Variant position: 615 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1464 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 HGPSFTIGKAIWLLWGLVFN NSVPVQNPKGTTSKIMVSVWA
Chimpanzee HGPSFTIGKAIWLLWGLVFN NSVPVQNPKGTTSKIMVSVWA
Mouse HGPSFTIGKAIWLLWGLVFN NSVPVQNPKGTTSKIMVSVWA
Rat HGPSFTIGKAIWLLWGLVFN NSVPVQNPKGTTSKIMVSVWA
Xenopus laevis HGPSFTIGKAVWLLWGLVFN NSVPVQNPKGTTSKIIVSIWA
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
23 – 1464 Glutamate receptor ionotropic, NMDA 2A
601 – 620 Discontinuously helical
599 – 620 Pore-forming
614 – 614 Functional determinant of NMDA receptors
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S.; Rosenberger G.; Geider K.; Popp B.; Tamer C.; Stefanova I.; Milh M.; Kortum F.; Fritsch A.; Pientka F.K.; Hellenbroich Y.; Kalscheuer V.M.; Kohlhase J.; Moog U.; Rappold G.; Rauch A.; Ropers H.H.; von Spiczak S.; Tonnies H.; Villeneuve N.; Villard L.; Zabel B.; Zenker M.; Laube B.; Reis A.; Wieczorek D.; Van Maldergem L.; Kutsche K.;
Nat. Genet. 42:1021-1026(2010)
Cited for: CHROMOSOMAL TRANSLOCATION; VARIANT FESD LYS-615; CHARACTERIZATION OF VARIANT FESD LYS-615;
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.