LOVD - Variant listings for PLOD1

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+/+ 02 c.145C>T
    + c.1103_1117del
- Substitution Nonsense p.(Gln49*) - -BspCNI PLOD1_00020 Patient 716 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 variants, c.169C>T and the 15-bp deletion at position c.1123_1137, are both incorrectly described in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession M98252. The patient died at the age of 14 due to an arterial rupture. This patient is also described as Cell Line 716 by Yeowell et al., 2000. -
+/+ 02 c.153_154insC
    + c.467-2delA
- Insertion Frameshift p.(Asn52Glnfs*52) - +Mmel PLOD1_00011 - EDS VI Heikkinen et al., 1999 DNA, RNA PCR, RT-PCR, SEQ - British
+/+ 03 c.254T>C
    + c.254T>C
- Substitution Missense p.(Leu85Pro) - +MspI, -BpmI PLOD1_00035 P2 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ - Serbian
-/- 03 c.294C>T dbSNP Substitution Silent p.(=) - +HpyCH4V PLOD1_00028 - - - DNA SEQ A study by Huang et al., 2009 reported a significant genotypic/allelic association between the polymorphism and bone mineral density within the chinese population. Tasker et al., 2006 also observed a weak association between this SNP and spinal bone mineral density. -
-/- 03 c.295G>A dbSNP Substitution Missense p.(Ala99Thr) - - PLOD1_00022 - - - DNA PCR, SEQ A study by Tasker et al., 2006 found an association between this PLOD1 variant and bone mineral density for the lumbar spine in a cohort of 678 Scottish women. A similar association is also reported in Yamada et al., 2007 found within the Japanese population. Both studies have incorrectly described the variant as 386G>A. -
-/- 04 c.358G>T dbSNP Substitution Missense p.(Ala120Ser) - +Hpy188I PLOD1_00030 - - DNA SEQ - -
+/+ 04 c.426T>A
    + c.979C>T
- Substitution Nonsense p.(Tyr142*) - +AgeI, -BciVI PLOD1_00017 1199 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 variants are incorrectly described as 450T>A and 1003C>T in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. North American
+/+ 04i c.466+1G>A
    + c.466+1G>A
- Substitution Splice site - - -MnlI, -HphI PLOD1_00036 P10 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ The splice-site variant in this patient is predicted to result in skipping of exon 4. Spanish
+/+ 04i c.467-2delA
    + c.153_154insC
- Deletion Splice site - - +BslI, -Acul PLOD1_00010 - EDS VI Heikkinen et al., 1999 DNA, RNA PCR, RT-PCR, SEQ - British
+/+ 05i c.579+1G>A
    + c.1533C>G
- Substitution Splice site - - - PLOD1_00024 SF996 EDS VI Yeowell and Walker, 1997 DNA PCR, SEQ, Southern The paternally inherited variant is incorrectly described as c.1557C>G in Yeowell and Walker, 1997. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. The patient's unaffected younger sibling was one of the first individuals to have a prenatal assessment of EDS VI by mutational anaylsis. This is reported in Yeowell and Walker, 1999; the outcome of the assessment revealed the foetus had inherited the maternal allele containing the splice-site mutation and a normal non-mutated allele from the father. Although a carrier of this disease, the individual was born healthy. The patient is also described as cell line 996 by Yeowell et al., 2000. -
+/+ 06 c.622C>T
    + c.622C>T
- Substitution Nonsense p.(Gln208*) - - PLOD1_00043 Family 1 EDS VIA Abdalla et al., 2015 DNA PCR, SEQ The parents are first cousins. Egyptian
-/- 06i c.644-17T>G dbSNP Substitution Silent p.(=) - -HpyCH4III PLOD1_00025 - - - DNA PCR, SEQ A study by Spotila et al., 2003 found an association between this SNP in the PLOD1 gene and bone mineral density in the lumbar spine and femoral neck among a population of European descent. -
+/+ 09 c.955C>T
    + c.955C>T
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001 H.A. EDS VI Hyland et al., 1992 RNA RT-PCR, SEQ According to the pedigree in figure 3, the probands are actually the second (H.A.) and fourth (N.A.) children in the family, rather than the third and fifth, as reported. The parents are first cousins. Turkish(?)
+/+ 09 c.955C>T
    + c.955C>T
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001 P6 EDS VIA Giunta et al., 2005b DNA PCR, SEQ Patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.845C>T in Giunta et al., 2005b. The correct variant description has been confirmed with the authors. Arab
+/+ 09 c.955C>T
    + c.955C>T
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001 P1 Nevo Syndrome Giunta et al., 2005a DNA PCR, SEQ The parents of P1 are first cousins. The PLOD1 variant is incorrectly described as c.954CGA>TGA in Giunta et al., 2005a. Arab
+/+ 09 c.955C>T
    + c.955C>T
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001 P2 Nevo Syndrome Giunta et al., 2005a DNA PCR, SEQ The patient has first cousin parents. The mutation is incorrectly described as c.954CGA>TGA in Giunta et al., 2005a. Arab
+/+ 09 c.955C>T
    + c.955C>T
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001 P3 Nevo Syndrome Giunta et al., 2005a DNA PCR, SEQ P3 has first cousin parents and is a second cousin to P2 in Giunta et al., 2005a. The PLOD1 variant is incorrectly described as c.954CGA>TGA in the paper. Arab
+/+ 09 c.955C>T
    + c.955C>T
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001 P4 EDS VIA Giunta et al., 2005a DNA PCR, SEQ The parents of P4 are first cousins. The PLOD1 variant is incorrectly described as c.954CGA>TGA in Giunta et al., 2005a. The patient has also been previously reported as case 1 in al-Gazali et al., 1997, with Nevo Syndrome. Arab
+/+ 09 c.955C>T
    + c.955C>T
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001 P5 EDS VIA Giunta et al., 2005a DNA PCR, SEQ P5 is the first child of distantly related parents and has an affected sister reported as P6 in Giunta et al., 2005a. The affected sibling harbours the same variant. There is variability in the phenotype as P6 is diagnosed with Nevo Syndrome. The PLOD1 variant is incorrectly described as c.954CGA>TGA in Giunta et al., 2005a. The patient has also been previously reported as case 2 in al-Gazali et al., 1997, with Nevo Syndrome. Arab
+/+ 09i c.975+2_975+3insTT
    + c.975+2_975+3insTT
- Insertion Exon deletion p.Asp282_His325del - -BbrPI, -PmlI PLOD1_00018 - EDS VI Pajunen at al., 1998 DNA, RNA PCR, RT-PCR, SEQ The patient's parents are related by blood; the father and maternal grandfather of the patient are cousins. This patient was mentioned, in passing, in the introduction of Heikkinen et al., 1997. -
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P1 EDS VIA Giunta et al., 2005b DNA PCR, SEQ P1 has consanguineous parents and also has a female sibling who is more severly affected. The PLOD1 variant is incorrectly described as c.1067_1846dup in Giunta et al., 2005b. The actual variant details have been confirmed with the authors. The patient is clinically described as patient O.A.in Jarisch et al., 1998. An affected sibling of the patient, M.A., is also described in Jarisch et al., 1998. Both siblings are affected with both EDS VI and Cystic Fibrosis. Turkish
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P3 EDS VIA Giunta et al., 2005b DNA CSGE The consanguinity of parents of the patient is unknown. The PLOD1 variant is incorrectly described as c.1067_1846dup in Giunta et al., 2005b. The actual variant details have been confirmed with the authors. Albanian
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P2 EDS VIA Giunta et al., 2005b DNA PCR, SEQ The PLOD1 variant is incorrectly described as c.1067_1846dup in Giunta et al., 2005b. The actual variant details have been confirmed with the authors. German
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P4 EDS VIA Giunta et al., 2005b DNA PCR, SEQ The patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.1067_1846dup in Giunta et al., 2005b. The actual variant details have been confirmed with the authors. Bosnian
+/+ 09i c.975+975_1755+?dup
    + c.1362delC
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P5 EDS VIA Giunta et al., 2005b DNA PCR, SEQ The paternal duplication variant was published by Heikkinen et al., 1997 (presumably as patient AB) whereas the maternal mutation remained undetectable at that time. The maternal variant is incorrectly described as c.1253delC in Giunta et al., 2005b. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The paternal variant is incorrectly described as c.1067_1846dup in Giunta et al., 2005b. The actual variant details have been confirmed with the authors. Bosnian
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 TD EDS VIA Heikkinen et al., 1997 DNA PCR, SEQ, Southern The parents of the patient are first cousins. There are two affected members in the family. Turkish
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 AR EDS VIA Heikkinen et al., 1997 DNA PCR, SEQ, Southern The parents of the patient are first cousins. The patient has two clinically healthy sisters, of whom one was found to be a carrier for the duplicated allele in an enzyme assay reported in Heikkinen et al., 1997. Iranian
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 544 EDS VIA Heikkinen et al., 1997 DNA PCR, SEQ, Southern There are two affected members in the family. American
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 558 EDS VIA Heikkinen et al., 1997 DNA PCR, SEQ, Southern curated: RWMD 16/08/2011 Russian
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P1 (A.R.) EDS VIA Brinckmann et al., 1998 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 variant is incorrectly described as duplication of the nucleotide 1176-1955 in Brinckmann et al., 1998. -
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P3 (S.B.) EDS VIA Brinckmann et al., 1998 DNA, RNA PCR, RT-PCR, SEQ The patient was an adopted turkish girl. The mutation is incorrectly described as a duplication in the nucleotide 1176-1955 in Brinckmann et al., 1998. Turkish
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 1276 EDS VIA Yeowell et al., 2005 DNA, RNA PCR, RT-PCR, SEQ The patient is the first child of healthy consanguineous parents. The patient also suffers from cystic malformations of the meninges which is described in Brunk et al., 2004. Turkish
+/+ 09i c.975+975_1755+?dup
    + c.2008C>T
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 1200 EDS IV Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 substitution variant is incorrectly described as 2032C>T in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. A prenatal diagnosis on the patient's male sibling was carried out. This too is reported in Yeowell et al., 2000 and the outcome of the assessment revealed that the fetus had inherited the mutated paternal allele and a normal non-mutated allele from the mother. Although a carrier of this disease, the individual was born healthy. North American
+/+ 09i c.975+975_1755+?dup
    + c.1533C>G
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 790 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 substitution variant is incorrectly described as 1557C>G in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. North American
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 CRL 1195 EDS VIA Pousi et al., 1994 DNA, RNA PCR, RT-PCR, SEQ, Southern This patient was originally analyzed and clinically described by Sussman et al., 1974. This patient also has an affected brother, described as Case 2 in Sussman et al., 1974. The patient is also mentioned subsequently by Heikkinen et al., 1997 clarifying the ethnic origin. Caucasian (American)
+/+ 09i c.975+975_1755+?dup
    + c.[1760_1761delACinsGA; 1775_1788del; 1790C>G]
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 HR EDS VI Heikkinen et al., 1997 DNA, RNA PCR, RT-PCR, SEQ - German
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 GM01790 EDS VI Hautala et al., 1993 DNA, RNA RT-PCR, SEQ, Southern The sister of the patient also harbours the same variant and she is described as GM01791 in Hautala et al., 1993. The two siblings are also clinically reported in Pinnell et al., 1972 and Krane et al., 1972. The father of the patients is of English-Irish ancestry and the mother is a mixture of Cherokee Indian, Welsh and Dutch. DNA from neither parent is available for study. In Hautala et al., 1993, the nucleotide position of the variant is incorrectly described as 1176 to 1955. The patient is also mentioned subsequently by Heikkinen et al., 1997 giving the ethnic origin. American
+/+ 09i c.975+975_1755+?dup - Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 948 EDS VIA Heikkinen et al., 1997 DNA PCR, SEQ, Southern The sequence variant of PLOD1 gene in the other allele of the patient is unknown. American
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P1 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ - Macedonian
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 P4 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ - Turkish
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 Family 3 EDS VIA Abdalla et al., 2015 DNA PCR, SEQ The parents are first cousins. Egyptian
+/+ 09i c.975+975_1755+?dup
    + c.975+975_1755+?dup
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003 Family 4 EDS VIA Abdalla et al., 2015 DNA PCR, SEQ The parents are first cousins. Egyptian
+/+ 10 c.979C>T
    + c.979C>T
- Substitution Nonsense p.(Gln327*) - -Fnu4HI, -ApeKI PLOD1_00015 1191 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 variant is incorrectly described as 1003C>T in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. North American
+/+ 10 c.979C>T
    + c.426T>A
- Substitution Nonsense p.(Gln327*) - -Fnu4HI, -ApeKI PLOD1_00015 1199 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 variants are incorrectly described as 450T>A and 1003C>T in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. North American
+/+ 10 c.1033C>T
    + c.1033C>T
- Substitution Nonsense p.(Gln345*) - +ScaI, -BsrI PLOD1_00037 P9 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ - Turkish
+/+ 10 c.1095C>T
    + c.1103_1117del
- Substitution Splice site - - -BstUI, -HinP1I PLOD1_00021 Patient 959 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 15-bp deletion and c.1095C>T variants are both incorrectly described in Yeowell et al., 2000. This is due to incorrect use use of an alternative incomplete PLOD1 mRNA sequence: GenBank accession no. M98252. The c.1095C>T variant creates a cryptic splice site resulting in loss of the last 4 bases of exon 10 or skipping of exon 10. This patient is also described as Cell Line 959 by Yeowell et al., 2000. -
+/+ 10 c.1095C>T
    + c.1095C>T
- Substitution Splice site - - -BstUI, -HinP1I PLOD1_00021 P5 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ The c.1095C > T transition in exon 10 is expected to activate a cryptic splice site within exon 10 which would promote aberrant splicing, shift of the open reading frame and premature stop at codon 386. Turkish
+?/+? 10i c.(1097+1_1098-1)_(1328+1_1329-1)del
    + c.(1470+1_1471-1)_(1650+1_1651-1)del
- Deletion In-frame deletion p.Asp367_Val443del - - PLOD1_00045 022001 EDS VIA France:Paris DNA CNGP The patient had a positive family history: her younger sister died at 9 years because of spontaneous abdominal aortic rupture. Urinary pyridinoline analysis showed a significantly increased lysyl-pyridinoline to hydroxylysyl-pyridinoline (LH/HP). Caucasian
+/+ 11 c.1103_1117del
    + c.145C>T
- Deletion In-frame deletion p.(Asp368_Gln372del) - +Mwol, -NaeI PLOD1_00019 Patient 716 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 variants, c.169C>T and the 15-bp deletion at position c.1123_1137, are both incorrectly described in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession M98252. The patient died at the age of 14 due to an arterial rupture. This patient is also described as Cell Line 716 by Yeowell et al., 2000. -
+/+ 11 c.1103_1117del
    + c.1095C>T
- Deletion In-frame deletion p.(Asp368_Gln372del) - +Mwol, -NaeI PLOD1_00019 Patient 959 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 15-bp deletion and c.1095C>T variants are both incorrectly described in Yeowell et al., 2000. This is due to incorrect use use of an alternative incomplete PLOD1 mRNA sequence: GenBank accession no. M98252. The c.1095C>T variant creates a cryptic splice site resulting in loss of the last 4 bases of exon 10 or skipping of exon 10. This patient is also described as Cell Line 959 by Yeowell et al., 2000. -
+/+ 11 c.1120_1756-1553del
    + c.1120_1756-1553del
- Deletion Frameshift p.(Asp367Profs*34) - +BstUI, -EaeI PLOD1_00041 - EDS VIA Giunta et al., 2009 DNA, RNA PCR, RT-PCR, SEQ The unequal recombination ocurring between the two palindromic AGCT sequences are incorrectly described as ACGT in Giunta et al., 2009. -
-/- 12 c.1206C>T dbSNP Substitution Silent p.(=) - -HpyCH4IV PLOD1_00026 - - - DNA PCR, SEQ A study by Spotila et al., 2003 found an assosiation between this SNP in the PLOD1 gene and bone mineral density in the lumbar spine and femoral neck among a population of European descent. The position of the SNP is incorrectly described in the paper as T1406C. This is due to use of an alternative mRNA sequence for PLOD1: NM_000302.1. -
+/+ 12 c.1263dupT
    + c.1263dupT
- Insertion Frameshift p.(Leu422Serfs*44) - -MwoI, -BanII PLOD1_00038 P12 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ A personal communication from one of the authors reveals that the underlying cDNA-level variant is c.1255dup which implies that the published protein-level description of p.(Trp419Leufs*48) for the this patient is incorrect. Iraqi
+/+ 12 c.1302C>G
    + c.1302C>G
- Substitution Nonsense p.(Tyr434*) - +BfaI PLOD1_00002 EDS VI Kariminejad et al., 2010. Iran J Pediatr 20(3):358-362 DNA PCR, SEQ The patient is the first child of parents who are cousins once removed. This patient is the one reported by Giunta et al., 2009 as HM080082. Iranian
+/+ 12 c.1302C>G - Substitution Nonsense p.(Tyr434*) - +BfaI PLOD1_00002 - EDS VIA Giunta et al., 2009 DNA PCR, SEQ In Giunta et al., 2009, the reference sequence (NM_000302.2) has been incorrectly described as NM_000303.2. Only one variant has been reported for this patient. -
+/+ 13 c.1336T>G
    + c.1336T>G
- Substitution Missense p.(Trp446Gly) - - PLOD1_00013 1270 EDS VIA Walker et al., 2005 DNA, RNA PCR, RT-PCR, SEQ The patient is a daugther of consanguineous parents. The PLOD1 variant is incorrectly described as 1360T>G in Walker et al., 2005. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. Turkish
+/+ 13 c.1336T>G
    + c.1336T>G
- Substitution Missense p.(Trp446Gly) - - PLOD1_00013 - EDS VI Yiş et al., 2008 DNA PCR, SEQ The patient is the third child of consanguineous parents. The PLOD1 variant is incorrectly described as c.1360T>G by the authors. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession M98252. Turkish
+/+ 13 c.1362delC
    + c.975+975_1755+?dup
- Deletion Frameshift p.(Tyr455Thrfs*2) - - PLOD1_00007 P5 EDS VIA Giunta et al., 2005b DNA PCR, SEQ The paternal duplication variant was published by Heikkinen et al., 1997 (presumably as patient AB) whereas the maternal mutation remained undetectable at that time. The maternal variant is incorrectly described as c.1253delC in Giunta et al., 2005b. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The paternal variant is incorrectly described as c.1067_1846dup in Giunta et al., 2005b. The actual variant details have been confirmed with the authors. Bosnian
+/+ 13 c.1362delC
    + c.1362delC
- Deletion Frameshift p.(Tyr455Thrfs*2) - - PLOD1_00007 P7 EDS VIA Giunta et al., 2005b DNA PCR, SEQ The consanguinity of parents of the patient is unknown. The PLOD1 variant is incorrectly described as c.1144delC in Giunta et al., 2005b. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The actual variant details have been confirmed with the authors. Greek
+/+ 13 c.1362delC
    + c.1362delC
- Deletion Frameshift p.(Tyr455Thrfs*2) - - PLOD1_00007 - EDS VI Salvoura et al., 2006 DNA PCR, SEQ The patient's parents are probably related, although consanguinity was not mentioned. The protein effect is incorrect described in Salvoura et al., 2006 as p.Ile454fsX2. Albanian
+?/+? 13i c.(1470+1_1471-1)_(1650+1_1651-1)del
    + c.(1097+1_1098-1)_(1328+1_1329-1)del
- Deletion In-frame deletion p.Asp491_Thr550del - - PLOD1_00046 022001 EDS VIA France:Paris DNA CNGP The patient had a positive family history: her younger sister died at 9 years because of spontaneous abdominal aortic rupture. Urinary pyridinoline analysis showed a significantly increased lysyl-pyridinoline to hydroxylysyl-pyridinoline (LH/HP). Caucasian
+/+ 13i c.1471-1G>A
    + c.1471-1G>A
- Substitution Splice site - - -BssKI, -StyD4I PLOD1_00040 P3 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ The c.1471-1G>A variant is predicted to create a cryptic splice site in exon 14 resulting in an out-of-frame deletion of the first 55 bp of exon 14 and a premature stop codon in exon 17. Iranian
+/+ 14 c.1533C>G - Substitution Nonsense p.(Tyr511*) - +NheI, +Bfal PLOD1_00012 - EDS VI Pousi et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The maternally inherited exon-14 PTC mutation also results in abnormal splicing with exon 14 being commonly skipped. This results in deletion of 38-amino acid deletion. The mutation on the paternal allele and how it causes low-level expression is still not known. British
+/+ 14 c.1533C>G
    + c.1533C>G
- Substitution Nonsense p.(Tyr511*) - +NheI, +Bfal PLOD1_00012 1122 EDS VI Walker et al., 1999 DNA, RNA PCR, RT-PCR, SEQ The father's DNA was unavailable for analysis. The mother was 14 years old when the patient was born. Although there is a high likelihood of consanguinity, the father has not been unequivocally identified. The PLOD1 variant is incorrectly described in Walker et al., 1999 as 1557C>G. This is due to incorrect use of an alternative PLOD1 mRNA sequnece: GenBank accession no. M98252. This patient is described in Yeowell et al., 2000 and also in Yeowell et al., 2000 as cell line 1122. -
+/+ 14 c.1533C>G
    + c.1533C>G
- Substitution Nonsense p.(Tyr511*) - +NheI, +Bfal PLOD1_00012 1181 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 variant is incorrectly described as 1557C>G in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequnece: GenBank accession no. M98252. North American
+/+ 14 c.1533C>G
    + c.975+975_1755+?dup
- Substitution Nonsense p.(Tyr511*) - +NheI, +Bfal PLOD1_00012 790 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 substitution variant is incorrectly described as 1557C>G in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. North American
+/+ 14 c.1533C>G
    + c.579+1G>A
- Substitution Nonsense p.(Tyr511*) - +NheI, +Bfal PLOD1_00012 SF996 EDS VI Yeowell and Walker, 1997 DNA PCR, SEQ, Southern The paternally inherited variant is incorrectly described as c.1557C>G in Yeowell and Walker, 1997. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. The patient's unaffected younger sibling was one of the first individuals to have a prenatal assessment of EDS VI by mutational anaylsis. This is reported in Yeowell and Walker, 1999; the outcome of the assessment revealed the foetus had inherited the maternal allele containing the splice-site mutation and a normal non-mutated allele from the father. Although a carrier of this disease, the individual was born healthy. The patient is also described as cell line 996 by Yeowell et al., 2000. -
+/+ 14 c.1533C>G
    + c.1563G>A
- Substitution Nonsense p.(Tyr511*) - +NheI, +Bfal PLOD1_00012 CH1 EDS VIA Switzerland:Zurich DNA SEQ - Caucasian
+/+ 14 c.1563G>A
    + c.1533C>G
- Substitution Nonsense p.(Trp521*) - - PLOD1_00047 CH1 EDS VIA Switzerland:Zurich DNA SEQ - Caucasian
+/+ 15 c.1594_1596del
    + c.2032G>A
- Deletion In-frame deletion p.(Glu532del) - +MboII , -HpyAV PLOD1_00008 AT750 EDS VI Ha et al., 1994 RNA RT-PCR, SEQ The three-base deletion at positions 1618_1620 and the missense mutation at position 2056 are incorrectly described in Ha et al., 1994. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. The patient is also described in Yeowell et al., 1995 and again as cell line 750 in Yeowell et al., 2000. Mexican-American
-/- 15 c.1632A>C dbSNP Substitution Silent p.(=) - +EaeI,+BssKI PLOD1_00027 - - - DNA PCR, SEQ A study by Spotila et al., 2003 found an association between this SNP in the PLOD1 gene and bone mineral density in the lumbar spine and femoral neck among a population of European descent. The position of the SNP is incorrectly described in the paper as A1832C. This is due to use of an alternative mRNA sequence for the PLOD1 gene: NM_000302.1. -
+/+ 15i c.1651-2A>G
    + c.1651-2A>G
- Substitution Splice site p.(Pro551_Lys585del) - +BssKI, -BseYI PLOD1_00039 P6 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ - Dutch
+/+ 15i c.1651-2delA
    + c.1756-?_1902+?del
- Deletion Splice site p.(Pro551_Lys585del) - +MwoI, -BseYI PLOD1_00032 - EDS VI Pousi et al.,1998 DNA PCR, SEQ, Southern The parents of the patient are third-degree cousins but their consanguinity does not contribute to the disease of the patient. The patient has also been previously reported by Krieg et al.,1979. Another individual in the same family diagnosed with Ehlers-Danlos Syndrome Type VI is described by Ihme et al.,1984. German
+/+ 16 c.1677dupC
    + c.1677dupC
- Duplication Frameshift p.(Ile560Hisfs*8) - - PLOD1_00014 1072 EDS VI Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 variant has been incorrectly described as 1702insC in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. North American
+/+ 16i c.1756-?_1902+?del
    + c.1651-2delA
- Deletion Exon deletion p.(Asp586_Arg634del) - +EaeI, +Fnu4HI PLOD1_00033 - EDS VI Pousi et al.,1998 DNA PCR, SEQ, Southern The parents of the patient are third-degree cousins but their consanguinity does not contribute to the disease of the patient. The patient has also been previously reported by Krieg et al.,1979. Another individual in the same family diagnosed with Ehlers-Danlos Syndrome Type VI is described by Ihme et al.,1984. German
+/+ 16i c.1756-?_1902+?del
    + c.1756-?_1902+?del
- Deletion Exon deletion p.(Asp586_Arg634del) - +EaeI, +Fnu4HI PLOD1_00033 P7 EDS VIA Giunta et al., 2005a DNA PCR, Southern The parents of the patient are first cousins. The patient has also been previously described in Hilderink and Brunner, 1995. Dutch
+/+ 17 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G]
    + c.975+975_1755+?dup
- Other/Complex Frameshift p.[(Asn587Arg);Gly592Alafs*4;(Pro597Arg)] - +Hgal, -Bsll PLOD1_00023 HR EDS VI Heikkinen et al., 1997 DNA, RNA PCR, RT-PCR, SEQ - German
+/+ 17 c.1836G>C - Substitution Missense p.(Trp612Cys) - -Mwol PLOD1_00006 P2 (A.K.) EDS VIA Brinckmann et al., 1998 DNA, RNA PCR, RT-PCR, SEQ, SSCA P2 (A.K.) is a compound heterozygote patient; the mutated paternal allele is speculated to be a null allele as only cDNA could be analysed. The maternally inherited variant is incorrectly described as c.2036G>C in Brinckmann et al., 1998. -
+/+ 17 c.1863_1864dup
    + c.1863_1864dup
- Duplication Frameshift p.(Pro622Argfs*3) - - PLOD1_00042 EDS VIA Tosun et al., 2014 DNA PCR, SEQ The parents were cousins. -
+/+ 18 c.1999G>A
    + c.1999G>A
- Substitution Missense p.(Ala667Thr) - +HphI , -BtgZI PLOD1_00004 P8 EDS VIA Giunta et al., 2005b DNA PCR, SEQ The patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.1890G>A in Giunta et al., 2005b. The actual variant details has been confirmed with the authors. Italian
+/+ 18 c.2008C>T
    + c.975+975_1755+?dup
- Substitution Nonsense p.(Arg670*) - +DdeI, -Bsll PLOD1_00016 1200 EDS IV Yeowell et al., 2000 DNA, RNA PCR, RT-PCR, SEQ The PLOD1 substitution variant is incorrectly described as 2032C>T in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. A prenatal diagnosis on the patient's male sibling was carried out. This too is reported in Yeowell et al., 2000 and the outcome of the assessment revealed that the fetus had inherited the mutated paternal allele and a normal non-mutated allele from the mother. Although a carrier of this disease, the individual was born healthy. North American
+/+ 18 c.2025C>G
    + c.2025C>G
- Substitution Nonsense p.(Tyr675*) - - PLOD1_00044 Family 2 EDS VIA Abdalla et al., 2015 DNA PCR, SEQ The parents are first cousins. The premature stop codon in exon 18 does not trigger NMD. Egyptian
+/+ 19 c.2032G>A
    + c.1594_1596del
- Substitution Missense p.(Gly678Arg) - +AlwNI, -Faul PLOD1_00009 AT750 EDS VI Ha et al., 1994 RNA RT-PCR, SEQ The three-base deletion at positions 1618_1620 and the missense mutation at position 2056 are incorrectly described in Ha et al., 1994. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. The patient is also described in Yeowell et al., 1995 and again as cell line 750 in Yeowell et al., 2000. Mexican-American
+/+ 19 c.2032G>A
    + c.2032G>A
- Substitution Missense p.(Gly678Arg) - +AlwNI, -Faul PLOD1_00009 P7 EDS VI Rohrbach et al., 2011 DNA PCR, SEQ - Somalian
+/+ 19 c.2117A>G
    + c.2117A>G
- Substitution Missense p.(His706Arg) - +BstUI, +MluI PLOD1_00005 P9 EDS VIA Giunta et al., 2005b DNA PCR, SEQ P9 has a female sibling who is more severly affected and the consanguinity of their parents are unknown. The PLOD1 variant is incorrectly described as c.2008A>G in Giunta et al., 2005b. The actual variant details has been confirmed with the authors. French
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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.
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. PLOD1 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