Database RASGRP2base
Version 1.0
File rasgrp2pub.html
Date 30-Aug-2007
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/RASGRP2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF139.html
Gene RASGRP2
Disease Leukocyte adhesion deficiency III
OMIM 605577
Sequence IDRefSeq:D0127; IDRefSeq:C0127; UniProt:Q9UL65
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Intron 15(1),Intron 15(1); standard; MUTATION;
Accession R0001
Systematic name Allele 1 and 2: g.IVS15-3C>A, c.1778-3C>A,
Original code Patient K
Description Allele 1 and 2: A point mutation in the intron 15 leading
Description to aberrant splicing
Date 23-Aug-2007 (Rel. 1, Created)
Date 23-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17576779
RefAuthors Pasvolsky, R., Feigelson, S. W., Kilic, S. S., Simon, A.
RefAuthors J., Tal-Lapidot, G., Grabovsky, V., Crittenden, J. R.,
RefAuthors Amariglio, N., Safran, M., Graybiel, A. M., Rechavi, G.,
RefAuthors Ben-Dor, S., Etzioni, A., Alon, R.
RefTitle A LAD-III syndrome is associated with defective expression
RefTitle of the rap-1 activator calDAG-GEFI in lymphocytes,
RefTitle neutrophils, and platelets.
RefLoc J Exp Med:1571-1582 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0127: 16936
Feature /change: c -> a
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0127: 16936
Feature /change: c -> a
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -3
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Failure to thrive, recurrent severe bacterial infections
Symptoms (pneumonias and sepsis) associated with marked
Symptoms leukocytosis, but normal platelet counts. Patient had
Symptoms surgery to correct a bowel intususpection when he was 14 mo
Symptoms old, resulting in a large, nonhealing wound after the
Symptoms operation; blood culture yielted B-hemolytic Pseudomonas
Symptoms aeruginosa.
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Comment Patient K died at 2 yr of age from sepsis and pulmonary
Comment bleeding.
//
ID Intron 15(2),Intron 15(2); standard; MUTATION;
Accession R0002
Systematic name Allele 1 and 2: g.IVS15-3C>A, c.1778-3C>A,
Original code Patient A
Description Allele 1 and 2: A point mutation in the intron 15 leading
Description to aberrant splicing
Date 23-Aug-2007 (Rel. 1, Created)
Date 23-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17576779
RefAuthors Pasvolsky, R., Feigelson, S. W., Kilic, S. S., Simon, A.
RefAuthors J., Tal-Lapidot, G., Grabovsky, V., Crittenden, J. R.,
RefAuthors Amariglio, N., Safran, M., Graybiel, A. M., Rechavi, G.,
RefAuthors Ben-Dor, S., Etzioni, A., Alon, R.
RefTitle A LAD-III syndrome is associated with defective expression
RefTitle of the rap-1 activator calDAG-GEFI in lymphocytes,
RefTitle neutrophils, and platelets.
RefLoc J Exp Med:1571-1582 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0127: 16936
Feature /change: c -> a
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0127: 16936
Feature /change: c -> a
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -3
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Failure to thrive, recurrent severe bacterial infections
Symptoms (pneumonias, necessitating constant antibiotic treatment)
Symptoms associated with marked leukocytosis, but normal platelet
Symptoms counts.
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Comment Patient A's sister died at age 15 mo from pneumonia and
Comment sepsis and had suffered from anemia and bleeding tendency
Comment from early life.
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