Variant position: 682 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1484 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 QVSGLSDKKFQRPNDFSPPF RFGTVPNGSTERNIRNNYAEM
Mouse QVSGLSDKKFQRPNDFSPPF RFGTVPNGSTERNIRNNYAEM
Rat QVSGLSDKKFQRPNDFSPPF RFGTVPNGSTERNIRNNYAEM
Xenopus laevis QVSGLSDKKFQRPNDFSPAF RFGTVPNGSTERNIRNNYLEM
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
27 – 1484 Glutamate receptor ionotropic, NMDA 2B
647 – 817 Extracellular
688 – 688 N-linked (GlcNAc...) asparagine
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 TRANSLOCATIONS; VARIANT MRD6 CYS-682; CHARACTERIZATION OF VARIANT MRD6 CYS-682;
Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains.
Swanger S.A.; Chen W.; Wells G.; Burger P.B.; Tankovic A.; Bhattacharya S.; Strong K.L.; Hu C.; Kusumoto H.; Zhang J.; Adams D.R.; Millichap J.J.; Petrovski S.; Traynelis S.F.; Yuan H.;
Am. J. Hum. Genet. 99:1261-1280(2016)
Cited for: VARIANTS MRD6 ARG-436; PHE-461 AND HIS-696; CHARACTERIZATION OF VARIANTS MRD6 GLY-413; ARG-436; TYR-456; PHE-461; CYS-682 AND HIS-696; CHARACTERIZATION OF VARIANT EIEE27 HIS-540;
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.