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

LOVD - Variant listings for PLOD1

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56 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
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Type Hide Type column Descending
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Mutation Effect Hide Mutation Effect column Descending
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Protein Hide Protein column Descending
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RNA change Hide RNA change column Descending
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Re-site Hide Re-site column Descending
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DB-ID Hide DB-ID column Descending
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Frequency Hide Frequency column Descending
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02 c.145C>T - Substitution Nonsense p.(Gln49*) - -BspCNI PLOD1_00020 -
02 c.153_154insC - Insertion Frameshift p.(Asn52Glnfs*52) - +Mmel PLOD1_00011 -
03 c.244A>T
  (Reported 4 times)
- Substitution Nonsense p.Lys82* - - PLOD1_00052 -
03 c.254T>C
  (Reported 2 times)
- Substitution Missense p.(Leu85Pro) - +MspI, -BpmI PLOD1_00035 -
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 -
04 c.426T>A - Substitution Nonsense p.(Tyr142*) - +AgeI, -BciVI PLOD1_00017 -
04i c.466+1G>A
  (Reported 2 times)
- Substitution Splice site - - -MnlI, -HphI PLOD1_00036 -
4i c.467-2A>G - Substitution Splice site - - - PLOD1_00050 -
04i c.467-2delA - Deletion Splice site - - +BslI, -Acul PLOD1_00010 -
05i c.579+1G>A - Substitution Splice site - - - PLOD1_00024 -
06 c.622C>T
  (Reported 2 times)
- Substitution Nonsense p.(Gln208*) - - PLOD1_00043 -
06i c.644-17T>G dbSNP Substitution Silent p.(=) - -HpyCH4III PLOD1_00025 -
07 c.741G>A - Substitution Silent - - - PLOD1_00053 -
09 c.926_934del - Deletion In-frame deletion p.Leu309_Leu311del - - PLOD1_00048 -
09 c.955C>T
  (Reported 14 times)
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001 -
09i c.975+2_975+3insTT
  (Reported 2 times)
- Insertion Exon deletion p.Asp282_His325del - -BbrPI, -PmlI PLOD1_00018 -
09i c.975+975_1755+?dup
  (Reported 40 times)
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 -
9i c.976-16C>T
  (Reported 2 times)
- Substitution Splice site - - - PLOD1_00054 -
10 c.979C>T
  (Reported 3 times)
- Substitution Nonsense p.(Gln327*) - -Fnu4HI, -ApeKI PLOD1_00015 -
10 c.1033C>T
  (Reported 2 times)
- Substitution Nonsense p.(Gln345*) - +ScaI, -BsrI PLOD1_00037 -
10 c.1095C>T
  (Reported 3 times)
- Substitution Splice site - - -BstUI, -HinP1I PLOD1_00021 -
10i c.(1097+1_1098-1)_(1328+1_1329-1)del - Deletion In-frame deletion p.Asp367_Val443del - - PLOD1_00045 -
10i c.1098-8C>T - Substitution Splice site - - - PLOD1_00055 -
10i c.1098-?_1328+?del - Deletion Multi-exon deletion p.Asp367_Val443del - - PLOD1_00051 -
11 c.1103_1117del
  (Reported 2 times)
- Deletion In-frame deletion p.(Asp368_Gln372del) - +Mwol, -NaeI PLOD1_00019 -
11 c.1120_1756-1553del
  (Reported 2 times)
- Deletion Frameshift p.(Asp367Profs*34) - +BstUI, -EaeI PLOD1_00041 -
12 c.1206C>T dbSNP Substitution Silent p.(=) - -HpyCH4IV PLOD1_00026 -
12 c.1263dupT
  (Reported 2 times)
- Insertion Frameshift p.(Leu422Serfs*44) - -MwoI, -BanII PLOD1_00038 -
12 c.1302C>G
  (Reported 3 times)
- Substitution Nonsense p.(Tyr434*) - +BfaI PLOD1_00002 -
13 c.1336T>G
  (Reported 4 times)
- Substitution Missense p.(Trp446Gly) - - PLOD1_00013 -
13 c.1362delC
  (Reported 7 times)
- Deletion Frameshift p.(Tyr455Thrfs*2) - - PLOD1_00007 -
13 c.1388G>A - Substitution Missense p.Arg463Gln - - PLOD1_00056 -
13i c.(1470+1_1471-1)_(1650+1_1651-1)del - Deletion In-frame deletion p.Asp491_Thr550del - - PLOD1_00046 -
13i c.1471-8C>T dbSNP Substitution Splice site - - - PLOD1_00060 -
13i c.1471-1G>A
  (Reported 2 times)
- Substitution Splice site - - -BssKI, -StyD4I PLOD1_00040 -
14 c.1495C>T - Substitution Missense p.Arg499Trp - - PLOD1_00057 -
14 c.1533C>G
  (Reported 8 times)
- Substitution Nonsense p.(Tyr511*) - +NheI, +Bfal PLOD1_00012 -
14 c.1563G>A - Substitution Nonsense p.(Trp521*) - - PLOD1_00047 -
15 c.1594_1596del - Deletion In-frame deletion p.(Glu532del) - +MboII , -HpyAV PLOD1_00008 -
15 c.1632A>C dbSNP Substitution Silent p.(=) - +EaeI,+BssKI PLOD1_00027 -
15i c.1651-2A>G
  (Reported 4 times)
- Substitution Splice site p.(Pro551_Lys585del) - +BssKI, -BseYI PLOD1_00039 -
15i c.1651-2delA - Deletion Splice site p.(Pro551_Lys585del) - +MwoI, -BseYI PLOD1_00032 -
16 c.1677dupC
  (Reported 2 times)
- Duplication Frameshift p.(Ile560Hisfs*8) - - PLOD1_00014 -
16i c.1756-?_1902+?del
  (Reported 3 times)
- Deletion Exon deletion p.(Asp586_Arg634del) - +EaeI, +Fnu4HI PLOD1_00033 -
17 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G] - Other/Complex Frameshift p.[(Asn587Arg);Gly592Alafs*4;(Pro597Arg)] - +Hgal, -Bsll PLOD1_00023 -
17 c.1836G>C - Substitution Missense p.(Trp612Cys) - -Mwol PLOD1_00006 -
17 c.1863_1864dup
  (Reported 2 times)
- Duplication Frameshift p.(Pro622Argfs*3) - - PLOD1_00042 -
18 c.1927G>A - Substitution Missense p.Val643Ile - - PLOD1_00059 -
18 c.1999G>A
  (Reported 2 times)
- Substitution Missense p.(Ala667Thr) - +HphI , -BtgZI PLOD1_00004 -
18 c.2008C>T - Substitution Nonsense p.(Arg670*) - +DdeI, -Bsll PLOD1_00016 -
18 c.2025C>G
  (Reported 2 times)
- Substitution Nonsense p.(Tyr675*) - - PLOD1_00044 -
19 c.2032G>A
  (Reported 3 times)
- Substitution Missense p.(Gly678Arg) - +AlwNI, -Faul PLOD1_00009 -
19 c.2117A>G
  (Reported 2 times)
- Substitution Missense p.(His706Arg) - +BstUI, +MluI PLOD1_00005 -
19 c.2170_2172del - Deletion In-frame deletion p.Phe724del - - PLOD1_00049 -
1 - 56

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.