Sequence information
Variant position: 398 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:
PAGAAGPAGNPGADGQPGAK
G ANGAPGIAGAPGFPGARGPS
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 PAGAAGPAGNPGADGQPGAKG ANGAPGIAGAPGFPGARGPS
PAGAAGPAGNPGADGQPGAKG ANGAPGIAGAPGFPGARGPS
Mouse PAGAAGPAGNPGADGQPGAKG ANGAPGIAGAPGFPGARGPS
Rat PAGAAGPAGNPGADGQPGAKG ANGAPGIAGAPGFPGARGPS
Bovine PAGAAGPAGNPGADGQPGAKG ANGAPGIAGAPGFPGARGPS
Chicken PAGAAGPAGNPGADGQPGAKG ATGAPGIAGAPGFPGARGPS
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
388 – 388
4-hydroxyproline
Modified residue
394 – 394
4-hydroxyproline
Modified residue
403 – 403
4-hydroxyproline
Modified residue
409 – 409
4-hydroxyproline
Modified residue
412 – 412
4-hydroxyproline
Literature citations
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
Sarafova A.P.; Choi H.; Forlino A.; Gajko A.; Cabral W.A.; Tosi L.; Reing C.M.; Marini J.C.;
Hum. Mutat. 11:395-403(1998)
Cited for: VARIANTS OI4 ALA-398; CYS-527 AND CYS-701;
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.