ABCMdb

ABCA4 p.Val1743Ile

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Publications

PMID: 20661590 [PubMed] Zangerl B et al: "Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies."

No. Sentence Comment

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. Login to comment
80 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. Login to comment