Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
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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 , Hum.Mut. 15:7-12); for a summary see Nomenclature.
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. Location: Variant location at DNA level. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Protein: Variation at protein level. Type: Type of variant at DNA level. Reference(s): Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Grantham Score: Scores chemical differences between amino acids PolyPhen: predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations SIFT: predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. Domain: Amino acid is part of this domain Variant remarks: Variant remarks arvcdatabase.info: Link to details page at www.arvcdatabase.info TMEM43 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation Controls: found in control chromosomes e.g. 0/100 # Reported: Number of times this case has been reported