UniProtKB/Swiss-Prot P23945: Variant p.Pro519Thr

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

Variant position:  519
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 Proline (P) to Threonine (T) at position 519 (P519T, p.Pro519Thr).
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 medium size and hydrophobic (P) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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; totally impairs adenylate cyclase stimulation in vitro; alters the cell surface targeting of the receptor which remains trapped intracellularly.
Any additional useful information about the variant.



Sequence information

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:   AAALFPIFGISSYMKVSICL  P MDIDSPLSQLYVMSLLVLNV
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                         AAALFPIFGISSYMKVSICLPMDIDSPLSQLYVMSLLVLNV

Mouse                         AAALFPIFGISSYMKVSICLPMDIDSPLSQLYVMALLVLNA

Rat                           AAALFPIFGISSYMKVSICLPMDIDSPLSQLYVMALLVLNV

Pig                           TVALFPIFGISSYMKVSICLPMDIDSPLSQLYVVSLLVLNV

Bovine                        AVALFPIFGISSYMKVSICLPMDIDSPLSQLYVMSLLVLNV

Sheep                         AVALFPIFGISSYMKVSICLPMDIDSPLSQLYVMSLLVLNV

Cat                           MVALFPIFGISSYMKVSICLPMDIDSPLSQLYVMSLLVLNV

Horse                         AVALLPIFGISTYMKVSICLPMDIDSPLSQLYVMSLLVLNV

Chicken                       TVALLPIFGISSYMKVSICLPMHIETPFSQAYVIFLLVLNV

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 509 – 528 Extracellular


Literature citations

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;

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.