Variant position: 480 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 530 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 IMGCYILGNPNGEKLFQNLR TLMTPYRVTFESPLELSAQGK
Mouse IMGCYILGNPNGEKLFQNLR TLMTPYKVTFESPLELSAQGK
Rat IMGCYILGNPNGEKLFQNLR TLMTPYKVTFESPLELSAQGK
Zebrafish IMGCYVLGNANGEKLFQNLK RLMKPHGIEFKSPLELSAQGK
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
2 – 530 NMDA receptor synaptonuclear signaling and neuronal migration factor
403 – 530 Missing. In isoform 5.
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
Miura K.; Acierno J.S. Jr.; Seminara S.B.;
J. Hum. Genet. 49:265-268(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5); TISSUE SPECIFICITY; VARIANT HH9 ALA-480;
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Tornberg J.; Sykiotis G.P.; Keefe K.; Plummer L.; Hoang X.; Hall J.E.; Quinton R.; Seminara S.B.; Hughes V.; Van Vliet G.; Van Uum S.; Crowley W.F.; Habuchi H.; Kimata K.; Pitteloud N.; Bulow H.E.;
Proc. Natl. Acad. Sci. U.S.A. 108:11524-11529(2011)
Cited for: VARIANT HH9 ALA-480;
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.