<?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>