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Retina International's Scientific Newsletter |
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:
|
goto HGMD |
|
(1)
|
|||
BBS2 | IVS1-1G-C | IVS1 |
Compound:
|
goto HGMD | 606151-0011 |
(1)
|
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BBS2 | IVS1+1G-C | IVS1 |
Compound:
|
goto HGMD |
|
(1)
|
|||
BBS2 | Gln 59 ter | CAG-TAG |
Compound:
|
goto HGMD | 606151-0004 |
(1)
|
|||
BBS2 | Asn 70 Ser | AAC-AGC |
Compound:
|
goto HGMD | 606151-0013 |
(1)
|
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BBS2 | Asp 104 Ala | GAT-GCT |
Compound:
|
goto HGMD | 606151-0009 |
(1)
|
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BBS2 | Tyr 24 ter |
Compound:
|
|
606151-0003 |
(1)
|
||||
BBS2 | Val 158 fs X200 |
Compound:
|
|
606151-0012 |
(1)
|
||||
BBS2 | Leu 168 fsX170 |
Compound:
|
|
606151-0014 |
(1)
|
||||
BBS2 | Asp 170 fs X171 |
Compound:
|
|
606151-0007 |
(1)
|
||||
BBS2 | Cys 210 fs X246 |
Compound:
|
|
606151-0008 |
(1)
|
||||
BBS2 | Arg 216 ter | CGA-TGA |
Compound:
|
goto HGMD | 606151-0016 |
(1)
|
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BBS2 | Arg 315 Trp | CGG-TGG |
Compound:
|
goto HGMD | 606151-0006 |
(1)
|
|||
BBS2 | Arg 315 Gln | CGG-CAG |
Compound:
|
goto HGMD |
|
(1)
|
|||
BBS2 | Arg 643 Pro |
Compound:
|
|
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:
|
goto HGMD | 606151-0005 |
(2)
(1) |
|
BBS2 | 940delA | GAAAG-G_AAG | 0940 | 08 |
Compound:
|
goto HGMD | 606151-0001 |
(2)
|
|
BBS2 | 1206insA | TACGC-TAACGC | 1206 | 10 | Homozygous |
|
|
(2)
|
|
BBS2 (no RP) | Thr 560 Ile |
Compound:
|
|
606151-0015 |
(1)
|
||||
Polymorphism | Ile 123 Val | A/G | 0369 | 03 |
|
|
|
(2)
|
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Polymorphism | Val 471 Val | GTA/GTC | 1413 | 12 |
|
|
|
(2)
|
References
Link to PubMed
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Link to PubMed
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This site is maintained and edited by
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 |