Variant position: 740 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 SQGAPGLQGMPGERGAAGLP GPKGDRGDAGPKGADGSPGKD
Mouse SQGAPGLQGMPGERGAAGLP GPKGDRGDAGPKGADGSPGKD
Rat SQGAPGLQGMPGERGAAGLP GPKGDRGDAGPKGADGSPGKD
Bovine SQGAPGLQGMPGERGAAGLP GPKGDRGDAGPKGADGAPGKD
Chicken NEGPPGLEGMPGERGAAGLP GAKGDRGDPGPKGADGAPGKD
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
724 – 724 4-hydroxyproline
730 – 730 4-hydroxyproline
739 – 739 4-hydroxyproline
751 – 751 5-hydroxylysine
757 – 757 4-hydroxyproline
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;
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.