Variant position: 152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1030 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VHRDIKPENLLISHNDVLKL CDFGFARNLSEGNNANYTEYV
Mouse VHRDIKPENLLISHNDVLKL CDFGFARNLSEGNNANYTEYV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1030 Cyclin-dependent kinase-like 5
13 – 297 Protein kinase
135 – 135 Proton acceptor
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
Bertani I.; Rusconi L.; Bolognese F.; Forlani G.; Conca B.; De Monte L.; Badaracco G.; Landsberger N.; Kilstrup-Nielsen C.;
J. Biol. Chem. 281:32048-32056(2006)
Cited for: FUNCTION; AUTOPHOSPHORYLATION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS EIEE2 PHE-152 AND SER-175;
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
Tao J.; Van Esch H.; Hagedorn-Greiwe M.; Hoffmann K.; Moser B.; Raynaud M.; Sperner J.; Fryns J.-P.; Schwinger E.; Gecz J.; Ropers H.-H.; Kalscheuer V.M.;
Am. J. Hum. Genet. 75:1149-1154(2004)
Cited for: VARIANTS EIEE2 PHE-152 AND SER-175; VARIANT PRO-791;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.