Variant position: 601 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 DFLCMAPISFFAISASLKVP LITVSKAKILLVLFHPINSCA
Mouse DFLCMAPILFFAISASLKVP LITVSKAKILLVLFYPINSCA
Rat DFLCMAPISFFAISASLKVP LITVSKAKILLVLFYPINSCA
Pig DFLCMAPISFFAISASLKVP LITVSKSKILLVLFYPINSCA
Bovine DFLCMAPISFFAISASLKVP LITVSKSKILLVLFYPINSCA
Sheep DFLCMAPISFFAISASLKVP LITVSKSKILLVLFYPINSCA
Cat DFLCMAPISFFAISASLKVP LITVSKSKILLVLFYPINSCA
Horse DFLCMAPISFFAISASLKVP LITVSKSKILLVLFYPINSCA
Chicken DFLCMAPISFFAISASLRVP LITVSKSKILLVLFYPINSCA
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
598 – 608 Extracellular
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.