Sequence information
Variant position: 647 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 883 The length of the canonical sequence.
Location on the sequence:
WFFTLIIISSYTANLAAFLT
V ERMVSPIESAEDLSKQTEIA
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 WFFTLIIISSYTANLAAFLTV ERMVSPIESAEDLSKQTEIA
Mouse WFFTLIIISSYTANLAAFLTV ERMVSPIESAEDLSKQTEIA
Rat WFFTLIIISSYTANLAAFLTV ERMVSPIESAEDLSKQTEIA
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
25 – 883
Glutamate receptor 2
Topological domain
638 – 812
Extracellular
Literature citations
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V.; Dixon C.L.; Guo H.; Bello O.D.; Vandrovcova J.; Efthymiou S.; Maroofian R.; Heimer G.; Burglen L.; Valence S.; Torti E.; Hacke M.; Rankin J.; Tariq H.; Colin E.; Procaccio V.; Striano P.; Mankad K.; Lieb A.; Chen S.; Pisani L.; Bettencourt C.; Maennikkoe R.; Manole A.; Brusco A.; Grosso E.; Ferrero G.B.; Armstrong-Moron J.; Gueden S.; Bar-Yosef O.; Tzadok M.; Monaghan K.G.; Santiago-Sim T.; Person R.E.; Cho M.T.; Willaert R.; Yoo Y.; Chae J.H.; Quan Y.; Wu H.; Wang T.; Bernier R.A.; Xia K.; Blesson A.; Jain M.; Motazacker M.M.; Jaeger B.; Schneider A.L.; Boysen K.; Muir A.M.; Myers C.T.; Gavrilova R.H.; Gunderson L.; Schultz-Rogers L.; Klee E.W.; Dyment D.; Osmond M.; Parellada M.; Llorente C.; Gonzalez-Penas J.; Carracedo A.; Van Haeringen A.; Ruivenkamp C.; Nava C.; Heron D.; Nardello R.; Iacomino M.; Minetti C.; Skabar A.; Fabretto A.; Raspall-Chaure M.; Chez M.; Tsai A.; Fassi E.; Shinawi M.; Constantino J.N.; De Zorzi R.; Fortuna S.; Kok F.; Keren B.; Bonneau D.; Choi M.; Benzeev B.; Zara F.; Mefford H.C.; Scheffer I.E.; Clayton-Smith J.; Macaya A.; Rothman J.E.; Eichler E.E.; Kullmann D.M.; Houlden H.;
Nat. Commun. 10:3094-3094(2019)
Cited for: VARIANTS NEDLIB GLU-47; GLY-302; 323-ARG--ILE-883 DEL; 528-PRO--LYS-530 DEL; THR-528; GLU-607; ARG-609; ASN-611; SER-639; LEU-644; ASN-646; LEU-647; ASP-776; LEU-788; VAL-792; VAL-807 AND SER-812; INVOLVEMENT IN NEDLIB; CHARACTERIZATION OF VARIANTS NEDLIB GLU-47; GLY-302; GLU-607; ARG-609; SER-639; LEU-644 AND ASN-646; FUNCTION; SUBCELLULAR LOCATION;
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.