Variant position: 519 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 695 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 AAALFPIFGISSYMKVSICL PMDIDSPLSQLYVMSLLVLNV
Mouse AAALFPIFGISSYMKVSICL PMDIDSPLSQLYVMALLVLNA
Rat AAALFPIFGISSYMKVSICL PMDIDSPLSQLYVMALLVLNV
Pig TVALFPIFGISSYMKVSICL PMDIDSPLSQLYVVSLLVLNV
Bovine AVALFPIFGISSYMKVSICL PMDIDSPLSQLYVMSLLVLNV
Sheep AVALFPIFGISSYMKVSICL PMDIDSPLSQLYVMSLLVLNV
Cat MVALFPIFGISSYMKVSICL PMDIDSPLSQLYVMSLLVLNV
Horse AVALLPIFGISTYMKVSICL PMDIDSPLSQLYVMSLLVLNV
Chicken TVALLPIFGISSYMKVSICL PMHIETPFSQAYVIFLLVLNV
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
18 – 695 Follicle-stimulating hormone receptor
509 – 528 Extracellular
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies.
Meduri G.; Touraine P.; Beau I.; Lahuna O.; Desroches A.; Vacher-Lavenu M.C.; Kuttenn F.; Misrahi M.;
J. Clin. Endocrinol. Metab. 88:3491-3498(2003)
Cited for: VARIANT ODG1 THR-519; CHARACTERIZATION OF VARIANT ODG1 THR-519;
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.