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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17813: Variant p.Leu306Pro

Endoglin
Gene: ENG
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Variant information Variant position: help 306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Proline (P) at position 306 (L306P, p.Leu306Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HHT1. Any additional useful information about the variant.


Sequence information Variant position: help 306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 658 The length of the canonical sequence.
Location on the sequence: help NIRGFKLPDTPQGLLGEARM L NASIVASFVELPLASIVSLH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NIRGFKLPDTPQGLLGEA-RMLNASIVASFVELPL-ASIVSLH

Mouse                         KVKGVELPDTPQGLIAEA-RKLNASIVTSFVELPL-VSNVS

Pig                           NIQGVNLPDTRQGLLEEA-RKLNASVIASFVELPL-ASVIS

Zebrafish                     --PRMAISDNPTDIRQKALSYFSSGFISSYSEIRLNVTNVE
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 26 – 658 Endoglin
Topological domain 26 – 586 Extracellular
Region 26 – 337 Required for interaction with GDF2
Region 200 – 330 OR1, C-terminal part
Glycosylation 307 – 307 N-linked (GlcNAc...) asparagine
Disulfide bond 242 – 330
Mutagenesis 290 – 290 F -> A. No effect on interaction with GDF2.



Literature citations
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;
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.