ABCD1 p.Arg152Pro
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PMID: 11748843
[PubMed]
Kemp S et al: "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."
No.
Sentence
Comment
297
In case different missense mutations were found in a single amino acid residue, like R152S, R152C, R152P, and R152L, only one was counted.
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ABCD1 p.Arg152Pro 11748843:297:99
status: NEW
PMID: 7825602
[PubMed]
Ligtenberg MJ et al: "Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein."
No.
Sentence
Comment
85
The mutation T1045C created a novel HpaII site, which was confirmed Table 2 Mutations in the Putative ALD Gene in Patients Studied Genomic- Kindred Type of Mutation and Amino Acid Genomic-PCR Mutation Reference cDNA Alterationa Alterationb Exonc Primers Detectiond Phenotype' Number Missense: C696Tf ................ R104C (R) 1 303F + 821R 303F, 821R AMN 17 G832A ................ S149N (N) 1 702F + 1145R 702F, 931R AMN 8 G841C ................ R152P (K) 1 702F + 1145R 702F, 931R ChALD 27 G874Af ................ R163H (R) 1 702F + 931R 702F, 931R SympCar 14 G966C ................ D194H (D) 1 685F + 1145R 914F, 1145R ChALD 12 T1045C ................ L220P (L) 1 914F + 1145R HpaII AMN 7 G1182A ................. G266R (G) 1 702F + 1231R 914F,1231R AMN 24 G1552A ................. R389H (R) 3 1479F + 1861R 1479F,1752R AMN 20 (2X): G2211A................. E609K(E) 8 544F*+ 1078R*h 544F*, 876R* AMN 13,18 A2212G ................ E609G (E) 8 544F*+ 1078R*h 544F*, 876R* ChALD 5 C2235Tf................ R617C (R) 8 544F* + 2742R 544F*, 876R* ChALD 23 C2364Tf................ R660W (R) 9 544F* + 2742R 2312F, 1078R* AMN 21 Amino acid deletion: del 2355-2357 ........... del 1657(V) 9 849F* + 2478Rh 2312F,1078R* ChALD 6 Nonsense: C783Tf ................ Q133h 1 702F + 931R 702F, 931R ChALD 26 G797A ................ W137h 1 685F +1145R 702F,931R ChALD 10 C855T ................ Q157h 1 702F + 1145R 702F,931R AMN 9 C929A ................ Y181h 1 702F + 1145R HpaIl ChALD 15 Frameshift: delC442 ................ A19> 1 303F + 821R 303F,593R ChALD 2 del C663 ................ G92> 1 303F + 840R 576F, 821R ChALD 22 dell71-1178 ........... F261> 1 702F + 1231R 914F,1231R ChALD 28 (4X): del 1801-1802 ........... E471> 5 1781F + 1861R Polyacrylamide gel ChALD, AMN 3,4,16,25 alt 1989-2377 ........... P534> 6-9 1890F +2669R 1890F,1078R* AMN 11 Splice defect: de12021-2054 ........... R545> SA 7 1880F +2132R 1880F,2114R ChALD 1 ins 8 bp 2251f ............ R622> SA 9 849F* + 1078R*h 849F*, 1078R* AMN 19 a Nucleotide numbers refer to Mosser et al. (1993), EMBL database Z21876.
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ABCD1 p.Arg152Pro 7825602:85:450
status: NEW