Sequence information
Variant position: 327 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 443 The length of the canonical sequence.
Location on the sequence:
LPDPSHHGLHSTPDSPAKPE
K NGHAKDHPKIAKIFEIQTMP
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 LPDPSHHGLHSTPDSPAKPEK NGHAKD-HPKIAKIFEIQTMP
LPDPSHHGLHSTADSPAKPEK NGHAKD-HPKIAKIFEIQSM
Chimpanzee LPDPSHHGLHSTPDSPAKPEK NGHAKD-HPKIAKIFEIQTM
Mouse LPDPSHHGLHSNPDSPAKPEK NGHAKIVNPRIAKFFEIQTM
Rat LPDPSHHGLHSNPDSPAKPEK NGHAKIVNPRIAKFFEIQTM
Bovine LPDPSHHGLHSTPDSPAKPEK NGHAKTVNPKIAKIFEIQSM
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
Chain
1 – 443
D(2) dopamine receptor
Topological domain
214 – 373
Cytoplasmic
Region
211 – 373
Interaction with PPP1R9B
Region
281 – 332
Disordered
Literature citations
A population-specific HTR2B stop codon predisposes to severe impulsivity.
Bevilacqua L.; Doly S.; Kaprio J.; Yuan Q.; Tikkanen R.; Paunio T.; Zhou Z.; Wedenoja J.; Maroteaux L.; Diaz S.; Belmer A.; Hodgkinson C.A.; Dell'osso L.; Suvisaari J.; Coccaro E.; Rose R.J.; Peltonen L.; Virkkunen M.; Goldman D.;
Nature 468:1061-1066(2010)
Cited for: VARIANT GLU-327;
Disclaimer:
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.