Variant position: 399 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 501 The length of the canonical sequence.
Location on the sequence:
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 KRRAPLATRQGKRPSKNLKA RCSRKALHVNFKDMGWDDWII
Mouse KRRAPLANRQGKRPSKNLKA RCSRKALHVNFKDMGWDDWII
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
382 – 501 Growth/differentiation factor 5
399 – 403
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;
Mutations in GDF5 presenting as semidominant brachydactyly A1.
Byrnes A.M.; Racacho L.; Nikkel S.M.; Xiao F.; MacDonald H.; Underhill T.M.; Bulman D.E.;
Hum. Mutat. 31:1155-1162(2010)
Cited for: VARIANT BDA1C CYS-399; CHARACTERIZATION OF VARIANT BDA1C CYS-399;
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