Sequence information
Variant position: 52 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 503 The length of the canonical sequence.
Location on the sequence:
VTCTCESPHCKGPTCRGAWC
T VVLVREEGRHPQEHRGCGNL
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 VTCTCESPHCKGPTCRGAWCT VVLVREEGRHPQEHRGCGNL
Mouse VNCTCESPHCKRPFCQGSWCT VVLVREQGRHPQVYRGCGSL
Rat VNCTCENPHCKRPICQGAWCT VVLVREQGRHPQVYRGCGSL
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
Chain
22 – 503
Serine/threonine-protein kinase receptor R3
Topological domain
22 – 118
Extracellular
Disulfide bond
46 – 69
Beta strand
42 – 56
Literature citations
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler A.D.; Richards J.; George C.; Godmilow L.; Ganguly A.;
Hum. Mutat. 27:667-675(2006)
Cited for: VARIANT SER-30; VARIANTS HHT2 TYR-34; ALA-52; ILE-197; ASP-219; LYS-237; LEU-260; PRO-289; ARG-344; CYS-426 AND ARG-433;
Disclaimer:
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.