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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Figure 4

Analysis of ARID1B in the patient cohort. The protein domain organisation of ARID1B and the position of the four mutations identified by sequencing are shown. The forward and reverse sequencing traces demonstrate the NM_020732.3(ARID1B):c.3208_3209delAA (p.(Lys1070Alafs*47)) mutation in patient 2 (A), the NM_020732.3(ARID1B):c.2306_2308delCCGinsTCCGCAGCCACTCC (p.(Pro769Leufs*17)) mutation in patient 3 (B), the NM_020732.3(ARID1B):c.4273dupT (p.(Tyr1425Leufs*34)) mutation in patient 4 (C) and the NM_020732.3(ARID1B):c.2941C > T (p.(Gln981*)) mutation in patient 5 (D). Where available, the forward sequencing trace for the parents is also shown. Mutation co-ordinates are derived from refseq NM_020732.3.

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