【佳学基因检测】NGS疾病风险评估报告CRYGA突变，是什么意思？

基因检测的序列名称：

CRYGA

人体基因序列变化与疾病表征数据库中的基因代码：

1418

人体基因序列数据库中国际交流名称全称

crystallin gamma A

中国数据库中基因全称：

晶状体γA

基因检测报告英文版基因简介

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]

基因突变所影响的基因信息

晶状体蛋白分为两类：分类群特异性或酶和普遍存在。后者构成脊椎动物眼晶状体的主要蛋白质，并保持晶状体的透明度和折射率。由于晶状体中央纤维细胞在发育过程中失去细胞核，因此这些晶状蛋白被制成，然后在整个生命中保留下来，从而使它们成为极其稳定的蛋白质。哺乳动物晶状体晶状体被分为α，β和γ族。β和γ晶状体蛋白也被认为是超家族。α和β族进一步分为酸性和碱性基团。晶体蛋白中存在七个蛋白质区域：四个同源基序，一个连接肽以及N和C末端延伸。γ-晶状体蛋白是高度对称的单体蛋白的同质基团，通常缺乏连接肽和末端延伸。早期开发后，ು୔

国际国内该碱基基因序列的其他英语文字母简称：

CRY-g-A, CRYG1, CRYG5

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第2号染色体上。

基因解码对基因序列的精准定位

该基因序列在GRCh37版本中的起始位置坐标为：209025464；结束位置坐标为：209028366。该基因序列在GRCh38版本中的起始位置坐标为：208160740；结束位置坐标为：208163573。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。