Membrane topology prediction of the SLC45A2 protein using TMHMM (v. 2

Slides:



Advertisements
Similar presentations
Mutations Section 12–4 This section describes and compares gene mutations and chromosomal mutations.
Advertisements

Mutations in DNA changes in the DNA sequence that can be inherited can have negative effects (a faulty gene for a trans- membrane protein leads to cystic.
Jeopardy 20 Squares Start Rules:
Human Genetic Mutations
Figure 2. Diagrams of 2 albino dog families. (a) The Lhasa Apso family
Gene Mutations.
Studies of protein trap expression We compared the apparent intensity of GFP-protein staining in the GSCs with the RNA level of the corresponding gene.
Mutations.
Types of Mutations.
Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)
Kathie Alexina Wong, Mark Wass, Kay Thomas  European Urology 
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.
Types of point mutations
Leukemogenic Activity of Cohesin Rings True
Entry Task Apply: Suppose a template strand of DNA had the following sequence: DNA: T A C G G A T A A C T A C C G G G T A T T C A A What would.
Entry Task Apply: Suppose a template strand of DNA had the following wild-type gene sequence: DNA: T A C G G A T A A C T A C C G G G T A T T C.
Multiple sequence alignment and analysis of SOFL proteins.
Figure 1. Type and distribution within KCNQ2 protein of variants in self-limiting epilepsy vs epileptic encephalopathy Type and distribution within KCNQ2.
Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A
Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease)  Barbara Burwinkel, Henk D. Bakker, Eliezer Herschkovitz,
Lesson 1: Evolution.
The 130-bp key region of the promoter of TsVP1 is a direct binding target of TsNAC1. The 130-bp key region of the promoter of TsVP1 is a direct binding.
Mutations.
GENETIC MUTATIONS MUTATIONS.
Volume 54, Issue 3, Pages (September 1998)
Volume 54, Issue 3, Pages (September 1998)
Model of human CLC-Kb transporter topology and positions of amino acid exchanges due to mutations in the CLCNKB gene as identified in Bartter syndrome.
Gene structures, positions of mutations, and protein domains of PRP18 paralogs in Arabidopsis. Gene structures, positions of mutations, and protein domains.
Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease  Richard Alan Lewis, Noah F.
HLA and Pregnancy: The Paradox of the Fetal Allograft
The Rh blood group system: a review
Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.
Volume 79, Issue 1, Pages (January 2011)
James A. Poulter, Manir Ali, David F
Splitting p63 The American Journal of Human Genetics
Mutation: Some Definitions
Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria  Barbara Kloeckener-Gruissem,
Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome
A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.
Effect of dinB gene deletion on the frequency of spontaneously arisen TetR mutants in different genetic backgrounds. Effect of dinB gene deletion on the.
Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment 
Mutation Notes.
Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy- Terminal Domain  Karin Gaudenz, Erich Roessler, Nandita Quaderi, Brunella.
I. Mutations A change in the genetic code
Gene ontology (GO) term enrichment for significantly downregulated genes. Gene ontology (GO) term enrichment for significantly downregulated genes. Visualization.
The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein 
Volume 57, Issue 3, Pages (March 2000)
Unit 1 Human Cells Higher Human Biology for CfE Miss Aitken
Aminoacidurias: Clinical and molecular aspects
Figure 1 Pedigree and genetic findings
Coalescent analysis of nucleotide differentiation between high and low latitude samples. Coalescent analysis of nucleotide differentiation between high.
Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,
Rachis extension in drp-1(or1393ts) mutants and GFP::DRP-1 localization. Rachis extension in drp-1(or1393ts) mutants and GFP::DRP-1 localization. (A) The.
(A) yellow cDNA comparison among wild-type and ch mutants
Eff localizes in many bands and interbands of wild-type polytene chromosomes. Eff localizes in many bands and interbands of wild-type polytene chromosomes.
Spatial distribution of individual genotypes in a subpart (of size 500 grid units × 700 grid units) of the total grid after the last cycle in one replicate.
Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein.
Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1  Alison.
Dror Sharon, Michael A. Sandberg, Vivian W
A: Spectrum of 136 somatic HNF1A mutations observed in 75 HCA samples (top) and in 364 MODY3 individuals (bottom) (data from Ellard and Colclough [25]).
Genetic Features of Chinese Patients with Gitelman Syndrome:
The C2H2 zinc-finger factor ztf-16 is required for ver-1 expression.
Nucleotide and predicted amino acid sequence of the adult mouse brain cdr2 cDNA. Nucleotide and predicted amino acid sequence of the adult mouse brain.
Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4  J.M. Newton, Orit Cohen-Barak,
KIT mutations in GISTs. A, amino acid sequence of KIT exon 11 mutations in clinical GIST biopsies. –, amino acids that are deleted; italicized amino acids,
Neurodegenerative Tauopathies
Predicted pathogenic BRCA1 amino acid substitutions are confined to the evolutionarily conserved N- and C-terminal domains. Predicted pathogenic BRCA1.
Comparison of the van gene clusters.
Presentation transcript:

Membrane topology prediction of the SLC45A2 protein using TMHMM (v. 2 Membrane topology prediction of the SLC45A2 protein using TMHMM (v. 2.0; http://www.cbs.dtu.dk/services/TMHMM-2.0/). The locations of the frameshift mutation (S36fs) associated with imperfect albino (S*AL) and the two missense mutations Y277C and L347M associated with Silver (S*S) in chicken are indicated by solid arrowheads. The A72D mutation associated with cinnamon (AL*C) in Japanese quail is marked with a shaded arrowhead. The missing amino acids in the SLC45A2 protein encoded by sex-linked imperfect albinism (AL*A) in Japanese quail are shaded. Abn.Spl., aberrant splicing. Ulrika Gunnarsson et al. Genetics 2007;175:867-877 Copyright © 2007 by the Genetics Society of America