rare_amino_acid_variant [SO_0002008]

A sequence variant whereby at least one base of a codon encoding a rare amino acid is changed, resulting in a different encoded amino acid. Request from Uma Devi Paila, UVA. Variants in the sites of rare amino acids e.g. Selenocysteine. These are important impact terms since a loss of such rare amino acids may lead to a loss of function.

Open rare_amino_acid_variant in VFB

VFB Term Json

{
    "term": {
        "core": {
            "iri": "http://purl.obolibrary.org/obo/SO_0002008",
            "symbol": "",
            "types": [
                "Entity",
                "Class"
            ],
            "short_form": "SO_0002008",
            "label": "rare_amino_acid_variant"
        },
        "description": [
            "A sequence variant whereby at least one base of a codon encoding a rare amino acid is changed, resulting in a different encoded amino acid."
        ],
        "comment": [
            "Request from Uma Devi Paila, UVA. Variants in the sites of rare amino acids e.g. Selenocysteine. These are important impact terms since a loss of such rare amino acids may lead to a loss of function."
        ]
    },
    "query": "Get JSON for Class",
    "version": "44725ae",
    "parents": [
        {
            "symbol": "",
            "iri": "http://purl.obolibrary.org/obo/SO_0001586",
            "types": [
                "Entity",
                "Class"
            ],
            "short_form": "SO_0001586",
            "label": "non_conservative_missense_variant"
        }
    ],
    "relationships": [],
    "xrefs": [],
    "anatomy_channel_image": [],
    "pub_syn": [
        {
            "synonym": {
                "scope": "has_exact_synonym",
                "label": "rare amino acid variant",
                "type": ""
            },
            "pub": {
                "core": {
                    "symbol": "",
                    "iri": "http://flybase.org/reports/Unattributed",
                    "types": [
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                        "Individual",
                        "pub"
                    ],
                    "short_form": "Unattributed",
                    "label": ""
                },
                "FlyBase": "",
                "PubMed": "",
                "DOI": ""
            }
        },
        {
            "synonym": {
                "scope": "has_exact_synonym",
                "label": "snpEff:RARE_AMINO_ACID",
                "type": ""
            },
            "pub": {
                "core": {
                    "symbol": "",
                    "iri": "http://flybase.org/reports/Unattributed",
                    "types": [
                        "Entity",
                        "Individual",
                        "pub"
                    ],
                    "short_form": "Unattributed",
                    "label": ""
                },
                "FlyBase": "",
                "PubMed": "",
                "DOI": ""
            }
        }
    ],
    "def_pubs": [
        {
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                "symbol": "",
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                "types": [
                    "Entity",
                    "Individual",
                    "pub"
                ],
                "short_form": "Unattributed",
                "label": ""
            },
            "FlyBase": "",
            "PubMed": "",
            "DOI": ""
        }
    ]
}