Variant position: 512 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 MGWIFAFAAALFPIFGISSY MKVSICLPMDIDSPLSQLYVM
Mouse LGWAFAFAAALFPIFGISSY MKVSICLPMDIDSPLSQLYVM
Rat LGWTFAFAAALFPIFGISSY MKVSICLPMDIDSPLSQLYVM
Pig VGWIFAFTVALFPIFGISSY MKVSICLPMDIDSPLSQLYVV
Bovine VGWIFAFAVALFPIFGISSY MKVSICLPMDIDSPLSQLYVM
Sheep VGWVFAFAVALFPIFGISSY MKVSICLPMDIDSPLSQLYVM
Cat LGWIFAFMVALFPIFGISSY MKVSICLPMDIDSPLSQLYVM
Horse VGWIFAFAVALLPIFGISTY MKVSICLPMDIDSPLSQLYVM
Chicken FGWMFAFTVALLPIFGISSY MKVSICLPMHIETPFSQAYVI
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
442 – 517
Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome.
Uchida S.; Uchida H.; Maruyama T.; Kajitani T.; Oda H.; Miyazaki K.; Kagami M.; Yoshimura Y.;
PLoS ONE 8:E75478-E75478(2013)
Cited for: VARIANT OHSS ILE-512; CHARACTERIZATION OF VARIANT OHSS ILE-512; FUNCTION;
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.