LH2a ASP348TYR (LH2a) - ASP348TYR (LH2b) | ||
SiMPLOD ID ![]() |
SiMPLOD2-234 | |
Isoenzyme ![]() |
Lysyl Hydroxylase 2a (human) - UniProt - Full Info | |
Nucleotide mutation ![]() |
PLOD2 NM_000935.2:c.1042G>T - NCBI RefSeq NCBI SNP: rs749867902 NCBI ClinVar: 499451 |
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Mutation type ![]() |
Uncertain significance | |
Disease Phenotype ![]() |
no disease phenotype information available | |
Evidence at protein level ![]() |
This variant MAY EXIST at the protein level, although no experimental evidence is currently available to support its existence. | |
Related Entries ![]() |
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD2-963: LH2a ASP348GLY (SNP) SiMPLOD3-343: LH3 PRO348ARG (SNP) SiMPLOD3-344: LH3 PRO348LEU (SNP) SiMPLOD3-576: LH3 PRO348PRO (SNP) | |
Last Update ![]() |
2021-06-23 08:38:51 | |
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH2a (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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