Guide to column names

Citation or Short Citation: A citation of the source of the sequence change data, if applicable.

Nucleotide change: The systematic name for the change being described in the entry in terms of the effect on the nucleotide sequence.

Amino acid change: The systematic name for the change being described in the entry in terms of the effect on the amino acid sequence.

Type of sequence change: Describes the type of sequence variation. Categories include:

Mutation / polymorphism: Asks whether the sequence variation described is likely to be a mutation (capable of causing a diseased phenotype), a polymorphism (not capable of causing a diseased phenotype) or a silent polymorphism (a variation in the coding sequence of the gene that does not change the protein and therefore can not have any deleterious effect). If a researcher does a search for polymorphisms the results will include polymorphisms and silent polymorphisms.

Domain change location: Describes the area(s) affected by the sequence variation. Categories include:

Additional sequence variation: Describes whether the patient had any other MECP2 sequence variations, and if so, whether the variation was on the same allele (cis) or the other allele (trans).

Phenotype classification: Description of the phenotype of the person.

Possible variants recognised in Rett syndrome are:

Possible phenotypes for individuals who do not have Rett syndrome are:

Evidence for pathogenicity: If the researcher has been able to determine whether a variation is a mutation or polymorphism, their reasoning is briefly described here.

Sporadic or familial: Describes if only one person in the family has an abnormal phenotype.

Sex: The gender of the person with the sequence change.

X-inactivation ratio: Describes the X-inactivation ratio of the person if it has been measured.

X-inactivation ratio of relatives: Describes the X-inactivation ratios in relatives of the person if they have been measured.

Carrier status of family: Describes if family members were screened for the sequence variation found in the proband, and if so, what the results were.

Detection method: The sequence analysis method used to screen for sequence variations.

Extent of coding region screened: Describes which parts of the gene were screened for the sequence change.

Source of DNA: The tissue from which the DNA sample was extracted.

Entry ID: A record number for the entry in the database.

Patient ID (from cited work): This is the ID number allocated to this patient in the published paper. This column can not be used as a search parameter.