Variant position: 263 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 APGDLDAVLILQGPPYVSWL IDANHNMQIWTTGEYSFKIFP
Mouse TSGD--AILILHGPPYVSWF IDINHSMQILTTGEYSVKIFP
Pig ALRDPEAVLILQGPPYVSWL IDANHNVKAWTTGEYSFKIFP
Zebrafish N-------VVLRGPAGTHWI IKNSLRIGILSNNQIHLQSFP
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
242 – 330
246 – 246 D -> A. No effect on interaction with GDF2.
269 – 269 M -> A. Impairs protein folding, but does not abolish interaction with GDF2.
277 – 277 Y -> A. No effect on interaction with GDF2.
278 – 278 S -> P. Loss of interaction with GDF2.
282 – 282 F -> V. Loss of interaction with GDF2.
259 – 267
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J.; Grant K.; Chao E.C.; Walther S.E.; Ganguly A.;
Hum. Genet. 128:61-77(2010)
Cited for: VARIANTS PRO-150; PRO-205; MET-236; MET-315; GLU-374; ARG-414; SER-545; TYR-549 AND ALA-561; VARIANTS HHT1 GLN-221; GLU-238; SER-263; ARG-269; TYR-394; PRO-529 AND ARG-603;
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.