Cloned (Comment) | Organism |
---|---|
gene SDHD, DNA and amino acid sequence determination and analysis of wild-type and mutant genes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D92Y | naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype | Homo sapiens |
G148D | naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype | Homo sapiens |
L85X | naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype | Homo sapiens |
additional information | splicing defect mutant IVS2+5GA is a naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype | Homo sapiens |
W43X | naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype | Homo sapiens |
Y114X | naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
SDH | - |
Homo sapiens |