UniProtKB/Swiss-Prot O95972: Variant p.Ala180Thr

Bone morphogenetic protein 15
Gene: BMP15
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Variant information Variant position:

180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Alanine (A) to Threonine (T) at position 180 (A180T, p.Ala180Thr). 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:

Change from small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Variant description:

In POF4; uncertain significance; no or minor deleterious effect detected. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs104894767 [ dbSNP | Ensembl ]

Sequence information Variant position:

180 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:

PTNHFPSSEGDSSKPSLMSN A WKEMDITQLVQQRFWNNKGH 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                         PTNHFPSSEGDSSKPSLMSNAWKEMDITQLVQQRFWNNKGH

Mouse                         RTKHLPSSKSGSSKPSPMSKAWTEIDITHCIQQKLWNRKGR

Bovine                        PTNHFPSSGRGSSKPSLLPKAWTEMDIMEHVGQKLWNHKGR

Sheep                         PTNHFPSSGRGSSKPSLLPKTWTEMDIMEHVGQKLWNHKGR

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
Propeptide	19 – 267

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; Missense mutations in the BMP15 gene are associated with ovarian failure.
Dixit H.; Rao L.K.; Padmalatha V.V.; Kanakavalli M.; Deenadayal M.; Gupta N.; Chakrabarty B.; Singh L.;
Hum. Genet. 119:408-415(2006)
Cited for: VARIANTS POF4 TRP-61; GLN-61; CYS-76; HIS-76; THR-180; LYS-196; HIS-206; ARG-221 AND VAL-243; VARIANTS SER-103; PHE-180 AND LEU-263 INS; 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;

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.