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The ADAMTS2 mutation data have been added to a new database.

LOVD - Variant listings for ADAMTS2

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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7 entries
entries per page

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

Frequency Hide Frequency column Descending

DB-ID Hide DB-ID column Descending
01 c.102_123dup - Duplication Frameshift p.Ala42Argfs*31 - - - ADAMTS2_00018
02 c.220G>A dbSNP Substitution Missense p.Val74Met - - - ADAMTS2_00014
3i c.688+25836T>C dbSNP Substitution Other - - - - ADAMTS2_00013
3i c.688+28769dup - Duplication Splice site - - - - ADAMTS2_00012
3i c.689-28692T>G dbSNP Substitution Other - - - - ADAMTS2_00016
20 c.3028G>A dbSNP Substitution Missense p.Gly1010Ser - - - ADAMTS2_00015
21 c.3155C>A - Substitution Nonsense p.Ser1052* - - - ADAMTS2_00017
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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.
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.