ASD - ALTERNATIVE SPLICING


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FIELD NAME
FIELD VALUE
  
AEdbMotif ID:322
Internal ref. ID:122-2005
Submitter name:FEDERICO MARIA ROSSI
Entry date:02-SEP-2005 11:52:47
 
Regulatory sequence name:ighg2 cgamma2 (immunoglobulin heavy chain subclass g2 - cgamma2 gene) - intron 1
Entry type:Intron enhancer
Sequence origin:Intronic
Organism:Homo sapiens, human
Binding factors:
 
EMBL/Genbank/DDBJ/RefSeq Accession number:J00230 , AY372690
Ensembl ID:OTTHUMG00000029945
AEdb ID:
Sequence:GTGAG
Mutated regulatory sequence:
 
Methods:Natural ocurring mutant
Keywords:point mutation,immunoglobulin,ighg2,igg2
 
Citation line:Zhao Y, Pan-Hammarstrom Q, Zhao Z, Wen S, Hammarstrom L. “Selective IgG2 deficiency due to a point mutation causing abnormal splicing of the Cgamma2 gene.” Int Immunol. 2005 Jan;17(1):95-101. Epub 2004 Nov 29.
PubMed ID:15569770
 
Comments:In the paper no binding factors where mentioned. The motif is at the 5’ site of intron 1. The mutated form of the motif leads to the use of a cryptic splicing site in the CH1 exon, thus deleting a 16 nt sequence in the mRNA (GTGGACAAGACAGTTG). This causes a frameshift in the reading of downstream sequence and leads to an early stop codon and to a non-functional form of the protein. The patients with the mutated form of the motif have deficiencies in IgG2. Mutated regulatory sequence: gtggg
(activated in workbench):N
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