Variant position: 305 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 473 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 TMTTINTHLRETLPKIPYVK AIDMYLMGCFVFVFLALLEYA
Mouse TMTTINTHLRETLPKIPYVK AIDMYLMGCFVFVFLALLEYA
Rat TMTTINTHLRETLPKIPYVK AIDMYLMGCFVFVFLALLEYA
Chicken TMTTINTHLRETLPKIPYVK AIDMYLMGCFVFVFLALLEYA
Drosophila TMTTISTGVRSSLPRISYVK AIDIYLVMCFVFVFAALLEYA
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
26 – 473 Gamma-aminobutyric acid receptor subunit beta-3
305 – 327 Helical
290 – 311 Allosteric effector binding
305 – 330
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies.
Am. J. Hum. Genet. 99:287-298(2016)
Cited for: INVOLVEMENT IN EIEE43; VARIANTS EIEE43 ASN-120; MET-157; PHE-182; LYS-249; GLN-256; HIS-293 AND THR-305;
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.