Variant position: 221 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 FQGPPGEPGEPGASGPMGPR GPPGPPGKNGDDGEAGKPGRP
Mouse FQGPPGEPGEPGGSGPMGPR GPPGPPGKNGDDGEAGKPGRP
Rat FQGPPGEPGEPGASGPMGPR GPPGPPGKNGDDGEAGKPGRP
Bovine FQGPPGEPGEPGASGPMGPR GPPGPPGKNGDDGEAGKPGRP
Chicken FQGPPGEPGEPGASGPMGPR GPAGPPGKNGDDGEAGKPGRP
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
205 – 205 4-hydroxyproline
208 – 208 4-hydroxyproline
211 – 211 4-hydroxyproline
226 – 226 4-hydroxyproline
241 – 241 4-hydroxyproline
An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.
Shapiro J.R.; Stover M.L.; Burn V.E.; McKinstry M.B.; Burshell A.L.; Chipman S.D.; Rowe D.W.;
J. Clin. Invest. 89:567-573(1992)
Cited for: VARIANT OI1 CYS-221;
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