Variant position: 667 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 727 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 PDEQPSLMPHHDASTFTINI ALNRVGVDYEGGGCRFLRYNC
Mouse PDEQPSLMPHHDASTFTVNI ALNRVGEDYEGGGCRFLRYNC
Rat PDEQPSLMPHHDASTFTINI ALNRVGEDYEGGGCRFLRYNC
Bovine PDEQPSLVPHHDASTFTINI ALNRVGVDYEGGGCRFLRYNC
Chicken PDEQPSLMPHHDASTFTINI ALNRVGIDYEGGGCRFLRYNC
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
19 – 727 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
636 – 727 Fe2OG dioxygenase
656 – 656 Iron
658 – 658 Iron
686 – 686 N-linked (GlcNAc...) asparagine
656 – 656 H -> S. Loss of enzyme activity.
658 – 658 D -> A. Loss of enzyme activity.
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
Giunta C.; Randolph A.; Steinmann B.;
Mol. Genet. Metab. 86:269-276(2005)
Cited for: VARIANTS EDSKSCL1 THR-667 AND ARG-706;
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.