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Mutation Database
 Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2)

Recent update from: 12.03.2003

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Sequence

0 0
The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.



BBS1 Glu 234 Lys G - A
08
Homozygous
Consangiuneous
Complex inheritance with homozygous BBS2L1 mutation T211I


(1)
BBS1 IVS4+1G-A AGgta - AGata 0432 IVS4
Puerto Rican
Compound:
  • E549X



(2)
BBS1 851delA GTACT - GT_CT 0851 10
Turkish
Consanguineous
Compound:
  • Homozygous



(2)
BBS1 Met 390 Arg ATG - AGG 1179 12
Puerto Rican
Northern European-American
Compound:
  • Homozygous
  • E549X
Major BBS Mutation


(2)
BBS1 Glu 549 ter GAG - TAG 1655 16
Puerto Rican
Compound:
  • Homozygous
  • M390R
  • IVS4+1G-A



(2)

References

  1. Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.
    Link to PubMed
    Goto Top

  2. Mykytyn,K., Nishimura,D.Y., Searby,C.C., Shastri,M., Yen,H.J., Beck,J.S., Braun,T., Streb,L.M., Cornier,A.S., Cox,G.F., Fulton,A.B., Carmi,R., Luleci,G., Chandrasekharappa,S.C., Collins,F.S., Jacobson,S.G., Heckenlively,J.R., Weleber,R.G., Stone,E.M., and Sheffield,V.C. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 2002; Nat.Genet. 31: 435-438.
    Link to PubMed
    Goto Top

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