ABCMdb

PMID: 23776498

Huang L, Zhang Q, Li S, Guan L, Xiao X, Zhang J, Jia X, Sun W, Zhu Z, Gao Y, Yin Y, Wang P, Guo X, Wang J, Zhang Q
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
PLoS One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone.0065546. Print 2013., [PubMed]

Sentences

No. Mutations Sentence Comment

75 ABCA4 p.Arg653Cys Family ID Gene Variations Status Bioinformation analysis Allele frequency in Reference DNA Protein SIFT Polyphen-2 Splice Phastcons _score patients controls Family 1 ABCA4 c.4604dup p.T1537Nfs*18 hetero - - - 0.997 1/94 0/384 novel Family 1 ABCA4 c.1957C.T p.R653C hetero D PD - 1.000 1/94 NA [38] Family 2 CNGB3 c.1774dup p.E592Gfs*44 homo - - - 1.000 2/94 0/384 novel Family 3 CNGB3 c.129+1G.A - homo - - DSA 1.000 2/94 0/384 novel Family 4 CNGB3 c.2415A.C p.E805D hetero D PD - 1.000 1/94 NA rs186448979# Family 4 CNGB3 c.1957G.A p.A653T hetero tolerated benign - 0.000 1/94 0/384 novel Family 5 PDE6C c.1935+1del - hetero - - DSA 1.000 1/94 0/384 novel Family 5 PDE6C c.2518+5G.C NA hetero - - DSA 0.112 1/94 0/384 novel Family 6 PDE6C c.1004+1G.A - homo - - DSA 1.000 2/94 0/384 novel Family 7 RPGRIP1 c.2592T.G p.Y864* hetero - - - 0.994 1/94 0/384 novel Family 7 RPGRIP1 c.799C.T p.R267* hetero - - - 1.000 1/94 NA [36] Family 8 CACNA1F c.2542G.A p.G848S hemi tolerated benign - 1.000 1/94 0/384 novel Family 9 RPGR c.785C.G p.A262G hemi tolerated benign - 0.002 1/94 NA [39] Family10 RPGR c.2447_2461del p.G816_E820del hemi - - - NA 1/94 NA [40] Note: D = damaging; PD = probably damaging; DSA = donor site abolished. Login to comment