<?xml version='1.0' encoding="ISO-8859-1" ?> <pml xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:noNamespaceSchemaLocation="pml.xsd" > <!-- Note: date in ISO 8601 format --> <contributor name="Heikki Lehväslaiho" date="2005-05-06"> <annotation name="meta" value="sample HGVbase entry v3" /> <annotation name="comment" value="latest schema fixes db_xref placement problem" /> </contributor> <!-- Full submitter information is kept in a separate XML file in HGVbase --> <source uid="SUB000000001" id="SUB000000001" name="Anthony J Brookes" laboratory="Center for Genomics Research" institution="Karolinska Institute" address="Theorelsväg 3, 171 77 Stockholm, Sweden" tel="+46 8 728 6630" fax="+46 8 331547" email="Anthony.Brookes@cgb.ki.se" /> <distributor uid="HGVbase" name="HGVbase" db="HGVbase" /> <!-- location of the gene structure is not included in the HGVbase entry --> <genomic_gene_structure id="GID000004227" gene_symbol="IRS4" > <annotation name="name" value="Insulin receptor substrate 4" /> <annotation name="otherMotifsChanged" value="Unknown" /> <annotation name="protSeqChanged" value="Yes" /> <annotation name="region" value="I-Ex:CDS+" /> <annotation name="spliceSiteChanged" value="Unknown" /> <annotation name="type" value="Functional Gene" /> </genomic_gene_structure> <!-- Variation centered section --> <genomic_polymorphism id="GEN000002654" flank_up="AGCGAGCCTGTGGCCCACTCCAGGC" flank_down="GGAAGACTGCACCTGCCCAGAGGGC" > <source uid="SUB000000001" /> <annotation name="curationStatus" value="MRA" /> <annotation name="status" value="Proven" /> <annotation name="type" value="Generic" /> <genomic_allele id="GEN000002654.ALE000000001" sequence="GA" /> <genomic_allele id="GEN000002654.ALE000000002" sequence="AT" /> <reference_genomic_location id="10" start="120395" end="120396" strand="0"> <reference_genomic_landmark id="AL035425.13" molecule="DNA" > <db_xref db="EMBL" uid="AL035425.13" field="version" /> </reference_genomic_landmark> </reference_genomic_location> <reference_genomic_location id="11" start="1310" end="1311" strand="0" > <reference_genomic_landmark id="AF007567.1" molecule="RNA" > <db_xref db="EMBL" uid="AF007567.1" field="version" /> </reference_genomic_landmark> </reference_genomic_location> <!-- links variant to one transcript --> <genic_polymorphism original_residue="" changed_residue=""> <genomic_gene_structure id="GID000004227" /> <transcription_change original_residue="GA" changed_residue="AT" original_codon="CGA" changed_codon="CAT"> <translation_change original_residue="R" changed_residue="H"/> </transcription_change> </genic_polymorphism> <db_xref db="dbSNP" uid="rs1800993" field="rsID"/> <!-- additional genomic features --> <annotation name="externalFeatures" value="LINE" unit="repeat"/> <annotation name="externalFeatures" value="L1ME4a" unit="repeat"/> <annotation name="comment" value="Low heterozygosity observed. STS & polymorphism developed from public database sequence" /> <!-- bibliographic reference --> <journal_article volume="41" first_page="969" last_page="974" date="1998"> <person role="author" surname="Almind" first_name="K" et_al="true" /> <journal name="Diabetologia"/> <db_xref role="identifier" db="Pubmed" uid="9726601" field="pmid"/> <source id="SUB000000001" name="Anthony J Brookes" /> <bibref_subject> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Adult" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Alleles" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Amino Acid Sequence" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Amino Acids/genetics*" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Codon" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Cohort Studies" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Diabetes Mellitus, Non-Insulin-Dependent/genetics*" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Female" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Gene Frequency" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Glucose Tolerance Test" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Human" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Insulin Resistance/genetics*" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Male" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Middle Age" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Mutation*" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Phosphoproteins/genetics*" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Phosphoproteins/chemistry" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Polymorphism, Single-Stranded Conformational" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="Support, Non-U.S. Govt" /> <subject_descriptor role="subject_heading" vocabulary_name="MeSH" term="X Chromosome" /> <subject_descriptor role="keyword" vocabulary_name="HGVbase" term="Literature" /> </bibref_subject> </journal_article> </genomic_polymorphism> <!-- <db_xref db="Pubmed" uid="9726601" field="pmid"/> --> <!-- Assay centered section --> <panel id="POP000000227" ethnicity="Danish Caucasian" count_unit="chromosome" size="267" /> <polymorphism_assay id ="1000" > <genomic_polymorphism id="GEN000002654" > <genomic_allele id="GEN000002654.ALE000000001"> <genomic_allele_population_frequency value="0.06"> <panel id="POP000000227" /> </genomic_allele_population_frequency> </genomic_allele> </genomic_polymorphism> <genomic_polymorphism id="GEN000002654" > <genomic_allele id="GEN000002654.ALE000000002"> <genomic_allele_population_frequency value="0.94"> <panel id="POP000000227" /> </genomic_allele_population_frequency> </genomic_allele> </genomic_polymorphism> </polymorphism_assay> </pml>