UniProtKB/Swiss-Prot P23945: Variant p.Arg573Cys

Follicle-stimulating hormone receptor
Gene: FSHR
Chromosomal location: 2p16-p21
Variant information

Variant position:  573
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Arginine (R) to Cysteine (C) at position 573 (R573C, p.Arg573Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity.
Any additional useful information about the variant.



Sequence information

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:   YLTVRNPNIVSSSSDTRIAK  R MAMLIFTDFLCMAPISFFAI
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                         YLTVRNPNIVSSSSDTRIAKRMAMLIFTDFLCMAPISFFAI

Mouse                         YLTVRNPNIVSSSRDTKIAKRMATLIFTDFLCMAPILFFAI

Rat                           YLTVRNPTIVSSSSDTKIAKRMATLIFTDFLCMAPISFFAI

Pig                           YLTVRNPNIMSSSSDTKIAKRMAMLIFTDFLCMAPISFFAI

Bovine                        YLTVRNPNITSSSSDTKIAKRMAMLIFTDFLCMAPISFFAI

Sheep                         YLTVRNPNITSSSSDTKIAKRMAMLIFTDFLCMAPISFFAI

Cat                           YLTVRNPNIVSSSSDTKIAKRMAMLIFTDFLCMAPISFFAI

Horse                         YLTVRNPNIVSSSSDTKIAKRMAILIFTDFLCMAPISFFAI

Chicken                       YFTVRNPNVISSNSDTKIAKRMAILIFTDFLCMAPISFFAI

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.

TypePositionsDescription
Chain 18 – 695 Follicle-stimulating hormone receptor
Topological domain 551 – 573 Cytoplasmic


Literature citations

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;

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.