(A) Segregation of mutations in TMEM231 in JBTS families.

Slides:

Advertisements

Similar presentations

I Ia II Ib I IaIb IIIII IV V VI Figure S1. Comparison of amino acid sequence of O. sativa (Os) SUV3 (1-579) with SUV3 from A. thaliana (At) (1-571), H.

Advertisements

3DM: Protein Super-family Platforms 3DM Protein super-family data integration Tom van den Bergh Bio-Prodict.

Alignment table: group 4

Positioning of the TGF‐β3 and BMP receptor complexes on a membrane surface. Positioning of the TGF‐β3 and BMP receptor complexes on a membrane surface.

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)

Fig. 1. NS1 protein alignment and linear epitope mapping of the 10 antibodies used to run the DENV serotype–specific NS1 rapid tests, pan-DENV NS1 test,

Representation of the 15 selected premature termination codons (PTCs) and their corresponding recoded major protein. Representation of the 15 selected.

Sequence analyses and evolutionary conservation of the CLDN10 gene and the identified CLDN10 variants. Sequence analyses and evolutionary conservation.

Pedigrees of the families of patients 1 and 2 show that the clinical phenotype co-segregates with compound heterozygous CLDN10 variants. Pedigrees of the.

Multiple sequence alignment and analysis of SOFL proteins.

Family pedigrees, clinical photographs/3D-CT scans and sequencing traces of families with mutations identified in FBN1 (A), EFNB1 (B) and STAT3 (C). Family.

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

Fig. 3. Structure of ALS-associated RNA binding proteins.

Relationship between Genotype and Phenotype

Figure 1. Generation of the S250F Aadc mutant mice

The FKBP8‐ATG8 interaction is dependent on an intact LIR docking site (LDS)‏ The FKBP8‐ATG8 interaction is dependent on an intact LIR docking site (LDS)

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Progress in Molecular Genetics of Heritable Skin Diseases: The Paradigms of Epidermolysis Bullosa and Pseudoxanthoma Elasticum Jouni Uitto, Leena Pulkkinen,

Putative pathogenic variants in KLB identified in congenital hypogonadotropic hypogonadism Putative pathogenic variants in KLB identified in congenital.

Alignment of H-NS, H-NS2, and StpA amino acid sequences.

(A) Six missense mutations in six essential genes that are not in annotated functional domains. (A) Six missense mutations in six essential genes that.

Peter Ianakiev, Michael W

Percentage of proteins identified in envelope membrane extracts according to the purification method and the number of transmembrane domains. Percentage.

Figure 3 Molecular genetics

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica Davis, Hanna Mandel,

Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease Richard Alan Lewis, Noah F.

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel.

Sequence alignment of PHCCEx domains with secondary structure elements of the Tiam2 PHCCEx domain at the top. Sequence alignment of PHCCEx domains with.

Schematic depiction of the effect of different types of Duchenne muscular dystrophy (DMD)-causing mutations on the dystrophin transcript. Schematic depiction.

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

(A) Missense mutations identified in different domains of ROR2 in recessive Robinow syndrome. (A) Missense mutations identified in different domains of.

Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene Véronique Satre,

Ratings of core domains stratified by stakeholder group in the second Delphi round. Ratings of core domains stratified by stakeholder group in the second.

Identification of the GCS1 ortholog in Gonium pectorale.

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel.

Figure 1 Pedigree and genetic findings

SNARE motif sequence alignment of GOSR2 and its yeast ortholog, Bos1.

Trends in incidence rates of reported work related injuries and illnesses in jobs with and without exposure, by exposure category. Trends in incidence.

Suggested algorithm for genetic testing in Charcot–Marie–Tooth disease (CMT) and related disorders in the age of disease-specific gene panels. *Motor nerve.

Annoted amino acid sequence of Aedes aegypti gliotactin (Gli).

Time trend projections of age-standardised death rate (ASDR) per 100 000 individuals. Time trend projections of age-standardised death rate (ASDR) per.

Mosquito GluCl alignment and anti-AgGluCl IgG specificity.

General structure of RIFINs and STEVORs

Alignment of the deduced amino acid sequences of the myosin light chain 2 (MLC2) proteins. Alignment of the deduced amino acid sequences of the myosin.

Demographic and situational information for all 361 exertional heat illness cases (left) and 137 hospitalised cases (right), displayed by (A) occupational.

Reconstituted Xenopus Lnp forms stacked membrane discs.

Multiple sequence alignment of Twisted gastrulation (TSG) proteins.

Dror Sharon, Michael A. Sandberg, Vivian W

Comparison of the sequences of Fzo/Mfn and structure of mammalian Mfn2

Ub-binding ability of ERα.

Comparison of the predicted amino acid sequences of murine Rin (GenBank accession number U71202), human Rin (U71204), murine Rit (U71205), human Rit (U71203),

Structural insights based on chimeric Alp4-GCP2 analysis.

Figure 2 Compound heterozygous mutations in ADAM22

Phylogenetic analysis and domain structure of CALM proteins.

Effects of a human FABP7 point mutation on FABP7 protein structure

Left ventricular ejection fraction in patients without CAD (no CAD), with established CAD without MI (CAD, no MI), and patients with CAD and previous MI.

Spatial deposition of radio frequency (RF) energy in the Gridmaster cells—the light cubes identify the most exposed region of the brain, that is, that.

Patient carrying two probably damaging missense variants in HCFC1 and ATRX: one causative mutation and one modifier variant? (A) Family tree of patient.

Relative risk of suffering clinically measurable levels of general anxiety and depression following a false-positive mammogram compared to a normal mammogram,

Comparison of mean Gensini scores (GS) and atherosclerotic scores (AS) according to the C282Y mutation in patients with single, double, and triple vessel.

Predicted pathogenic BRCA1 amino acid substitutions are confined to the evolutionarily conserved N- and C-terminal domains. Predicted pathogenic BRCA1.

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V Anthony Antonellis, Rachel E. Ellsworth,

Relationship between the mean of actually measured and predicted postoperative oxygen uptake (ppo V̇O2peak as % of predicted), and the difference between.

(Left panel) Incidence of non-traumatic cardiac arrest (NTCA) per 100 000 population by age group and sex (n=8557): age or sex data were not recorded in.

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.

Ensuring adequate circulation to sustain life (Algorithm 3)

(A) Computed tomography showing left frontal intracerebral haematoma and skull vault fracture with (B) corresponding plain skull radiograph showing a depressed.

Alignment of the Amino Acid Sequences of NCS and Other PR10/Bet v1 Proteins from Various Plant Species.Deduced amino acid sequences were aligned using.

Presentation transcript:

(A) Segregation of mutations in TMEM231 in JBTS families. (A) Segregation of mutations in TMEM231 in JBTS families. (B) Brain MRI from individual II-1 from family 387 showing the ‘molar tooth sign’. (C) Left panel, scheme showing the presence of the mutations with respect to the different TMEM231 Ensemble-annotated transcripts predicted to produce proteins; right panel, the corresponding TMEM231 proteins are depicted in the right panel. TM, denotes the presence of a transmembrane domain, as predicted by SMART algorithm. (D) Amino acid conservation of the residues affected by the p.Tyr4* and p.Asp209Asn mutations in TMEM231. Amino acid alignments were generated using homologene (NCBI). Myriam Srour et al. J Med Genet 2012;49:636-641 ©2012 by BMJ Publishing Group Ltd