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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17813: Variant p.Cys53Arg

Endoglin
Gene: ENG
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Variant information Variant position: help 53 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 Cysteine (C) to Arginine (R) at position 53 (C53R, p.Cys53Arg). 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 Change from medium size and polar (C) to large size and basic (R) 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; impairs protein folding; abolishes expression at the cell surface. Any additional useful information about the variant.


Sequence information Variant position: help 53 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 QPVGPERGEVTYTTSQVSKG C VAQAPNAILEVHVLFLEFPT 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                         QPVGPERGE-VTYTTSQVSKGCVA--QAPNAILEVHVLFLEFPT

Mouse                         QPVDPTRGE-VTFTTSQVSEGCVA--QAANAVREVHVLFLD

Pig                           QPVDPK----VTYTTSQVSEGCVA--HVPNATVGVHILFLE

Zebrafish                     KDVSGNSNDWIVLREKPL--GCWTDFQTENGT-EVHIINLE
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 47 – 199 OR2
Disulfide bond 30 – 207
Disulfide bond 53 – 182
Beta strand 40 – 54



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; Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.
Pece-Barbara N.; Cymerman U.; Vera S.; Marchuk D.A.; Letarte M.;
Hum. Mol. Genet. 8:2171-2181(1999)
Cited for: VARIANTS HHT1 VAL-52; ARG-53; CYS-149 AND PRO-221; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS HHT1 VAL-52; ARG-53; CYS-149 AND PRO-221; Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.
Cymerman U.; Vera S.; Pece-Barbara N.; Bourdeau A.; White R.I. Jr.; Dunn J.; Letarte M.;
Pediatr. Res. 47:24-35(2000)
Cited for: VARIANT HHT1 ARG-53; TISSUE SPECIFICITY;
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.