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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6KF10: Variant p.Tyr444Asn

Growth/differentiation factor 6
Gene: GDF6
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Variant information Variant position: help 444 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 Tyrosine (Y) to Asparagine (N) at position 444 (Y444N, p.Tyr444Asn). 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 (Y) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 SYNS4; increases chondrogenic activity; increases SMAD1/5/8 signaling pathway activation; not inhibited by NOG. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 444 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 455 The length of the canonical sequence.
Location on the sequence: help KLTPISILYIDAGNNVVYKQ Y EDMVVESCGCR 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                         KLTPISILYIDAGNNVVYKQYEDMVVESCGCR

Mouse                         KLTPISILYIDAGNNVVYKQYEDMVVESCGCR

Rat                           KLTPISILYIDAGNNVVYKQYEDMVVESCGCR

Bovine                        KLTPISILYIDAGNNVVYKQYEEMVVESCGCR
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 336 – 455 Growth/differentiation factor 6
Disulfide bond 383 – 452
Disulfide bond 387 – 454



Literature citations
A New Subtype of Multiple-Synostoses Syndrome is Caused by a Mutation in GDF6 that Decreases its Sensitivity to Noggin and Enhances its Potency as a BMP Signal.
Wang J.; Yu T.; Wang Z.; Ohte S.; Yao R.E.; Zheng Z.; Geng J.; Cai H.; Ge Y.; Li Y.; Xu Y.; Zhang Q.; Gusella J.F.; Fu Q.; Pregizer S.; Rosen V.; Shen Y.;
J. Bone Miner. Res. 31:882-889(2016)
Cited for: INVOLVEMENT IN SYNS4; VARIANT SYNS4 ASN-444; CHARACTERIZATION OF VARIANT SYNS4 ASN-444; FUNCTION;
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.