LH3 PRO662GLN | ||
SiMPLOD ID This is the unique identifier for this mutation in the SiMPLOD database. Please use this identifier when linking information described in SiMPLOD about this mutation. |
SiMPLOD3-696 | |
Isoenzyme Follow the links to gather information about the LH3 isoenzyme |
Lysyl Hydroxylase 3 (human) - UniProt - Full Info | |
Nucleotide mutation Follow the links to explore annotated information about the significance of the PLOD3 c.1985C>A mutation |
PLOD3 NM_001084.4:c.1985C>A - NCBI RefSeq NCBI SNP: rs138165832 |
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Mutation type Current information about the clinical implications of the mutation |
SNP without clinical evidence | |
Evidence at protein level Based on available structural and biochemical information, a statement about the existence of an LH enzyme variant bearing the described mutation is provided |
This variant MAY EXIST at the protein level, although no experimental evidence is currently available to support its existence. | |
Related Entries A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized |
SiMPLOD3-697: LH3 PRO662LEU (SNP) SiMPLOD3-702: LH3 PRO662PRO (SNP) | |
Last Update An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure |
2021-06-23 08:38:51 | |
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH3 (generated using the crystal structure of full-length human LH3 as template). You may select a different PDB model file to visualize the mutation(s) using the drop-down menu below (page will refresh): |
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