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The PLOD1 mutation data have been added to a new database.

LOVD - Variant listings for PLOD1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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9 entries
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Exon Hide Exon column Descending

DNA change   Descending

dbSNP Hide dbSNP column Descending

Type Hide Type column Descending

Mutation Effect Hide Mutation Effect column Descending

Protein Hide Protein column Descending

RNA change Hide RNA change column Descending

Re-site Hide Re-site column Descending

DB-ID Hide DB-ID column Descending

Frequency Hide Frequency column Descending
03 c.294C>T dbSNP Substitution Silent p.(=) - +HpyCH4V PLOD1_00028 -
03 c.295G>A
  (Reported 2 times)
dbSNP Substitution Missense p.(Ala99Thr) - - PLOD1_00022 -
04 c.358G>T dbSNP Substitution Missense p.(Ala120Ser) - +Hpy188I PLOD1_00030 -
06i c.644-17T>G dbSNP Substitution Silent p.(=) - -HpyCH4III PLOD1_00025 -
07 c.741G>A - Substitution Silent - - - PLOD1_00053 -
10i c.1098-8C>T - Substitution Splice site - - - PLOD1_00055 -
12 c.1206C>T dbSNP Substitution Silent p.(=) - -HpyCH4IV PLOD1_00026 -
13i c.1471-8C>T dbSNP Substitution Splice site - - - PLOD1_00060 -
15 c.1632A>C dbSNP Substitution Silent p.(=) - +EaeI,+BssKI PLOD1_00027 -
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Legend: [ PLOD1 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.
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. PLOD1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Frequency: Frequency if variant is non pathogenic.