LOVD - Variant listings for ADAMTS2

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+/+ 01 c.2T>C
    + c.884_887del
- Substitution Initiating methionine p.? - - - ADAMTS2_00008 AN_001995 Dermatosparaxis EDS Van Damme et al., 2016, Belgium:Ghent DNA PCR, SEQ - -
+/+ 03 c.535-?_688+?del
    + c.2085+1422_2458-478delinsTCC
- Deletion Exon deletion p.(Ala179Glyfs*17) - - - ADAMTS2_00005 P8 Dermatosparaxis EDS Colige et al., 2004 DNA PCR, SEQ This patient was subsequently described by Malfait et al., 2004. The exact boundaries of the maternal deletion were not determined. Caucasian
+/+ 03_05 c.535-?_975+?del
    + c.535-?_975+?del
- Deletion Multi-exon deletion p.(Ala179_Lys325del) - - - ADAMTS2_00003 P7 Dermatosparaxis EDS Colige et al., 2004 DNA PCR, SEQ This patient was subsequently described by Malfait et al., 2004. The exact boundaries of the deletion variant were not determined. Caucasian
+/+ 03 c.673C>T
    + c.673C>T
- Substitution Nonsense p.(Gln225*) - - - ADAMTS2_00002 Patient 6 Dermatosparaxis EDS Colige et al., 1999 DNA PCR, SEQ - Ashkenazi Jewish
+/+ 03 c.673C>T
    + c.673C>T
- Substitution Nonsense p.(Gln225*) - - - ADAMTS2_00002 Patient 2 Dermatosparaxis EDS Colige et al., 1999 DNA SEQ This patient was previously described by Smith et al., 1992. -
+/+ 03 c.673C>T
    + c.673C>T
- Substitution Nonsense p.(Gln225*) - - - ADAMTS2_00002 Patient 3 Dermatosparaxis EDS Colige et al., 1999 DNA SEQ This patient was previously described by Petty et al., 1993. -
+/+ 03 c.673C>T
    + c.673C>T
- Substitution Nonsense p.(Gln225*) - - - ADAMTS2_00002 Patient 4 Dermatosparaxis EDS Colige et al., 1999 DNA SEQ This patient was previously described by Fujimoto et al., 1997. Mexican
+/+ 03 c.673C>T
    + c.673C>T
- Substitution Nonsense p.(Gln225*) - - - ADAMTS2_00002 Patient 5 Dermatosparaxis EDS Colige et al., 1999 DNA SEQ This patient was previously described by Reardon et al., 1995. British
+/+ 03 c.673C>T
    + c.673C>T
- Substitution Nonsense p.(Gln225*) - - - ADAMTS2_00002 Dermatosparaxis EDS Bar-Yosef et al., 2008 DNA SEQ - Ashkenazi Jewish
+/+ 04 c.669_670dupG
    + c.669_670dupG
- Duplication Frameshift p.(Pro224Argfs*24) - - - ADAMTS2_00010 AN_001996 Dermatosparaxis EDS Van Damme et al., 2016, Belgium:Ghent DNA PCR, SEQ - -
+/+ 04 c.884_887del
    + c.2T>C
- Deletion Frameshift p.(Met295Thrfs*26) - - - ADAMTS2_00009 AN_001995 Dermatosparaxis EDS Van Damme et al., 2016, Belgium:Ghent DNA PCR, SEQ - -
+/+ 14_16 c.2085+1422_2458-478delinsTCC
    + c.535-?_688+?del
- Insertion/Deletion Multi-exon deletion - - - - ADAMTS2_00004 P8 Dermatosparaxis EDS Colige et al., 2004 DNA PCR, SEQ This patient was subsequently described by Malfait et al., 2004. The exact boundaries of the maternal deletion were not determined. Caucasian
+/+ 16 c.2384G>A
    + c.2384G>A
- Substitution Nonsense p.(Trp795*) - - - ADAMTS2_00001 Patient 1 Dermatosparaxis EDS Colige et al., 1999 DNA PCR, SEQ This patient was previously descibed by Nusgens et al., 1992 and subsequently by Malfait et al., 2004. Caucasian
+/+ 17 c.2458-6_2458del
    + c.2458-6_2458del
- Deletion Exon skip - - - - ADAMTS2_00006 Dermatosparaxis EDS Solomons et al., 2013 DNA PCR, SEQ The parents of this patient are first cousins with no family history of the disease. Pakistani
+/+ 19 c.2751-2A>T
    + c.2751-2A>T
- Substitution Splice site - - - - ADAMTS2_00011 AN_001997 Dermatosparaxis EDS Van Damme et al., 2016, Belgium:Ghent DNA PCR, SEQ - -
+/+ 19 c.2927_2928del
    + c.2927_2928del
- Deletion Frameshift p.(Pro976Argfs42*) - - - ADAMTS2_00007 AN_001994 Dermatosparaxis EDS Van Damme et al., 2016, Belgium:Ghent DNA PCR, SEQ - -
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Legend: [ ADAMTS2 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. ADAMTS2 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