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The PLOD3 mutation data have been added to a new database.

LOVD - Variant listings for PLOD3

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+/+ 06 c.668A>G
    + c.2071delT
- Substitution Missense p.(Asn223Ser) - - - PLOD3_00001 Connective Tissue Disorder Salo et al., 2008 RNA RT-PCR, SEQ The proband is described as having a connective tissue disorder with a unique phenotype which overlaps several known collagen disorders including Stickler syndrome, Ehlers-Danlos syndrome type IV, Ehlers-Danlos syndrome type VI, Bruck syndrome and epidermolysis bullosa. European
+?/+? 08 c.809C>T
    + c.809C>T
- Substitution Missense p.Pro270Leu - - - PLOD3_00005 Patient 1 - Ewans et al., 2019 DNA SEQ, WES The proband is described as having a connective tissue disorder with a unique phenotype which overlaps several known collagen disorders including Stickler syndrome, kyphoscoliotic EDS, musculocontractural EDS, and epidermolysis bullosa. The proband (29M) was born to consanguineous parents, and had two siblings who also displayed a similar phenotype. The homozygous variant cosegregated with phenotype in their family, being absent in an unaffected sibling and heterozygous in the parents. Lebanese
+/+ 12 c.1354C>T
    + c.1354C>T
- Substitution Nonsense p.Arg452* - - - PLOD3_00004 17-4086 - Maddirevula et al., 2019 DNA WES The patient is described as having dysmorphic facies, microcephaly, ptosis and contractures. Parents are distant cousins and he has an affected sister. -
+?/+? 17 c.1880T>C
    + c.1880T>C
- Substitution Missense p.Leu627Pro - - - PLOD3_00006 - Vahidnezhad et al., 2018 DNA SEQ, WES This patient (4.5M) carries a recessive dystrophic EB-like phenotype with additional symptoms of scoliosis and flexion contractions in elbows and joints, with a homozygous variant in PLOD3. They have consanguineous parents, who are both heterozygous for the variant. No variants were found in the gene panel of 20 EB-associated genes, or in COL7A1. Iranian
+/+ 17i c.1935+1G>A
    + c.1935+1G>A
- Substitution Splice site - - - - PLOD3_00003 EDS Steichen-Gersdorf et al., 2013 ESHG Conference 2013: Poster P01.076 DNA SEQ The proband had scoliosis but his sister who was also homomzygous for the same variant did not. The authors claimed this PLOD3 caused disease may be a new form of the vascular-contractural-deafness type of EDS (VCD EDS). -
+/+ 19 c.2071delT
    + c.668A>G
- Deletion Frameshift p.(Cys691Alafs*9) - - - PLOD3_00002 Connective Tissue Disorder Salo et al., 2008 RNA RT-PCR, SEQ The proband is described as having a connective tissue disorder with a unique phenotype which overlaps several known collagen disorders including Stickler syndrome, Ehlers-Danlos syndrome type IV, Ehlers-Danlos syndrome type VI, Bruck syndrome and epidermolysis bullosa. European
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Legend: [ PLOD3 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. PLOD3 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient