ABCMdb

ABCA4 p.Tyr954Ser

None has been submitted yet.

Publications

PMID: 19959634 [PubMed] Aguirre-Lamban J et al: "Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene."

No. Sentence Comment

64 Except p.Arg187His and p.Tyr954Ser variants, the rest of changes were previously reported as disease-associated allele.14 The p.Arg187His and p.Tyr954Ser variants were not found in 100 ethnically matched control chromosomes. Login to comment
81 The p.Tyr954Ser variant had not been reported and was not found in 100 ethnically matched control chromosomes. Login to comment
87 Mutations Analyzed Family Exon Genotype Mutation Detected by dHPLC Mutation Detected by HRM Nucleotide Change Amino Acid Change ARDM-167 5 c.560G>A p.Arg187His No Yes ARDM-257 5 c.560G>A p.Arg187His No Yes ARDM-164 6 c.700CϾT p.Gln234X Yes Yes ARDM-135 8 c.1029_1030insT p.Asn344fsX Yes No ARDM-240 15 c.2285CϾA p.Ala762Glu Yes Yes ARDM-248 19 c.2861A>C p.Tyr954Ser Yes Yes ARDM-90 - IVS21-2AϾT - Yes Yes ARDM-40 27 c.3943CϾT p.Gln1315X Yes Yes ARDM-158 30 c.4537delC p.Gln1513fsX1525 Yes Yes ARDM-38 33 c.4739delT p.Leu1580fs Yes Yes ARDM-163 36 c.5172GϾT p.Trp1724Cys Not Yes ARDM-197 36 c.5172GϾT p.Trp1724Cys Yes Yes ARDM-181 - IVS38ϩ5GϾA - Yes Yes ARDM-125 40 - p.KNLFA1876dup Yes Yes ARDM-183 43 c.5929GϾA(False-) p.Gly1977Ser(False-) Yes Yes ARDM-146 44 c.6140TϾA p.lle2047Asn Yes Yes ARDM-174 - IVS44ϩ2TϾA - Yes Yes ARDM-247 47 c.6410GϾA p.Cys2137Tyr* Yes Yes ARDM-84 47 c.6410GϾA p.Cys2137Tyr† No Yes ARDM-225 48 c.6559CϾT p.Gln2187X Yes Yes Previously unreported mutations are shown in bold. Login to comment
109 The p.Tyr954Ser variant was not found in 100 ethnically matched control chromosomes, suggesting the presence of a disease-associated allele. Login to comment
61 Except p.Arg187His and p.Tyr954Ser variants, the rest of changes were previously reported as disease-associated allele.14 The p.Arg187His and p.Tyr954Ser variants were not found in 100 ethnically matched control chromosomes. Login to comment
78 The p.Tyr954Ser variant had not been reported and was not found in 100 ethnically matched control chromosomes. Login to comment
95 The p.Tyr954Ser variant was not found in 100 ethnically matched control chromosomes, suggesting the presence of a disease-associated allele. Login to comment