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
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
656 – 817 Extracellular
688 – 688 N-linked (GlcNAc...)
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;
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