ABCA4 p.Lys1148Thr
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PMID: 11379881
[PubMed]
Yatsenko AN et al: "Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."
No.
Sentence
Comment
90
In family AR632, individuals -04 and -05 have two ABCR alterations in exon 23 (R1129L and a novel mutation K1148T, 3443A→C) located between the first Walker B motif and a second transmembrane region of ABCR (Fig.2).
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ABCA4 p.Lys1148Thr 11379881:90:107
status: NEW93 N, C Amino or carboxy termini, asterisk novel missense ABCR mutation, bold numbers beginning and end of predicted functional motifs K1148T and the affected mother (onset at 49 years) carries the mutation R1129L.
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ABCA4 p.Lys1148Thr 11379881:93:133
status: NEW94 Affected siblings (onset at 11 and 32 years) are compound heterozygotes for mutations K1148T and R1129L.
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ABCA4 p.Lys1148Thr 11379881:94:86
status: NEW