ABCA4 p.Met1419Thr
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PMID: 19339744
[PubMed]
Singh HP et al: "Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening."
No.
Sentence
Comment
117
This change leads to premature truncation of the ABCA4 protein and is predicted to result in complete loss of two ATP binding domains: partial loss of the first and second transmembrane domains.8 Among the other variants found in ABCA4, one novel missense change Met1419Thr (c.4256TϾC) was found (Table 3) that leads to abolition of one of the restriction sites for NlaIII in the 229-bp PCR product of exon 29 of ABCA4.
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ABCA4 p.Met1419Thr 19339744:117:263
status: NEW119 Five (4.8%) of 105 control individuals were heterozygous for Met1419Thr, suggesting that it is a polymorphic variant.
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ABCA4 p.Met1419Thr 19339744:119:61
status: NEW130 Novel Changes of Unknown Significance Identified in Families with ARRP Family Gene Location Change in cDNA, Protein RP126 CRB1 Exon 8 c.2715GϾA, p.Arg905Arg RP213 ABCA4 Exon 29 c.4256TϾC, p.Met1419Thr RP119 PDE6B Intron 10 c.1401ϩ31CϾA RP119 PDE6B Intron 17 c.2130-15GϾA RP160 RGR Exon 2 c.123CϾT, p.Phe41Phe RP184 RGR Intron 6 c.760-38CϾT FIGURE 1.
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ABCA4 p.Met1419Thr 19339744:130:202
status: NEW
PMID: 17296903
[PubMed]
Downs K et al: "Molecular testing for hereditary retinal disease as part of clinical care."
No.
Sentence
Comment
86
Novel Sequence Changes Gene* Nucleotide Change Amino Acid Change Potentially Pathogenic Changes ABCA4 164A → C H55P 611G → A A204T 868C → T R290W 1699G → A V567M 1726G → C D576H 1817G → A G606A 1964T → G L725I 2173C → A F655C 2297G → A G766D 2385C → G S795R 2401G→ A A801T 3076T → C F1026L 3138T → G L1046W 3414T → C L1138P 4256T → C M1419T 4535C → A P1512H 4849G → A V1617M 4870T → G W1624G 5026A → C T1676P IVS36 - 3G→ C Splice site change 5701C → A F1900L 5885T → A V1962D 6718A → G T2240A IVS42 ϩ 1G → A Intronic change RDS 667G → C C222S VMD2 174A → G Y29C 660T → C L191P 738G → T L217F 948G → A W287X 974A → G N296D Potentially Neutral Polymorphic Changes or Changes of Uncertain Significance ABCA4 320C → A R107R 1692A → G P562P 2823T → C C941C 4869C → G G1623G 5318C → T A1773V† 5390T → C C1797C IVS15 - 13T → C Intronic change IVS24 ϩ 46A → T Intronic change IVS35 ϩ 8G → A Intronic change IVS40 - 35A → C Intronic change IVS47 ϩ 29T → C Intronic change IVS50 - 131ins/del Intronic change EFEMP1 399C → A G133G RDS IVS3 ϩ 13C → T Intronic change *The genes are described in the second footnote to Table 1.
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ABCA4 p.Met1419Thr 17296903:86:424
status: NEWX
ABCA4 p.Met1419Thr 17296903:86:439
status: NEW