SiMPLOD v. 0.6.2 alpha

LH2a ARG054END (LH2a) - ARG054END (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.
SiMPLOD2-1159

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.160C>T mutation
PLOD2 NM_000935.2:c.160C>T - NCBI RefSeq
NCBI SNP: rs780902890

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 054, 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 LH2a molecular structure

Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD1-726: LH1 ARG043CYS (SNP)
SiMPLOD1-727: LH1 ARG043GLY (SNP)
SiMPLOD1-742: LH1 ARG043ARG (SNP)
SiMPLOD1-913: LH1 ARG043HIS (SNP)
SiMPLOD2-1090: LH2a ARG054GLN (SNP)
SiMPLOD2-1091: LH2a ARG054LEU (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 ARG054END (LH2a) - ARG054END (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.	SiMPLOD2-1159
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.160C>T mutation	PLOD2 NM_000935.2:c.160C>T - NCBI RefSeq NCBI SNP: rs780902890
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 054, 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 LH2a molecular structure
Related Entries A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-726: LH1 ARG043CYS (SNP) SiMPLOD1-727: LH1 ARG043GLY (SNP) SiMPLOD1-742: LH1 ARG043ARG (SNP) SiMPLOD1-913: LH1 ARG043HIS (SNP) SiMPLOD2-1090: LH2a ARG054GLN (SNP) SiMPLOD2-1091: LH2a ARG054LEU (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):