Variant position: 1185 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1466 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 PRGNRGERGSEGSPGHPGQP GPPGPPGAPGPCCGGVGAAAI
Mouse PRGNRGERGSEGSPGHPGQP GPPGPPGAPGPCCGG-GAAAI
Rat PRGNRGERGSEGSPGHPGQP GPPGPPGAPGPCCGG-G-AAI
Bovine PRGNRGERGSEGSPGHPGQP GPPGPPGAPGPCCGAGGVAAI
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.
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
Kontusaari S.; Tromp G.; Kuivaniemi H.; Stolle C.A.; Pope F.M.; Prockop D.J.;
Am. J. Hum. Genet. 51:497-507(1992)
Cited for: VARIANT EDSVASC ASP-1185;
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.