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UniProtKB/Swiss-Prot Q16832: Variant p.Arg124Trp

Discoidin domain-containing receptor 2
Gene: DDR2
Chromosomal location: 1q12-q23
Variant information

Variant position:  124
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 Arginine (R) to Tryptophan (W) at position 124 (R124W, p.Arg124Trp).
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 large size and aromatic (W)
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:  Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]: A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping. {ECO:0000269|PubMed:19110212, ECO:0000269|PubMed:20223752, ECO:0000269|PubMed:26463668}. 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 SEMD-SL.
Any additional useful information about the variant.



Sequence information

Variant position:  124
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  855
The length of the canonical sequence.

Location on the sequence:   GRHAGGHGIEFAPMYKINYS  R DGTRWISWRNRHGKQVLDGN
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                         GRHAGGHGIEFAPMYKINYSRDGTRWISWRNRHGKQVLDGN

Mouse                         GRHAGGHGIEFAPMYKINYSRDGSRWISWRNRHGKQVLDGN

Baker's yeast                 -----------------------------------------

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
Chain 22 – 855 Discoidin domain-containing receptor 2
Topological domain 22 – 399 Extracellular
Domain 30 – 185 F5/8 type C
Glycosylation 121 – 121 N-linked (GlcNAc...) asparagine
Disulfide bond 30 – 185
Disulfide bond 73 – 177
Beta strand 116 – 128


Literature citations

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Mansouri M.; Kayserili H.; Elalaoui S.C.; Nishimura G.; Iida A.; Lyahyai J.; Miyake N.; Matsumoto N.; Sefiani A.; Ikegawa S.;
Am. J. Med. Genet. A 170:460-465(2016)
Cited for: VARIANT SEMD-SL TRP-124;

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.