Variant position: 809 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1464 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 PAGPTGARGAPGDRGEPGPP GPAGFAGPPGADGQPGAKGEP
Mouse PPGPTGARGAPGDRGEAGPP GPAGFAGPPGADGQPGAKGEP
Rat PAGPTGARGAPGDRGEPGPP GPAGFAGPPGADGQPGAKGEP
Bovine PAGPTGARGAPGDRGEPGPP GPAGFAGPPGADGQPGAKGEP
Chicken PAGPTGARGAPGDRGEPGPP GPAGFAGPPGADGQPGAKGET
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.
Type Positions Description
162 – 1218 Collagen alpha-1(I) chain
179 – 1192 Triple-helical region
799 – 799 4-hydroxyproline
805 – 805 4-hydroxyproline
808 – 808 4-hydroxyproline
817 – 817 4-hydroxyproline
823 – 823 4-hydroxyproline
Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks.
Westerhausen A.; Kishi J.; Prockop D.J.;
J. Biol. Chem. 265:13995-14000(1990)
Cited for: VARIANTS OI2 SER-776 AND SER-809;
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian D.L.; Chan T.F.; Poon A.; Schwarze U.; Yang K.; Byers P.H.; Kwok P.Y.; Klein T.E.;
Hum. Mol. Genet. 18:463-471(2009)
Cited for: VARIANTS OI2 THR-146; VAL-288; ASP-353; VAL-368; THR-390; SER-425; ASP-455; VAL-470; VAL-509; ALA-548; ARG-602; ASP-605; ARG-614; ARG-740; SER-809; ARG-824; ARG-845; ARG-848; HIS-855; SER-866; SER-875; SER-884; ASP-896; CYS-947; ASP-977; CYS-1001; VAL-1022; ALA-PRO-GLY-1052 INS; ASP-1055; SER-1094; ASP-1100 AND ASN-1413; VARIANT ALA-1075;
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