Variant position: 306 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 NIRGFKLPDTPQGLLGEA-RM LNASIVASFVELPL-ASIVSLH
Mouse KVKGVELPDTPQGLIAEA-RK LNASIVTSFVELPL-VSNVS
Pig NIQGVNLPDTRQGLLEEA-RK LNASVIASFVELPL-ASVIS
Zebrafish --PRMAISDNPTDIRQKALSY FSSGFISSYSEIRLNVTNVE
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.
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Gallione C.J.; Klaus D.J.; Yeh E.Y.; Stenzel T.T.; Xue Y.; Anthony K.B.; McAllister K.A.; Baldwin M.A.; Berg J.N.; Lux A.; Smith J.D.; Vary C.P.H.; Craigen W.J.; Westermann C.J.J.; Warner M.L.; Miller Y.E.; Jackson C.E.; Guttmacher A.E.; Marchuk D.A.;
Hum. Mutat. 11:286-294(1998)
Cited for: VARIANTS HHT1 VAL-52; ARG-53; CYS-149 AND PRO-306;
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