ABCMdb

PMID: 24618324

Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Suriyaphol P, Trinavarat A, Atchaneeyasakul LO
Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2259-68. doi: 10.1167/iovs.13-13567., [PubMed]

Sentences

No. Mutations Sentence Comment

70 ABCA4 p.Arg24His For the ABCA4 gene, a single known heterozygous mutation reported in a patient with Stargardt disease type 1,20 c.71G>A (p.Arg24His), was detected. Login to comment 107 ABCA4 p.Arg24His Variants Identified in the RP Patients Sample MOI in Family Gene MOI of Gene Variant Detected Reference Chr Exon Nucleotide Change Amino Acid Change State Domain Potentially pathogenic mutations RP009 Isolated RP USH2A arRP 1 4 c.773A>C p.Gln258Pro Het - Novel USH2A 1 22 c.4732C>T p.Arg1578Cys Het Laminin G-like 1 Reported 19 RP011 Isolated RP EYS arRP 6 8 c.1260_1260delG p.Asn421Metfs*8 Het - Novel EYS 6 31 c.6416G>A p.Cys2139Tyr Het EGF-like 21 Reported 31 RP019 Isolated RP EYS arRP 6 31 c.6416G>A p.Cys2139Tyr Hom EGF-like 21 Reported 31 RP022 Isolated RP CRB1 arRP and arLCA 1 9 c.3442T>C p.Cys1148Arg Hom EGF-like 15 Novel RP023 arRP CRB1 arRP and arLCA 1 7 c.2539T>A p.Phe847Ile Hom Laminin G-like 2 Novel RP027 Isolated RP EYS arRP 6 42 c.8107G>T p.Glu2703Ter Hom - Novel RP038 Isolated RP C8orf37 arRP and arCRD 8 Intron 2 c.243&#fe;2T>C splice site change Hom - Novel RP069 arRP PROM1 arRP and adCRD 4 4 c.442A>T p.Lys148Ter Hom Cytoplasmic Novel RP087 xlRP RP2 xlRP X 2 c.395_419delCCACTCAA p.Thr133Glnfs*15 Hem C-CAP/cofactor C-like Novel CCCATCATTGAGTCTTC Additional heterozygous variants RP009 Isolated RP ABCA4 arRP and arCRD 1 2 c.71G>A p.Arg24His Het Transmembrane Reported 20 RD3 arLCA 1 2 c.94_95delG p.Glu32Serfs*2 Het Coiled coil Novel RP022 Isolated RP GUCY2D adCRD and arLCA 17 4 c.1138C>T p.Arg380Cys Het Extracellular Novel RP038 Isolated RP ROM1 adRP 11 1 c.339_340insG p.Leu114Alafs*18 Het Transmembrane Reported 22-24 TULP1 arRP and arLCA 6 1 c.43G>A p.Asp15Asn Het - Novel Variants of uncertain significance RP010 Isolated RP NR2E3 arRP and adRP 15 4 c.424C>T p.Arg142Trp Het - Novel RP016 Isolated RP FSCN2 adRP 17 4 c.1264C>T p.Arg422Trp Het Fascin-2 Novel Nucleotide numbering reflects cDNA numbering with position 1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according to journal guidelines (provided in the public domain by The Human Genome Variation Society, http://www.hgvs.org/mutnomen). Login to comment 112 ABCA4 p.Arg24His Summary of Variant Prediction Using Six Different Tools Sample Gene Amino Acid Change Prediction Tool* Familial Alleles in Controlߤ Vertebrate PolyPhen-2 SIFT VarioWatch MutationTaster PMut SNAP Segregation Chromosomes Conservationߥ Potentially pathogenic mutations RP009 USH2A p.Gln258Pro Probably damaging Damaging High Disease causing Neutral Non-neutral NA 0/224 Yes USH2A p.Arg1578Cys Possibly damaging Damaging High Disease causing Neutral Non-neutral NA NA&#a7; Yes RP011 EYS p.Asn421Metfs*8 - - - Disease causing - - Yes NA Yes EYS p.Cys2139Tyr Probably damaging Damaging High Polymorphism Pathological Non-neutral Op NA&#a7; Yes RP019 EYS p.Cys2139Tyr Probably damaging Damaging High Polymorphism Pathological Non-neutral Yes NA&#a7; Yes RP022 CRB1 p.Cys1148Arg Probably damaging Damaging High Disease causing Pathological Non-neutral Yes 0/242 Yes RP023 CRB1 p.Phe847Ile Possibly damaging Tolerated High Polymorphism Neutral Non-neutral NA 0/224 Yes RP027 EYS p.Glu2703Ter - - Very high Disease causing - - NA NA Yes RP038 C8orf37 Splice site change - - - Disease causing - - Yes NA - RP069 PROM1 p.Lys148Ter - - Very high Disease causing - - Yes NA Yes RP087 RP2 p.Thr133Glnfs*15 - - - Disease causing - - Yes NA Yes Additional heterozygous variants RP009 ABCA4 p.Arg24His Probably damaging Tolerated High Disease causing Pathological Non-neutral NA&#a7; Yes RD3 p.Glu32Serfs*2 - - - Disease causing - - - NA Yes RP022 GUCY2D p.Arg380Cys Probably damaging Damaging High Disease causing Neutral Neutral Opo 0/220 Yes RP038 ROM1 p.Leu114Alafs*18 - - - Disease causing - - Op 2/240 Yes TULP1 p.Asp15Asn Probably damaging Tolerated High Polymorphism Neutral Non-neutral Opo 0/232 Yes Variants of uncertain significance RP010 NR2E3 p.Arg142Trp Possibly damaging NA NA Disease causing Pathological Non-neutral NA 0/236 Yes RP016 FSCN2 p.Arg422Trp Possibly damaging Tolerated High Polymorphism Pathological Non-neutral NA 0/224 No NA, not available; Op, observed in proband only; Opo, observed in proband and other(s). Login to comment