<i>PCSK5</i> variants and corresponding phenotypes in fetal cases with VACTERL association.

PCSK5 variants detected in this study and corresponding phenotypes presented together with PCSK5 variants and phenotypes reported by Szumska et al [18]. Aa-residue numbering according to UniProtKB PCSK5 accession nr Q92824 (aa-numbering used by Szumska et al. shown beneath in parentheses), GT freq. genotype frequency, - not present, na not analysed, ns not stated, *Currarino syndrome diagnosis (MNX1 status not reported), †sacral agenesis, 1patients reported by Szumska et al., 2present also in two healthy sisters with heterozygous and homozygous variants respectively.本研究中检测到的PCSK5（前蛋白转化酶枯草杆菌蛋白酶/kexin 5型，Proprotein Convertase Subtilisin/Kexin Type 5）变异体及其对应表型，与Szumska等[18]报道的PCSK5变异体及表型一并呈现。氨基酸残基编号参照UniProt知识库（Universal Protein Resource Knowledgebase）中PCSK5的登录号Q92824（Szumska等所用的氨基酸残基编号以括号形式标注于下方）；GT freq.：基因型频率（genotype frequency）；-：未检出；na：未分析；ns：未注明；*：库拉瑞诺综合征（Currarino syndrome）诊断（MNX1基因状态未予报道）；†：骶骨发育不全（sacral agenesis）；1：Szumska等报道的患者；2：该变异同时存在于两位分别携带杂合变异与纯合变异的健康姐妹中。