SiMPLOD v. 0.6.2 alpha

LH1 ALA099THR

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.
SiMPLOD1-6

Isoenzyme
  Follow the links to gather information about the LH1 isoenzyme
Lysyl Hydroxylase 1 (human) - UniProt - Full Info

Nucleotide mutation
  Follow the links to explore annotated information about the significance of the PLOD1 c.295G>A mutation
PLOD1 NM_000302.2:c.295G>A - NCBI RefSeq
NCBI SNP: rs7551175
NCBI ClinVar: 196247

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

LOVD
  Link to Leiden Open Variation Database (LOVD)
c.295G>A

Clinical Databases
  Link to clinical databases, including OMIM (Online Mendelian Inheritance in Man), Orphanet, ICD-10 (International Statistical Classification of Diseases and Related Health Problems, rev. 10), MeSH (Medical Subject Headings)
OMIM: 225400 Orphanet: ORPHA:1900 ICD-10: Q79.6 MeSH: C536198

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.

References
  Publications (and associated links) describing the mutation
Yip et al., 2011 - PubMed

Notes from publications
  A curated excerpt with information about the mutation from the publications found above
Yip et al. investigated the role of Ala099Thr mutation in causing high myopia. The study revealed this mutation not to have a role in the myopia.

Last Update
  An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure
2021-06-23 08:38:51

The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH1 (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):

LH1 ALA099THR
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.	SiMPLOD1-6
Isoenzyme Follow the links to gather information about the LH1 isoenzyme	Lysyl Hydroxylase 1 (human) - UniProt - Full Info
Nucleotide mutation Follow the links to explore annotated information about the significance of the PLOD1 c.295G>A mutation	PLOD1 NM_000302.2:c.295G>A - NCBI RefSeq NCBI SNP: rs7551175 NCBI ClinVar: 196247
Mutation type Current information about the clinical implications of the mutation	Benign
LOVD Link to Leiden Open Variation Database (LOVD)	c.295G>A
Clinical Databases Link to clinical databases, including OMIM (Online Mendelian Inheritance in Man), Orphanet, ICD-10 (International Statistical Classification of Diseases and Related Health Problems, rev. 10), MeSH (Medical Subject Headings)	OMIM: 225400 Orphanet: ORPHA:1900 ICD-10: Q79.6 MeSH: C536198
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.
References Publications (and associated links) describing the mutation	Yip et al., 2011 - PubMed
Notes from publications A curated excerpt with information about the mutation from the publications found above	Yip et al. investigated the role of Ala099Thr mutation in causing high myopia. The study revealed this mutation not to have a role in the myopia.
Last Update An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure	2021-06-23 08:38:51
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH1 (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):