Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 392 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 LLEESPGEQPRK-PRLLGHSL RYMLELYRRSADSHGHPRENR
Mouse LAKEAPGKEMKQWPQ--GYPL RYMLKLYHRSADPHGHPREN
Bovine LLEEAPGKQQRK-PRILGHPL RYMLELYQRSADASGHPREN
Sheep LLEEAPGKQQRK-PRVLGHPL RYMLELYQRSADASGHPREN
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
19 – 267
87 – 87 N-linked (GlcNAc...) asparagine
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.
Di Pasquale E.; Rossetti R.; Marozzi A.; Bodega B.; Borgato S.; Cavallo L.; Einaudi S.; Radetti G.; Russo G.; Sacco M.; Wasniewska M.; Cole T.; Beck-Peccoz P.; Nelson L.M.; Persani L.;
J. Clin. Endocrinol. Metab. 91:1976-1979(2006)
Cited for: VARIANTS POF4 TRP-68; THR-180 AND CYS-235; VARIANT LEU-263 INS;
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.
Rossetti R.; Di Pasquale E.; Marozzi A.; Bione S.; Toniolo D.; Grammatico P.; Nelson L.M.; Beck-Peccoz P.; Persani L.;
Hum. Mutat. 30:804-810(2009)
Cited for: VARIANTS POF4 TRP-68; HIS-138; PRO-148 AND THR-180; VARIANTS ARG-5 AND LEU-263 INS; CHARACTERIZATION OF VARIANTS POF4 TRP-68; HIS-138; PRO-148 AND THR-180; CHARACTERIZATION OF VARIANTS ARG-5 AND LEU-263 INS;
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.