SiMPLOD v. 0.6.2 alpha

LH2a ARG380HIS (LH2a) - ARG380HIS (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.
SiMPLOD2-1141

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.1139G>A mutation
PLOD2 NM_000935.2:c.1139G>A - NCBI RefSeq
NCBI SNP: rs144110908

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
SiMPLOD1-37: LH1 ARG370ARG (Likely benign)
SiMPLOD1-72: LH1 delta368-372 (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-320: LH1 delta367-443 (Pathogenic)
SiMPLOD1-816: LH1 ARG370GLN (SNP)
SiMPLOD1-817: LH1 ARG370LEU (SNP)
SiMPLOD1-920: LH1 ARG370TRP (Uncertain significance)
SiMPLOD2-228: LH2a ARG380CYS (Pathogenic)
SiMPLOD2-1105: LH2a ARG380LEU (SNP)
SiMPLOD3-441: LH3 ARG380GLN (SNP)

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):

LH2a ARG380HIS (LH2a) - ARG380HIS (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.	SiMPLOD2-1141
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.1139G>A mutation	PLOD2 NM_000935.2:c.1139G>A - NCBI RefSeq NCBI SNP: rs144110908
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	SiMPLOD1-37: LH1 ARG370ARG (Likely benign) SiMPLOD1-72: LH1 delta368-372 (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-816: LH1 ARG370GLN (SNP) SiMPLOD1-817: LH1 ARG370LEU (SNP) SiMPLOD1-920: LH1 ARG370TRP (Uncertain significance) SiMPLOD2-228: LH2a ARG380CYS (Pathogenic) SiMPLOD2-1105: LH2a ARG380LEU (SNP) SiMPLOD3-441: LH3 ARG380GLN (SNP)
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):