UniProtKB/SwissProt variant VAR

Variant information

Variant position:

486

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

Type of variant:

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:

From Arginine (R) to Glutamine (Q) at position 486 (R486Q, p.Arg486Gln).

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 large size and basic (R) to medium size and polar (Q)

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

Variant description:

In brachydactyly type C and BDA2; with also additional features of symphalangism-1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121434419 [ dbSNP | Ensembl ]

Sequence information

Variant position:

486

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

Protein sequence length:

502

The length of the canonical sequence.

Location on the sequence:

MGKLMTECWAHNPASRLTAL R VKKTLAKMSESQDIKL

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                         MGKLMTECWAHNPASRLTALRVKKTLAKMSESQDIKL

Mouse                         MGKLMTECWAQNPASRLTALRVKKTLAKMSESQDIKL

Chicken                       MGKLMMECWAHNPASRLTALRVKKTLAKMSESQDIKL

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
Chain	14 – 502	Bone morphogenetic protein receptor type-1B
Topological domain	149 – 502	Cytoplasmic
Domain	204 – 494	Protein kinase
Helix	484 – 496

Literature citations

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
Lehmann K.; Seemann P.; Boergermann J.; Morin G.; Reif S.; Knaus P.; Mundlos S.;
Eur. J. Hum. Genet. 14:1248-1254(2006)
Cited for: VARIANT BRACHYDACTYLY TYPE C/BDA2 GLN-486;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00238: Variant p.Arg486Gln