LOVD - Variant listings for PPIB

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+/+ 01 c.25A>G
    + c.509G>A
- Substitution Missense p.(Met9Val) - - PPIB_00016 III-2 OI IX Jiang et al., 2017 DNA PCR, SEQ, WES - Chinese
+/+ 01 c.25A>G
    + c.25A>G
- Substitution Missense p.(Met9Val) - - PPIB_00016 No. 1011 OI III Caparros-Martin et al., 2016 DNA PCR, SEQ - Egyptian
+/+ 01 c.26T>G
    + c.26T>G
- Substitution Missense p.(Met9Arg) - NlaIII - PPIB_00011 Patient III-4 OI Barnes et al., 2010 DNA PCR, SEQ The position of the true start codon of PPIB is unclear. The GenBank reference sequence lists Met at positions 1 and 9, but neither is confirmed as the start codon. Met1 is conserved in many higher eukaryotes but full conservation begins at Met9. The authors present Met9 as the start codon, as a homozygous T>G substitution at this position leads to decreased transcripts and absence of protein. These issues are further discussed by van Dijk et al., 2010 with a reply by the original authors. The patient's elder sibling is also homozygous for the same variant. A subsequent clinical report of the proband is presented by Drefus et al., 2015. Senegalese
?/- 01 c.63C>A dbSNP Substitution Silent p.(=) - - PPIB_00010 - - dbSNP Unknown Unknown - -
-/- 01 c.63C>A
    + c.344-27C>T
dbSNP Substitution Silent p.(Ser21=) - - PPIB_00010 P6 OI I Barbirato et al., 2015 DNA PCR, SEQ, SSCA The c.344-27C>T variant was absent in 100 control samples. The c.63C>A variant has been found in OI patients and in normal controls. -
+/+ 01 c.120delC
    + c.313G>A
- Deletion Frameshift p.(Val42Serfs*16) - - PPIB_00004 P2 (II-4) OI II Pyott et al., 2011, United States:Seattle DNA PCR, SEQ The deletion (maternal allele) leads to NMD of the mRNA and the substitution (paternal allele) destabilises the protein. -
?/- 02 c.178G>T dbSNP Substitution Missense p.(Val60Leu) - - PPIB_00009 - - dbSNP Unknown Unknown - -
+/+ 02 c.313G>A
    + c.120delC
- Substitution Missense p.(Gly105Arg) - - PPIB_00005 P2 (II-4) OI II Pyott et al., 2011, United States:Seattle DNA PCR, SEQ The deletion (maternal allele) leads to NMD of the mRNA and the substitution (paternal allele) destabilises the protein. -
+/+ 03 c.302T>A
    + c.302T>A
- Substitution Missense p.(Met101Lys) - - PPIB_00014 Patient 1 OI III Stephen et al., 2015 DNA PCR, SEQ The parents are consanguineous and confirmed to be heterozygous for the variant. Indian
?/- 03 c.324C>T dbSNP Substitution Silent p.(=) - - PPIB_00008 - - dbSNP Unknown Unknown - -
+/+ 03i c.343+1G>A
    + c.343+1G>A
- Substitution Splice site - - - PPIB_00006 P3 (II-3) OI III/IV Pyott et al., 2011, United States:Seattle DNA PCR, SEQ The variant leads to retention of 27 bases of intron 3 in the stable RNA and also to exon 3 skipping (unstable). Vietnamese
-?/- 03i c.344-27C>T
    + c.63C>A
- Substitution Other - - - PPIB_00015 P6 OI I Barbirato et al., 2015 DNA PCR, SEQ, SSCA The c.344-27C>T variant was absent in 100 control samples. The c.63C>A variant has been found in OI patients and in normal controls. -
+/+ 04 c.414_423del
    + c.414_423del
- Deletion Frameshift p.(Ser139Thrfs*21) - - PPIB_00003 P1 (II-3) OI Pyott et al., 2011, United States:Seattle DNA PCR, SEQ The patient had a very samll chest and died at the age of 4 months form respiratory failure and pneumonia. Mexican
+/+ 04 c.451C>T
    + c.451C>T
- Substitution Nonsense p.(Gln151*) - - PPIB_00001 Family 2 OI III Van Dijk et al., 2009 DNA PCR, SEQ - Pakistani
?/- 04 c.492C>G dbSNP Substitution Silent p.(=) - - PPIB_00007 - - dbSNP Unknown Unknown - -
+/+ 04 c.497A>C
    + c.497A>C
- Substitution Missense p.(His166Pro) - - PPIB_00013 AN_002114 OI III Caparrós-Martin et al., 2013, Spain:Madrid DNA SEQ Family 4 Egyptian
+/+ 04 c.509G>A
    + c.25A>G
- Substitution Missense p.(Gly170Asp) - - PPIB_00017 III-2 OI IX Jiang et al., 2017 DNA PCR, SEQ, WES - Chinese
+/+ 05 c.556_559del
    + c.556_559del
- Deletion Frameshift p.(Lys186Glnfs*8) - - PPIB_00002 Family 1 OI IIB van Dijk et al., 2009 DNA PCR, SEQ This case was subsequently presented in Figure 5A of van Dijk et al., 2011 North European
+?/+ 05 c.563_566del
    + c.563_566del
- Deletion Nonsense p.(Asp188Alafs*6) - - PPIB_00012 AN_002002 OI IX Barnes et al., 2012, United States:Bethesda DNA PCR, SEQ This family had two affected children with lethal OI whose father is "Proband 2". Palestinian
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Legend: [ PPIB 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. PPIB 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