Variant position: 573 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 YLTVRNPNIVSSSSDTRIAK RMAMLIFTDFLCMAPISFFAI
Mouse YLTVRNPNIVSSSRDTKIAK RMATLIFTDFLCMAPILFFAI
Rat YLTVRNPTIVSSSSDTKIAK RMATLIFTDFLCMAPISFFAI
Pig YLTVRNPNIMSSSSDTKIAK RMAMLIFTDFLCMAPISFFAI
Bovine YLTVRNPNITSSSSDTKIAK RMAMLIFTDFLCMAPISFFAI
Sheep YLTVRNPNITSSSSDTKIAK RMAMLIFTDFLCMAPISFFAI
Cat YLTVRNPNIVSSSSDTKIAK RMAMLIFTDFLCMAPISFFAI
Horse YLTVRNPNIVSSSSDTKIAK RMAILIFTDFLCMAPISFFAI
Chicken YFTVRNPNVISSNSDTKIAK RMAILIFTDFLCMAPISFFAI
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
551 – 573 Cytoplasmic
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.
Beau I.; Touraine P.; Meduri G.; Gougeon A.; Desroches A.; Matuchansky C.; Milgrom E.; Kuttenn F.; Misrahi M.;
J. Clin. Invest. 102:1352-1359(1998)
Cited for: VARIANTS ODG1 THR-160 AND CYS-573;
New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.
Touraine P.; Beau I.; Gougeon A.; Meduri G.; Desroches A.; Pichard C.; Detoeuf M.; Paniel B.; Prieur M.; Zorn J.-R.; Milgrom E.; Kuttenn F.; Misrahi M.;
Mol. Endocrinol. 13:1844-1854(1999)
Cited for: VARIANTS ODG1 VAL-224 AND VAL-601; CHARACTERIZATION OF VARIANTS ODG1 VAL-224; CYS-573 AND VAL-601;
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.