ABCMdb

PMID: 20661590

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., [PubMed]

Sentences

No. Mutations Sentence Comment

78 ABCA4 p.Val1743Ile ABCA4 p.Glu627Ala ABCA4 p.Pro868Ala 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 ABCA4 p.Val1743Ile ABCA4 p.Glu627Ala ABCA4 p.Pro868Ala 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