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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43026: Variant p.Trp414Arg

Growth/differentiation factor 5
Gene: GDF5
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Variant information Variant position: help 414 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 Tryptophan (W) to Arginine (R) at position 414 (W414R, p.Trp414Arg). 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 Change from large size and aromatic (W) to large size and basic (R) 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 SYNS2 and BDA1C; reduced interaction with NOG; reduces affinity to BMPR1A; impairs BMP signaling through BMPR1A; impairs chondrogenesis. Any additional useful information about the variant.


Sequence information Variant position: help 414 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 501 The length of the canonical sequence.
Location on the sequence: help KNLKARCSRKALHVNFKDMG W DDWIIAPLEYEAFHCEGLCE 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                         KNLKARCSRKALHVNFKDMGWDDWIIAPLEYEAFHCEGLCE

Mouse                         KNLKARCSRKALHVNFKDMGWDDWIIAPLEYEAFHCEGLCE

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
Chain 382 – 501 Growth/differentiation factor 5
Disulfide bond 400 – 466



Literature citations
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
Degenkolbe E.; Konig J.; Zimmer J.; Walther M.; Reissner C.; Nickel J.; Ploger F.; Raspopovic J.; Sharpe J.; Dathe K.; Hecht J.T.; Mundlos S.; Doelken S.C.; Seemann P.;
PLoS Genet. 9:E1003846-E1003846(2013)
Cited for: INTERACTION WITH NOG; BMPR1B AND BMPR1A; FUNCTION; VARIANT SYNS2 ARG-414; CHARACTERIZATION OF VARIANT SYNS2 ARG-414; VARIANT BDA1C ARG-414; CHARACTERIZATION OF VARIANTS BDA1C CYS-399 AND ARG-414;
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.