Variant position: 382 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 654 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 GERGEAGPPGRGERGEPGAP GPKGKQGESGTRGPKGSKGDR
Mouse GDRGEAGPPGRGERGDPGAP GPKGKQGESGARGPKGSKGDR
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
1 – 654 Collagen alpha-1(XXV) chain
113 – 654 Collagen-like Alzheimer amyloid plaque component
55 – 654 Extracellular
372 – 425 Collagen-like 5
189 – 426 Disordered
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
Shinwari J.M.; Khan A.; Awad S.; Shinwari Z.; Alaiya A.; Alanazi M.; Tahir A.; Poizat C.; Al Tassan N.;
Am. J. Hum. Genet. 96:147-152(2015)
Cited for: INVOLVEMENT IN CFEOM5; VARIANT CFEOM5 ARG-382; CHARACTERIZATION OF VARIANT CFEOM5 ARG-382;
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.