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UniProtKB/Swiss-Prot Q6KF10: Variant p.Ala199Thr

Growth/differentiation factor 6
Gene: GDF6
Variant information

Variant position:  199
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Alanine (A) to Threonine (T) at position 199 (A199T, p.Ala199Thr).
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 small size and hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  In LCA17; found also in a patient with microphthalmia isolated with coloboma type 6 carrying a mutation in GDF3; reduced protein expression associated with decrease in growth factor activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  199
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  455
The length of the canonical sequence.

Location on the sequence:   PPAGPLHVQLFPCLSPLLLD  A RTLDPQGAPPAGWEVFDVWQ
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                         PPAGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQ

Mouse                         LPARPLHLQLFPCLSPLLLDARTLDPQGPTQAGWEVFDVWQ

Rat                           PQTRPLHLQLFPCLSPLLLDSRTLDPQGPTEAGWEVFDVWQ

Bovine                        PPAGPLRLQLFACQSPLLLEARSLDPQGAPRPGWEVFDVWR

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
Propeptide 23 – 335


Literature citations

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;

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ye M.; Berry-Wynne K.M.; Asai-Coakwell M.; Sundaresan P.; Footz T.; French C.R.; Abitbol M.; Fleisch V.C.; Corbett N.; Allison W.T.; Drummond G.; Walter M.A.; Underhill T.M.; Waskiewicz A.J.; Lehmann O.J.;
Hum. Mol. Genet. 19:287-298(2010)
Cited for: VARIANT THR-199;

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.