Variant position: 249 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:
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 LCLELRAAW-GELDAGEAEAR ARGPQQPPPPDLRSLGFGRRV
Mouse LCLELRAAW-GELDAGDTGAR ARGPQQPPPLDLRSLGFGRR
Rat LCLELRAVW-GELDARDSGAR PRGPQQSPPLDLRSLGFGRR
Bovine LCLELRAAWGGEPGAAEDEAR APGPQQPPPPDLRSLGFGRR
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.
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;
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.