Variant position: 593 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 ARGQAGVMGFPGPKGAAGEP GKAGERGVPGPPGAVGPAGKD
Mouse ARGQAGVMGFPGPKGTAGEP GKAGERGLPGPPGAVGPAGKD
Rat ARGQAGVMGFPGPKGTAGEP GKAGERGVPGPPGAVGPAGKD
Bovine ARGQAGVMGFPGPKGAAGEP GKAGERGVPGPPGAVGPAGKD
Chicken ARGQAGVMGFPGPKGAAGEP GKPGERGAPGPPGAVGAAGKD
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
583 – 583 4-hydroxyproline
592 – 592 4-hydroxyproline
601 – 601 4-hydroxyproline
604 – 604 4-hydroxyproline
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.
Mottes M.; Gomez Lira M.; Valli M.; Scarano G.; Lonardo F.; Forlino A.; Cetta G.; Pignatti P.F.;
Hum. Mutat. 2:196-204(1993)
Cited for: VARIANT OI2 SER-593; VARIANT OI3 SER-593;
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.