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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6KF10: Variant p.Ala249Glu

Growth/differentiation factor 6
Gene: GDF6
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Variant information Variant position: help 249 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 Alanine (A) to Glutamate (E) at position 249 (A249E, p.Ala249Glu). 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 small size and hydrophobic (A) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In KFS1, MCOP4 and LCA17; reduced protein expression associated with decrease in growth factor activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 249 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 LCLELRAAWGELDAGEAEAR A RGPQQPPPPDLRSLGFGRRV 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                         LCLELRAAW-GELDAGEAEARARGPQQPPPPDLRSLGFGRRV

Mouse                         LCLELRAAW-GELDAGDTGARARGPQQPPPLDLRSLGFGRR

Rat                           LCLELRAVW-GELDARDSGARPRGPQQSPPLDLRSLGFGRR

Bovine                        LCLELRAAWGGEPGAAEDEARAPGPQQPPPPDLRSLGFGRR

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
Propeptide 23 – 335
Region 244 – 267 Disordered



Literature citations
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
Tassabehji M.; Fang Z.M.; Hilton E.N.; McGaughran J.; Zhao Z.; de Bock C.E.; Howard E.; Malass M.; Donnai D.; Diwan A.; Manson F.D.C.; Murrell D.; Clarke R.A.;
Hum. Mutat. 29:1017-1027(2008)
Cited for: CHROMOSOMAL REARRANGEMENT; VARIANTS KFS1 GLU-249 AND PRO-289; Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Asai-Coakwell M.; March L.; Dai X.H.; Duval M.; Lopez I.; French C.R.; Famulski J.; De Baere E.; Francis P.J.; Sundaresan P.; Sauve Y.; Koenekoop R.K.; Berry F.B.; Allison W.T.; Waskiewicz A.J.; Lehmann O.J.;
Hum. Mol. Genet. 22:1432-1442(2013)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS LCA17 HIS-57; THR-199; GLU-249 AND ASP-292; CHARACTERIZATION OF VARIANTS LCA17 HIS-57; THR-199; GLU-249 AND ASP-292; Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Asai-Coakwell M.; French C.R.; Ye M.; Garcha K.; Bigot K.; Perera A.G.; Staehling-Hampton K.; Mema S.C.; Chanda B.; Mushegian A.; Bamforth S.; Doschak M.R.; Li G.; Dobbs M.B.; Giampietro P.F.; Brooks B.P.; Vijayalakshmi P.; Sauve Y.; Abitbol M.; Sundaresan P.; van Heyningen V.; Pourquie O.; Underhill T.M.; Waskiewicz A.J.; Lehmann O.J.;
Hum. Mol. Genet. 18:1110-1121(2009)
Cited for: VARIANTS MCOP4 ARG-119; GLY-216; GLU-249; LEU-253 AND HIS-327; VARIANTS KFS1 VAL-42 AND ARG-424;
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.