Variant position: 308 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 658 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 RGFKLPDTPQGLLGEA-RMLN ASIVASFVELPL-ASIVSLHAS
Mouse KGVELPDTPQGLIAEA-RKLN ASIVTSFVELPL-VSNVSLR
Pig QGVNLPDTRQGLLEEA-RKLN ASVIASFVELPL-ASVISLQ
Zebrafish PRMAISDNPTDIRQKALSYFS SGFISSYSEIRLNVTNVELW
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
26 – 658 Endoglin
26 – 586 Extracellular
26 – 337 Required for interaction with GDF2
200 – 330 OR1, C-terminal part
307 – 307 N-linked (GlcNAc...) asparagine
242 – 330
290 – 290 F -> A. No effect on interaction with GDF2.
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: VARIANTS HHT1 ASP-11; ASP-105; GLU-175; THR-220; ASP-308; SER-363; TRP-437; SER-490; HIS-529; PRO-547 AND ASP-604;
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.