UniProtKB/Swiss-Prot P61769: Variant p.Ala11Pro

Beta-2-microglobulin
Gene: B2M
Chromosomal location: 15q21-q22.2
Variant information

Variant position:  11
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Alanine (A) to Proline (P) at position 11 (A11P, p.Ala11Pro).
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 hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  Immunodeficiency 43 (IMD43) [MIM:241600]: A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease. {ECO:0000269|PubMed:16549777}. 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 IMD43; lower levels of B2M, MHC class I and FCGRT proteins.
Any additional useful information about the variant.

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



Sequence information

Variant position:  11
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  119
The length of the canonical sequence.

Location on the sequence:   MSRSVALAVL  A LLSLSGLEAIQRTPKIQVYS
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                         MSRSVALAVLALLSLSGLEAIQRTPKIQVYS

Gorilla                       MSRSVALAVLALLSLSGLEAIQRTPKIQVYS

Rhesus macaque                MSRSVALAVLALLSLSGLEAIQRTPKIQVYS

Chimpanzee                    MSRSVALAVLALLSLSGLEAIQRTPKIQVYS

Mouse                         MARSVTLVFLVLVSLTGLYAIQKTPQIQVYS

Rat                           MARSVTVIFLVLVSLAVVLAIQKTPQIQVYS

Pig                           MAPLVALVLLGLLSLSGLDAVARPPKVQVYS

Bovine                        MARFVALVLLGLLSLSGLDAIQRPPKIQVYS

Rabbit                        --------------------VQRAPNVQVYS

Sheep                         MAVSAALVLLGLLSLSGLDAIQRIPEVQVYS

Cat                           MARFVVLVLLGLLYLSHLDAVQHSPKVQVYS

Horse                         MARVVALVLLGLLSLTGLEAVPRVPKVQVYS

Chicken                       MGKAAAVVLVTLVALLGLAQADLTPKVQVYS

Xenopus laevis                --MKIALVLLSLLALTLAESNISPPVVKVYT

Zebrafish                     MRALITFALLCLLYIT-VQGKVSTPKVHVYS

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
Signal peptide 1 – 20
Modified residue 22 – 22 Pyrrolidone carboxylic acid; in form pI 5.3
Glycosylation 21 – 21 N-linked (Glc) (glycation); in hemodialysis-associated amyloidosis


Literature citations

Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.
Wani M.A.; Haynes L.D.; Kim J.; Bronson C.L.; Chaudhury C.; Mohanty S.; Waldmann T.A.; Robinson J.M.; Anderson C.L.;
Proc. Natl. Acad. Sci. U.S.A. 103:5084-5089(2006)
Cited for: VARIANT IMD43 PRO-11; CHARACTERIZATION OF VARIANT IMD43 PRO-11;

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.