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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22004: Variant p.Leu96Pro

Bone morphogenetic protein 6
Gene: BMP6
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Variant information Variant position: help 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Leucine (L) to Proline (P) at position 96 (L96P, p.Leu96Pro). 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: help 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: help -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
Variant description: help In IO; associated with disease susceptibility; some patients also carry a HFE variant; decreased function in positive regulation of SMAD protein signal transduction; results in partial activation of hepcidin expression; affects post-translational processing resulting in reduced amount of the mature form; results in impaired secretion. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 513 The length of the canonical sequence.
Location on the sequence: help KREMQKEILSVLGLPHRPRP L HGLQQPQPPALRQQEEQQQQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KREMQKEILSVLGLPHRPRPLHGLQQPQPPALR-QQEEQQQQ

Mouse                         KREMQKEILSVLGLPHRPRPLHGLQQPQPPVLPPQQQQQQQ

Rat                           KREMQKEILSVLGLPHRPRPLHGLQQPQSPVLP----QQQQ
Sequence annotation in neighborhood: help 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 21 – 374
Region 89 – 131 Disordered



Literature citations
Heterozygous Mutations in BMP6 pro-peptide lead to inappropriate hepcidin synthesis and moderate iron overload in humans.
Daher R.; Kannengiesser C.; Houamel D.; Lefebvre T.; Bardou-Jacquet E.; Ducrot N.; de Kerguenec C.; Jouanolle A.M.; Robreau A.M.; Oudin C.; Le Gac G.; Moulouel B.; Loustaud-Ratti V.; Bedossa P.; Valla D.; Gouya L.; Beaumont C.; Brissot P.; Puy H.; Karim Z.; Tchernitchko D.;
Gastroenterology 150:672.e4-683.e4(2016)
Cited for: VARIANTS IO SER-95; PRO-96 AND GLU-113; CHARACTERIZATION OF VARIANTS IO SER-95; PRO-96 AND GLU-113; INVOLVEMENT IN IO; FUNCTION; SUBCELLULAR LOCATION;
The p.Leu96Pro missense mutation in the BMP6 gene is repeatedly associated with hyperferritinemia in patients of French origin.
Le Gac G.; Gourlaouen I.; Ka C.; Ferec C.;
Gastroenterology 151:769-770(2016)
Cited for: VARIANT IO PRO-96;
Identification of new BMP6 pro-peptide mutations in patients with iron overload.
Piubelli C.; Castagna A.; Marchi G.; Rizzi M.; Busti F.; Badar S.; Marchetti M.; De Gobbi M.; Roetto A.; Xumerle L.; Suku E.; Giorgetti A.; Delledonne M.; Olivieri O.; Girelli D.;
Am. J. Hematol. 92:562-568(2017)
Cited for: VARIANTS IO PRO-96; GLN-112 AND HIS-257;
Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.
Borgel A.; Lamoril J.; Tchernitchko D.;
Clin. Res. Hepatol. Gastroenterol. 44:239-241(2020)
Cited for: VARIANTS IO PRO-96 AND GLU-113;
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.