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Mutation Database
 Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1 (AIPL1)

Recent update from: 10.03.2003

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




The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as used in most of the recent publications of AIPL1 mutations.


adCRD 1053del12bp CCT GCA GAG CCA CCC-CC_ ___ ___ ___ __C 1053 6
Hetrozygous goto HGMD 604392-0004 (4)
Begnin Variant IVS1-9g-a tcggt-tcagt 0097 IVS1



(4)
Begnin Variant IVS2+66g-c gcggg-gccgg 0276 IVS2



(4)
Begnin Variant IVS2-88c-t c-t 0277 IVS2



(4)
Begnin Variant IVS2-14g-a ccgtt-ccatt 0277 IVS2



(4)
Begnin Variant IVS2-10a-c ttatc-ttctc 0277 IVS2



(4)
Begnin Variant IVS3-25c-t c-t 0466 IVS3



(4)
Begnin Variant IVS3-22t-c t-c 0466 IVS3



(4)
Begnin Variant IVS5+18g-a g-a 0784 IVS5 MbiI+


(4)
Benign Variant Asp 90 His GAC-CAC 0268 2 NlaIIV+


(3)
LCA4 Arg 53 Trp CGG-TGG 0157 2
4/5 -3/4 reduction in NUB1 interaction in Y2H-Assay

(1)
LCA4 Met 79 Thr ATG-ACG 0236 2
India
7/8-6/7 reduction in NUB1 interaction in Y2H-Assay
Compound:
  • Homozygous
goto HGMD
(4)
(1)
LCA4 Trp 88 ter TGG-TGA 0264 2
Bangladesh
Homozygous 		goto HGMD
(4)
LCA4 IVS2-2a-g acagC-acggC 0277 IVS2
Compound:
  • W278X
goto HGMD
(4)
LCA4 Val 96 Ile GTC-ATC 0286 3 MwoI+ Portugal

2/3 - 3/4 reduction in NUB1 interaction in Y2H-Assay Compound:
  • single
goto HGMD
(4)
(1)
LCA4 Thr 114 Ile ACA-ATA 0341 3
Published as T124I
African-American
Compound:
  • P376S
goto HGMD
(4)
LCA4 Gln163 ter CAG-TAG 0487 4
Palestine
Homozygous 		goto HGMD
(4)
LCA4 Ala 197 Pro GCC-CCC 0589 4
Morocco
max. 1/2 to no reduction in NUB1 interaction in Y2H assay
Compound:
  • Homozygous
goto HGMD
(4)
(1)
LCA4 Ile 206 Asn ATC-AAC 0617 5
1/5 -1/4 reduction in NUB1 interaction in Y2H-Assay

(1)
LCA4 Cys 239 Arg TGC-CGC 0715 5
European family
Conserved position in rat and human
1/5 -1/4 reduction in NUB1 interaction in Y2H-Assay
Compound:
  • Homozygous
goto HGMD 604392-0003 (3)
LCA4 Gly 262 Ser GGC-AGC 0784 5
7/8 - 8/9 reduction in NUB1 interaction in Y2H-Assay
Compound:
  • W278X
goto HGMD
(4)
(1)
LCA4 Trp 278 ter TGG-TGA 0834 6
7/8 reduction in NUB1 interaction in Y2H-Assay
Homozygous: 6 Pakistan, 4 European families
Severe keratoconus
  • Homozygous
  • Ala336del2bp
  • IVS2-2A-G
  • G262S
 goto HGMD 604392-0001 (3)
(2)
(1)
LCA4 Arg 302 Leu CGC-CTC 0905 6
7/8 reduction in NUB1 interaction in Y2H-Assay
India
Compound:
  • Homozygous
goto HGMD
(4)
LCA4 1010delAG CAGAGC-CAG__C 1010 6
European
Compound:
  • Trp 278 ter
goto HGMD 604392-0002 (3)
LCA4 Pro 376 Ser CCG-TCG 1126 6
African-American
Compound:
  • T124I
goto HGMD
(4)
Polymorphism Phe 37 Phe TTT/TTC 0111 1 AciI-


(3)
Polymorphism Ser 78 Ser TCC/TCT 0234 2



(4)
Polymorphism Cys 89 Cys TGC/TGT 0267 2



(3)
Polymorphism Leu 100 Leu CTG/CTA 0300 3 BsmFI+


(3)
Polymorphism His 172 His CAT/CAC 0516 4



(4)
Polymorphism Pro 217 Pro CCG/CCA 0651 4 StyI-


(3)
Polymorphism Asp 255 Asp GAT/GAC 0765 4



(4)

References

  1. Akey,D.T., Zhu,X., Dyer,M., Li,A., Sorensen,A., Blackshaw,S., Fukuda-Kamitani,T., Daiger,S.P., Craft,C.M., Kamitani,T., and Sohocki,M.M. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. 2002; Hum.Mol.Genet. 11: 2723-2733.
    Link to PubMed
    Goto Top

  2. Damji,K.F., Sohocki,M.M., Khan,R., Gupta,S.K., Rahim,M., Loyer,M., Hussein,N., Karim,N., Ladak,S.S., Jamal,A., Bulman,D., and Koenekoop,R.K. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. 2001; Can.J.Ophthalmol. 36: 252-259.
    Link to PubMed
    Goto Top

  3. Sohocki,M.M., Bowne,S.J., Sullivan,L.S., Blackshaw,S., Cepko,C.L., Payne,A.M., Bhattacharya,S.S., Khaliq,S., Qasim Mehdi,S., Birch,D.G., Harrison,W.R., Elder,F.F., Heckenlively,J.R., and Daiger,S.P. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 2000; Nat.Genet. 24: 79-83.
    Link to PubMed
    Goto Top

  4. Sohocki,M.M., Perrault,I., Leroy,B.P., Payne,A.M., Dharmaraj,S., Bhattacharya,S.S., Kaplan,J., Maumenee,I.H., Koenekoop,R., Meire,F.M., Birch,D.G., Heckenlively,J.R., and Daiger,S.P. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. 2000; Mol.Genet.Metab. 70: 142-150.
    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