About Contact References Structures Adv. Search Stats Demo

LH2a CYS113CYS (LH2a) - CYS113CYS (LH2b)


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.
SiMPLOD2-1089
Isoenzyme
  Follow the links to gather information about the LH2a isoenzyme
Lysyl Hydroxylase 2a (human) - UniProt - Full Info
Nucleotide mutation
  Follow the links to explore annotated information about the significance of the PLOD2 c.339C>T mutation
PLOD2 NM_000935.2:c.339C>T - NCBI RefSeq
NCBI SNP: rs149937068
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 does not alter the aminoacid sequence of the enzyme, and therefore is expected to 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
SiMPLOD1-176: LH1 SER101SER (Conflicting interpretations)
Last Update
  An evaluation of the possible effects/implications of the mutations on the LH2a molecular structure
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):

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.