Variant position: 933 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 SRMDSPKRAADFIQRGSLIM DMVSDKGNLMYSDNRSFQGKE
Chimpanzee SRMDSPKRAADFIQRGSLIM DMVSDKGNLMYSDNRSFQGKE
Mouse SRMDSPKRAADFIQRGSLIV DMVSDKGNLIYSDNRSFQGKD
Rat SRMDSPKRATDFIQRGSLIV DMVSDKGNLIYSDNRSFQGKD
Xenopus laevis SQCNSPKRTSDYIQRNSLLT DMVLDKGNLTYSDNRPFQQKD
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
838 – 1464 Cytoplasmic
929 – 929 Phosphoserine
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Lesca G.; Rudolf G.; Bruneau N.; Lozovaya N.; Labalme A.; Boutry-Kryza N.; Salmi M.; Tsintsadze T.; Addis L.; Motte J.; Wright S.; Tsintsadze V.; Michel A.; Doummar D.; Lascelles K.; Strug L.; Waters P.; de Bellescize J.; Vrielynck P.; de Saint Martin A.; Ville D.; Ryvlin P.; Arzimanoglou A.; Hirsch E.; Vincent A.; Pal D.; Burnashev N.; Sanlaville D.; Szepetowski P.;
Nat. Genet. 45:1061-1066(2013)
Cited for: VARIANTS FESD SER-184; SER-295; ARG-483; TRP-504; HIS-518; THR-548; VAL-652; ASN-669; THR-694; THR-716; ASN-731; ASN-933 AND ASN-1251; VARIANT GLY-1276; CHARACTERIZATION OF VARIANTS FESD HIS-518 AND VAL-652;
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.