Variant position: 530 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 ERGSPGPAGPKGSPGEAGRP GEAGLPGAKGLTGSPGSPGPD
Mouse ERGAPGPAGPKGSPGEAGRP GEAGLPGAKGLTGSPGSPGPD
Rat ERGSPGPAGPKGSPGEAGRP GEAGLPGAKGLTGSPGSPGPD
Bovine ERGAPGPAGPKGSPGEAGRP GEAGLPGAKGLTGSPGSPGPD
Chicken ERGSPGAVGPKGSPGEAGRP GEAGLPGAKGLTGSPGSPGPD
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
514 – 514 4-hydroxyproline
523 – 523 4-hydroxyproline
529 – 529 4-hydroxyproline
535 – 535 4-hydroxyproline
544 – 544 4-hydroxyproline
547 – 547 4-hydroxyproline
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.
Marini J.C.; Lewis M.B.; Chen K.J.;
Am. J. Med. Genet. 45:241-245(1993)
Cited for: VARIANT OI3 SER-530;
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;
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
Marini J.C.; Lewis M.B.; Wang Q.; Chen K.J.; Orrison B.M.;
J. Biol. Chem. 268:2667-2673(1993)
Cited for: VARIANT OI4 SER-530;
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