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SEQUENCE ONTOLOGY - ANNOTATIONS

The Sequence Types and Features Ontology (SO) is downloaded weekly from the SourceForge CVS repository at http://song.cvs.sourceforge.net/viewvc/song/ontology/. For more information about this ontology, see the Sequence Ontology Home Page at http://www.sequenceontology.org/.

Term:missense_variant
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Accession:SO:0001583 term browser browse the term
Definition:A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved.
Comment:EBI term: Non-synonymous SNPs. SNPs that are located in the coding sequence and result in an amino acid change in the encoded peptide sequence. A change that causes a non_synonymous_codon can be more than 3 bases - for example 4 base substitution.
Synonyms:exact_synonym: Jannovar:missense_variant;   Seattleseq:missense;   VAAST:missense_variant;   VAT:nonsynonymous;   VEP:missense_variant;   missense;   missense codon;   snpEff:NON_SYNONYMOUS_CODING
 related_synonym: ANNOVAR:nonsynonymous SNV;   Seattleseq:missense-near-splice;   VAAST:non_synonymous_codon
 alt_id: SO:0001584;   SO:0001783
 xref: EBI:www.ebi.ac.uk/mutations/recommendations/mutevent.html;   http://en.wikipedia.org/wiki/Missense_mutation;   http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp "Seattleseq";   http://snpeff.sourceforge.net/SnpEff_manual.html;   http://vat.gersteinlab.org/formats.php "VAT";   http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences;   loinc:LA6698-0 "Missense"



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  SO ontology 0
    sequence_variant 0
      structural_variant 0
        feature_variant 0
          gene_variant 0
            transcript_variant 0
              coding_transcript_variant 0
                coding_sequence_variant 0
                  protein_altering_variant 0
                    inframe_variant 0
                      nonsynonymous_variant 0
                        missense_variant 0
                          conservative_missense_variant 0
                          non_conservative_missense_variant + 0
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