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Mutation Database
Mutations of the Bardet-Biedl Syndrome Type 2 Gene (BBS2)

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.




BBS2 IVS4+1G-C

IVS4
Compound:
  • single
Triallelic inheritance
  • HBD for BBS3
goto HGMD
(1)

BBS2 IVS1-1G-C

IVS1
Compound:
  • single
goto HGMD 606151-0011 (1)

BBS2 IVS1+1G-C

IVS1
Compound:
  • R315Q
goto HGMD
(1)

BBS2 Gln 59 ter CAG-TAG


Compound:
  • single
  • Y24X
Triallelic inheritance
  • Q147X (BBS6)
goto HGMD 606151-0004 (1)

BBS2 Asn 70 Ser AAC-AGC


Compound:
  • single
Triallelic inheritance
  • homozygous Y37C (BBS6)
goto HGMD 606151-0013 (1)

BBS2 Asp 104 Ala GAT-GCT


Compound:
  • R634P
Triallelic inheritance
  • HBD in BBS1
goto HGMD 606151-0009 (1)

BBS2 Tyr 24 ter



Compound:
  • single
  • Homozygous
  • Q59X
Triallelic inheritance
  • A242S (BBS6)
  • Q147X (BBS6)

606151-0003 (1)

BBS2 Val 158 fs X200



Compound:
  • single
Triallelic inheritance
  • HBD for BBS1

606151-0012 (1)

BBS2 Leu 168 fsX170



Compound:
  • R216X
Triallelic inheritance
  • C499S (BBS6)

606151-0014 (1)

BBS2 Asp 170 fs X171



Compound:
  • Homozygous
Triallelic inheritance
  • HBD for BBS1

606151-0007 (1)

BBS2 Cys 210 fs X246



Compound:
  • Homozygous

606151-0008 (1)

BBS2 Arg 216 ter CGA-TGA


Compound:
  • L168fsX170
Triallelic inheritance
  • C499S (BBS6)
goto HGMD 606151-0016 (1)

BBS2 Arg 315 Trp CGG-TGG


Compound:
  • Homozygous
Triallelic inheritance
  • HBD for BBS4
goto HGMD 606151-0006 (1)

BBS2 Arg 315 Gln CGG-CAG


Compound:
  • R315Q/IVS1+1G-C
goto HGMD
(1)

BBS2 Arg 643 Pro



Compound:
  • D104A

606151-0010 (1)

BBS2 Val 75 Gly GTC-GGC 0224 02
Homozygous
Bedouin
Milder obesity
goto HGMD 606151-0002 (2)

BBS2 Arg 272 ter CGA-TGA 0814 08
Homozygous

(2)

BBS2 Arg 275 ter CGA-TGA 0823 08
Compound:
  • Homozygous
Triallelic:
  • HBD for BBS1
goto HGMD 606151-0005 (2)
(1)

BBS2 940delA GAAAG-G_AAG 0940 08
Compound:
  • Homozygous
goto HGMD 606151-0001 (2)

BBS2 1206insA TACGC-TAACGC 1206 10
Homozygous

(2)

BBS2 (no RP) Thr 560 Ile



Compound:
  • Homozygous
Triallelic inheritance
  • HBD for BBS4

606151-0015 (1)

Polymorphism Ile 123 Val A/G 0369 03



(2)

Polymorphism Val 471 Val GTA/GTC 1413 12



(2)

References

  1. Katsanis,N., Shroyer,N.F., Lewis,R.A., Cavender,J.C., Al Rajhi,A.A., Jabak,M., and Lupski,J.R. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 2001; Clin.Genet. 59: 424-429.
    Link to PubMed
    Goto Top

  2. Nishimura,D.Y., Searby,C.C., Carmi,R., Elbedour,K., Maldergem,L.V., Fulton,A.B., Lam,B.L., Powell,B.R., Swiderski,R.E., Bugge,K.E., Haider,N.B., Kwitek-Black,A.E., Ying,L., Duhl,D.M., Gorman,S.W., Heon,E., Iannaccone,A., Bonneau,D., Biesecker,L.G., Jacobson,S.G., Stone,E.M., and Sheffield,V.C. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 2001; Hum.Mol.Genet. 10: 865-874.
    Link to PubMed
    Goto Top


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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz