SiMPLOD v. 0.6.2 alpha

LH3 ALA393ALA

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.
SiMPLOD3-308

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.1179C>T mutation
PLOD3 NM_001084.4:c.1179C>T - NCBI RefSeq
NCBI SNP: rs11546152
NCBI ClinVar: 440177

Mutation type
  Current information about the clinical implications of the mutation
Benign

LOVD
  Link to Leiden Open Variation Database (LOVD)
c.1179C>T

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
SiMPLOD1-11: LH1 ALA383ALA (Likely benign)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-320: LH1 delta367-443 (Pathogenic)
SiMPLOD3-567: LH3 ALA393PRO (SNP)
SiMPLOD3-568: LH3 ALA393SER (SNP)
SiMPLOD3-569: LH3 ALA393THR (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):

LH3 ALA393ALA
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.	SiMPLOD3-308
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.1179C>T mutation	PLOD3 NM_001084.4:c.1179C>T - NCBI RefSeq NCBI SNP: rs11546152 NCBI ClinVar: 440177
Mutation type Current information about the clinical implications of the mutation	Benign
LOVD Link to Leiden Open Variation Database (LOVD)	c.1179C>T
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	SiMPLOD1-11: LH1 ALA383ALA (Likely benign) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-567: LH3 ALA393PRO (SNP) SiMPLOD3-568: LH3 ALA393SER (SNP) SiMPLOD3-569: LH3 ALA393THR (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):