CDKL5 Proband Entry



Entry ID: cp363

Systematic name: c.1330C>T

Protein name: p.Arg444Cys

Alternate name(s): p.R444C

Mutation type: missense

Domain: not specified

Pathogenicity class: benign variant

Gender: Unknown

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Not known

Method of testing: HRM, DHPLC, MECP2 negative

Source of DNA: blood

Familial testing: inherited from unaffected mother

Familial X-inactivation: carrier mother random XCI

Control screening: No

dbSNP ID: rs61753977

Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:15:03

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1330C>T p.Arg444Cys Rett syndrome - not certain Female 16015284 Evans et al (2005) cp32
c.1330C>T p.Arg444Cys Not known - unaffected family member Male 16015284 Evans et al (2005) cp33
c.1330C>T p.Arg444Cys Not known - unaffected family member Female 23064044 Raymond et al (2013) cp364

Displaying a total number of 3 proband entries.