About Contact References Structures Adv. Search Stats Demo

LH3 TRP148END


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.
SiMPLOD3-476
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.443G>T mutation
PLOD3 NM_001084.4:c.443G>T - NCBI RefSeq
NCBI SNP: rs753715522
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
Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 148, and may result in misfolding and/or complete absence of the enzyme.

This variant is EXTREMELY UNLIKELY to be compatible with a folded LH enzyme. The representation shown in the structure viewer is therefore for mere display purposes and does not refer to an actual predicted existing protein product.
Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure
Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD1-765: LH1 ARG136CYS (SNP)
SiMPLOD1-1187: LH1 ARG136HIS (Uncertain significance)
SiMPLOD3-266: LH3 TRP148ASN;LEU150THR (for biochemistry)
SiMPLOD3-456: LH3 TRP148ARG (SNP)
SiMPLOD3-474: LH3 TRP148LEU (SNP)
SiMPLOD3-475: LH3 TRP148SER (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):

Thank you for using SiMPLOD - Created by Fornerislab@UniPV  - Last curated update: 1970-01-01 00:00:00
We truly hate messages and disclaimers about cookies and tracking of personal info. But don't worry, we don't use any.