalopathy Type and distribution within KCNQ2.

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 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Structure of the Human MutSα DNA Lesion Recognition Complex

Figure Pedigree of the family

Figure 1 Linear relationship between CSF inflammation and glucose in meningitis; analysis stratified by diagnostic category (aseptic, n = 115 and microbial,

Figure 2 The p.Lys33Gln mutation eliminates a conserved salt bridge interaction of the matrix network The p.Lys33Gln mutation eliminates a conserved salt.

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

Figure Association of hippocampal subfield volumes to cognition by neopterin level, volumes, and cognition adjusted for age, education, race, sex, and.

HLA and Pregnancy: The Paradox of the Fetal Allograft

Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.

Figure WDR45 sequence changes in patients A and B

Figure 3 Temporal trends in FALS incidence

Table 4 Associations in SNP array data between the Braak stage and previously known AD risk loci (341 variants) comparing participants with Braak stage.

Figure 2 Overview of the patient's history and immunofluorescence pattern of patient CSF IgG Overview of the patient's history and immunofluorescence pattern.

Figure 2 Schematic displaying the 3 described CHT mutant proteins alongside wild type molecule (Adapted from reference 2, using Microsoft Powerpoint Software)‏

Figure 2 Linkage analysis of chromosome 19

Figure 1 White matter lesion central vein visibility in MS and absence in small vessel disease (SVD)‏ White matter lesion central vein visibility in MS.

Figure 3 Mutation carrier–derived lymphoblastoid cell lines (LCLs) show decreased aconitase 2 activity and mitochondrial respiration deficiency compared.

Figure Family tree with the HLA haplotyping of 6 members of the family

Figure 1 Family pedigree and MRI

Structure of the RGS-like Domain from PDZ-RhoGEF

Figure 2 Functionally significant genes

Table 2 Rs number, gene, OR, 95% CI, and permutation p value for the statistical significant variants resulted from allelic association analysis association.

Figure 1 Family pedigree and DNA sequencing results

Figure 4 Voltage-clamp recordings of KCNJ18 carrying the patient's SNVs expressed in Xenopus laevis oocytes under control conditions and after application.

Figure 1 [18F]florbetapir standardized uptake value ratio analytical method [18F]florbetapir standardized uptake value ratio analytical method Flowchart.

Figure 3 Voltage-clamp recording of the wild-type KCNJ18 (left) and the KCNJ18 carrying the patient's SNVs (right) expressed in Xenopus laevis oocytes.

Figure 6 Cellular composition after tissue dissociation

Figure 1 Pedigree and genetic findings

Figure 1 Histamine flare in patients and controls

Figure 2 Interactome analyses in bvFTD

Figure 3 Similar but restricted distributions of pathogenic variants in the P domain Similar but restricted distributions of pathogenic variants in the.

Figure 2 Changes in fatigue under treatment

Figure 2 Longitudinal relationship between CSF glucose and protein changes Longitudinal relationship between CSF glucose and protein changes Delta glucose.

Figure 2 Global tau-PET distribution in familial prion disease mirrors the distribution seen in Alzheimer disease Global tau-PET distribution in familial.

Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,

Figure 2 Repopulation of CD19+ cells in low and high BSA patients and calculation of the BSA Repopulation of CD19+ cells in low and high BSA patients and.

Figure 2 Pathogenic deletions upstream of LMNB1

Figure 2 Frequency of the proportion of total WMLs with central veins in PPMS, RRMS, and SVD Frequency of the proportion of total WMLs with central veins.

Figure 2 C5B3 prevented AQP4-IgG–mediated CDC without affecting AQP4-IgG binding to AQP4 C5B3 prevented AQP4-IgG–mediated CDC without affecting AQP4-IgG.

Figure 4 Distinct groups of ATP1A1 pathogenic variants

Figure 1 bvFTD PINBPA network

Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein.

Figure 2 Seizure outcomes

Yian Gu et al. Neurol Neuroimmunol Neuroinflamm 2019;6:e521

Ingo Kleiter et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e504

Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b

Gitanjali Das et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e453

Figure 2 Pedigrees of families and segregation analysis of variants c

Figure Unique second neurofibromatosis type 1 (NF1) gene mutations in multiple café-au-lait macules (CALMs) from an individual with segmental NF1 Unique.

Figure 3 Within-group comparisons (before–after)‏

Volume 16, Issue 6, Pages (December 2004)

Figure 4 Venn diagram for B-cell Sup proteins compared with proteins from exosome-enriched fractions from a human B-cell line Venn diagram for B-cell Sup.

Figure 3 A receiver operating characteristic curve of days to IVMP as a predictor of failure to regain 0.2 logMAR (20/30) vision (AUC 0.84, p < 0.001)‏

A, Schematic diagram of identified splice variants of PD-L1.

P.Thr287Pro mutation in the β2 subunit and γ-aminobutyric acid-A (GABAA) receptor is shown. p.Thr287Pro mutation in the β2 subunit and γ-aminobutyric acid-A.

Figure 4 Western blotting

Presentation transcript:

Figure 1 Dissimilar mutation distributions in 88% identical ATP1A2 and ATP1A3 proteins Dissimilar mutation distributions in 88% identical ATP1A2 and ATP1A3 proteins (A) Ribbon diagrams of Na,K-ATPase in the K+-bound conformation. Bound K+ is shown as pink spheres. Extracellular portions include the β-subunit (green; transmembrane portion removed for clarity) and extracellular loops of the α-subunit (magenta). The 10 transmembrane α-helices are white. The cytoplasmic domains are the stalk (S, lavender), phosphorylation domain (P, red), nucleotide binding domain (N, gold), and actuator domain (A, yellow). Spacefill residues are the backbones of each amino acid mutated in ATP1A2 or ATP1A3. Color shading is varied to help distinguish different amino acids. For ATP1A2, 76 different DNA variants occur in 66 amino acids, i.e., 10 amino acids have 2 alternative codon changes. Three of the mutations are single amino acid deletions. For ATP1A3, 130 different DNA variants occur in 86 amino acids; 5 are single amino acid deletions, and there are 25 amino acids with 2–6 alternative codon changes. All 18 overlapping residue pairs (including 3 where one was found in ClinVar) were identical before the mutation. In 6 pairs, the amino acid change was different; in 8, it was the same; and in 4, both identical and different substitutions were found (i.e., alternative codon changes). (B) Linear diagram of the domain substructure. Both the A domain (yellow) and the P domain (red) are composed of 2 parts that are separated in the linear structure. As in (A), the extracellular loops are magenta. The stalk domain comprises 5 separate parts: the cytoplasmic extensions of the M4 and M5 transmembrane spans S1 and S2; the short intracellular loops L6-7 and L8-9; and the C-terminus (lavender). For ATP1A2 and ATP1A3, domain lengths are proportional to the number of distinct variants found (including alternative codon changes). Although variants are found in most domains, ATP1A2 has an excess in the P domain, and ATP1A3 has an excess in the membrane domain. Kathleen J. Sweadner et al. Neurol Genet 2019;5:e303 Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.