Variant position: 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 448 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 TLNEDGRSCQDVNECATENP CVQTCVNTYGSFICRCDPGYE
Mouse TLNDDGRSCQDVNECETENP CVQTCVNTYGSFICRCDPGYE
Rat TLNDDGRSCQDVNECETENP CVQTCVNTYGSFICRCDPGYE
Bovine TLNEDGRSCQDVNECATENP CVQTCVNTYGSFICRCDPGYE
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.
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
Hu Q.; Loeys B.L.; Coucke P.J.; De Paepe A.; Mecham R.P.; Choi J.; Davis E.C.; Urban Z.;
Hum. Mol. Genet. 15:3379-3386(2006)
Cited for: VARIANTS ARCL1A ARG-217 AND PRO-227; CHARACTERIZATION OF VARIANTS ARCL1A ARG-217 AND PRO-227; FUNCTION; INTERACTION WITH ELN; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery A.J.; Baas D.; Ridley C.; Jones R.P.; Klaver C.C.; Stone E.; Nakamura T.; Luff A.; Griffiths H.; Wang T.; Bergen A.A.; Trump D.;
Hum. Mutat. 27:568-574(2006)
Cited for: VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351; THR-363 AND GLU-412; CHARACTERIZATION OF VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351; THR-363 AND GLU-412; VARIANTS ARCL1A ARG-217 AND PRO-227; CHARACTERIZATION OF VARIANTS ARCL1A ARG-217 AND PRO-227; VARIANTS MET-126 AND ARG-202; SUBCELLULAR LOCATION;
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
Claus S.; Fischer J.; Megarbane H.; Megarbane A.; Jobard F.; Debret R.; Peyrol S.; Saker S.; Devillers M.; Sommer P.; Damour O.;
J. Invest. Dermatol. 128:1442-1450(2008)
Cited for: VARIANT ARCL1A ARG-217; CHARACTERIZATION OF VARIANT ARCL1A ARG-217; FUNCTION;
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
Jones R.P.; Ridley C.; Jowitt T.A.; Wang M.C.; Howard M.; Bobola N.; Wang T.; Bishop P.N.; Kielty C.M.; Baldock C.; Lotery A.J.; Trump D.;
Invest. Ophthalmol. Vis. Sci. 51:2356-2362(2010)
Cited for: CHARACTERIZATION OF VARIANTS MET-126 AND ARG-202; CHARACTERIZATION OF VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351 AND GLU-412; CHARACTERIZATION OF VARIANTS ARCL1A ARG-217 AND PRO-227; SUBUNIT;
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.