ABCA4 p.Val1743Ile
| Predicted by SNAP2: | A: N (61%), C: N (66%), D: D (66%), E: N (57%), F: N (53%), G: D (66%), H: N (57%), I: N (87%), K: D (59%), L: N (82%), M: N (72%), N: D (53%), P: D (59%), Q: N (57%), R: D (59%), S: N (53%), T: N (72%), W: D (80%), Y: D (53%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D, |
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[hide] Identification of genetic variation and haplotype ... Mol Genet Genomics. 2010 Oct;284(4):243-50. Epub 2010 Jul 27. Zangerl B, Lindauer SJ, Acland GM, Aguirre GD
Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.
Mol Genet Genomics. 2010 Oct;284(4):243-50. Epub 2010 Jul 27., [PMID:20661590]
Abstract [show]
Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. The disease mechanisms, and genotype-phenotype associations, nonetheless, remain elusive in many cases. As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. However, the size of the gene and lack of haplotype assignment significantly limit targeted association and/or linkage approaches. This study assessed the naturally observed sequence diversity of ABCA4 in the dog, identifying 80% of novel variations. While none of the observed polymorphisms have been associated with blinding disorders to date, breed and potentially disease specific haplotypes have been identified. Moreover, a tag SNP map of 17 (15) markers has been established that accurately predicts common ABCA4 haplotypes (frequency > 5%) explaining >85% (>80%) of the observed genetic diversity and will considerably advance future studies. Our sequence analysis of the complete canine ABCA4 coding region will clearly provide a baseline and tools for future association studies and comparative genomics to further delineate the role of ABCA4 in canine blinding disorders.
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78 Focusing on the ABCA4 coding region only, Table 3 Nucleotide changes observed in canine ABCA4 coding region and comparison to the human (NM_000350) and rhesus macaque (XR_012919.1) gene Canine ABCA4 Human ABCA4 Rhesus ABCA4 Locationa Exon Nucleotide change aa Nucleotide aa Nucleotide aa 58124194 4 c.303 T [ C Thr101Thr C Thr101 C Thr101 58124332 4 c.441 G [ A Ala147Ala A Ala147 A Ala147 58134085 6 c.588 T [ A Pro196Pro G Pro196 G Pro196 58150351 8 c.867 T [ C His289His T His289 T Arg289 58167425 12 c.1581 C [ T Ser527Ser C Ser527 C Ser527 58168353 13 c.1880 A [ C Glu627Ala A Glu627 A Glu627 58180284 17 c.2602 C [ G Pro868Ala C Pro868 C Pro868 58198327 27 c.3958 G [ A Ala1320Thr C Pro1322 C Pro1322 58201657 29 c.4254 A [ G Pro1418Pro A Pro1422 G Pro1422 58201666 29 c.4263 G [ A Glu1421Glu G Glu1425 G Glu1425 58201675 29 c.4272 A [ G Ala1424Ala G Thr1428 G Thr1428 58202589 30 c.4368 T [ C Pro1456Pro C Pro1460 C Pro1460 58202694 30 c.4473 G [ A Lys1491Lys G Lys1495 G Lys1495 58202718 30 c.4497 T [ C Pro1499Pro C Pro1503 C Pro1503 58207023 31 c.4548 A [ G Glu1516Glu A Glu1520 A Glu1520 58207091 31 c.4616 G [ A Arg1539Gln G Arg1543 G Arg1543 58216455 37 c.5227 G [ A Val1743Ile A Ile1747 A Ile1747 Changes leading to substitutions in the amino acid (aa) sequence are highlighted a Based on CFA6 of UCSC server canine genomic sequence v.
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ABCA4 p.Val1743Ile 20661590:78:1180
status: NEW80 Focusing on the ABCA4 coding region only, Table 3 Nucleotide changes observed in canine ABCA4 coding region and comparison to the human (NM_000350) and rhesus macaque (XR_012919.1) gene Canine ABCA4 Human ABCA4 Rhesus ABCA4 Locationa Exon Nucleotide change aa Nucleotide aa Nucleotide aa 58124194 4 c.303 T [ C Thr101Thr C Thr101 C Thr101 58124332 4 c.441 G [ A Ala147Ala A Ala147 A Ala147 58134085 6 c.588 T [ A Pro196Pro G Pro196 G Pro196 58150351 8 c.867 T [ C His289His T His289 T Arg289 58167425 12 c.1581 C [ T Ser527Ser C Ser527 C Ser527 58168353 13 c.1880 A [ C Glu627Ala A Glu627 A Glu627 58180284 17 c.2602 C [ G Pro868Ala C Pro868 C Pro868 58198327 27 c.3958 G [ A Ala1320Thr C Pro1322 C Pro1322 58201657 29 c.4254 A [ G Pro1418Pro A Pro1422 G Pro1422 58201666 29 c.4263 G [ A Glu1421Glu G Glu1425 G Glu1425 58201675 29 c.4272 A [ G Ala1424Ala G Thr1428 G Thr1428 58202589 30 c.4368 T [ C Pro1456Pro C Pro1460 C Pro1460 58202694 30 c.4473 G [ A Lys1491Lys G Lys1495 G Lys1495 58202718 30 c.4497 T [ C Pro1499Pro C Pro1503 C Pro1503 58207023 31 c.4548 A [ G Glu1516Glu A Glu1520 A Glu1520 58207091 31 c.4616 G [ A Arg1539Gln G Arg1543 G Arg1543 58216455 37 c.5227 G [ A Val1743Ile A Ile1747 A Ile1747 Changes leading to substitutions in the amino acid (aa) sequence are highlighted a Based on CFA6 of UCSC server canine genomic sequence v.
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ABCA4 p.Val1743Ile 20661590:80:1180
status: NEW