Variant position: 545 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 PLSQLYVMSLLVLNVLAFVV ICGCYIHIYLTVRNPNIVSSS
Mouse PLSQLYVMALLVLNALAFVV ICGCYTHIYLTVRNPNIVSSS
Rat PLSQLYVMALLVLNVLAFVV ICGCYTHIYLTVRNPTIVSSS
Pig PLSQLYVVSLLVLNVLAFVV ICGCYTHIYLTVRNPNIMSSS
Bovine PLSQLYVMSLLVLNVLAFVV ICGCYTHIYLTVRNPNITSSS
Sheep PLSQLYVMSLLVLNVLAFVV ICGCYTHIYLTVRNPNITSSS
Cat PLSQLYVMSLLVLNVLAFVV ICCCYAHIYLTVRNPNIVSSS
Horse PLSQLYVMSLLVLNVLAFVV ICGCYIHIYLTVRNPNIVSSS
Chicken PFSQAYVIFLLVLNVLAFVI ICICYICIYFTVRNPNVISSN
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
529 – 550 Helical; Name=5;
Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.
De Leener A.; Montanelli L.; Van Durme J.; Chae H.; Smits G.; Vassart G.; Costagliola S.;
J. Clin. Endocrinol. Metab. 91:555-562(2006)
Cited for: VARIANT OHSS THR-545; CHARACTERIZATION OF VARIANT OHSS THR-545;
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.