Sequence information
Variant position: 560 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:
LTGSPGSPGPDGKTGPPGPA
G QDGRPGPPGPPGARGQAGVM
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 LTGSPGSPGPDGKTGPPGPAG QDGRPGPPGPPGARGQAGVM
LTGSPGSPGPDGKTGPPGPAG QDGRPGPPGPPGARGQAGVM
Mouse LTGSPGSPGPDGKTGPPGPAG QDGRPGPAGPPGARGQAGVM
Rat LTGSPGSPGPDGKTGPPGPAG QDGRPGPAGPPGARGQAGVM
Bovine LTGSPGSPGPDGKTGPPGPAG QDGRPGPPGPPGARGQAGVM
Chicken LTGSPGSPGPDGKTGPPGPAG QDGRPGPAGPPGARGQAGVM
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
Chain
162 – 1218
Collagen alpha-1(I) chain
Region
179 – 1192
Triple-helical region
Modified residue
544 – 544
4-hydroxyproline
Modified residue
547 – 547
4-hydroxyproline
Modified residue
556 – 556
4-hydroxyproline
Modified residue
565 – 565
4-hydroxyproline
Modified residue
571 – 571
4-hydroxyproline
Literature citations
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
Mackay K.; Byers P.H.; Dalgleish R.;
Hum. Mol. Genet. 2:1155-1160(1993)
Cited for: VARIANTS OI2 SER-425 AND SER-530; VARIANT OI4 SER-560; VARIANT OI3 SER-719; VARIANT ALA-823;
Disclaimer:
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.