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UniProtKB/Swiss-Prot O95972: Variant p.Leu148Pro

Bone morphogenetic protein 15
Gene: BMP15
Variant information

Variant position:  148
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 implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Proline (P) at position 148 (L148P, p.Leu148Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Premature ovarian failure 4 (POF4) [MIM:300510]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:16464940, ECO:0000269|PubMed:16508750, ECO:0000269|PubMed:16645022, ECO:0000269|PubMed:19263482, ECO:0000269|PubMed:19438907}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  148
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:   YQLVRATVVYRHHLQLTRFN  L SCHVEPWVQKNPTNHFPSSE
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                         YQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNPTNHFPSSE

Mouse                         YELIRATVVYRHQLHLVNYHLSCHVETWVPKCRTKHLPSSK

Bovine                        YQLVRATVVYRHQLHLTHSHLSCHVEPWVQKSPTNHFPSSG

Sheep                         YQLVRATVVYRHQLHLTHSHLSCHVEPWVQKSPTNHFPSSG

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
Propeptide 19 – 267
Glycosylation 147 – 147 N-linked (GlcNAc...) asparagine


Literature citations

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.
Laissue P.; Christin-Maitre S.; Touraine P.; Kuttenn F.; Ritvos O.; Aittomaki K.; Bourcigaux N.; Jacquesson L.; Bouchard P.; Frydman R.; Dewailly D.; Reyss A.-C.; Jeffery L.; Bachelot A.; Massin N.; Fellous M.; Veitia R.A.;
Eur. J. Endocrinol. 154:739-744(2006)
Cited for: VARIANTS POF4 PRO-148 AND THR-180; 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;

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.