Variant position: 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 133 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 SKLKALRLRCSGGMRLTATY RYILSCHCEECNS
Mouse SKLKALRLRCSGGMRLTATY RYILSCHCEECSS
Bovine SKLKALRLRCSGGMRLTATY RYILSCHCEECSS
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.
Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.
Perez-Vilar J.; Hill R.L.;
J. Biol. Chem. 272:33410-33415(1997)
Cited for: SUBCELLULAR LOCATION; OLIGOMERIZATION; MUTAGENESIS OF CYS-95; CHARACTERIZATION OF VARIANTS ND GLU-60 AND GLN-121;
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
Fuentes J.J.; Volpini V.; Fernandez-Toral F.; Coto E.; Estivill X.;
Hum. Mol. Genet. 2:1953-1955(1993)
Cited for: VARIANTS ND ASN-58 AND GLN-121;
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
Meindl A.; Lorenz B.; Achatz H.; Hellebrand H.; Schmitz-Valckenberg P.; Meitinger T.;
Hum. Mol. Genet. 4:489-490(1995)
Cited for: VARIANTS ND GLN-104; TRP-121 AND GLN-121;
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Riveiro-Alvarez R.; Trujillo-Tiebas M.J.; Gimenez-Pardo A.; Garcia-Hoyos M.; Cantalapiedra D.; Lorda-Sanchez I.; Rodriguez de Alba M.; Ramos C.; Ayuso C.;
Mol. Vis. 11:705-712(2005)
Cited for: VARIANTS EVR2 CYS-38 AND GLN-121;
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