Cross-species sequence alignment revealed that the Trp182 residue is highly conserved. Structural modeling indicated that the Trp to Arg substitution alters the local side chain conformation. Function

DataCite Commons2026-03-11 更新40

Supplementary Material for: A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger

肾小管酸中毒

基因突变功能

Hereditary forms of distal renal tubular acidosis (dRTA) are rare and mainly caused by mutations in ATP6V1B1, ATP6V0A4 and SLC4A1. About 20 mutations in SLC4A1 gene have been found that are related to

Figshare2018-12-14 更新20

Heterozygous and homozygous knock-in of PIK3CA-H1047R into human iPSCs

基因突变功能

转录组剂量效应

We used CRISPR/Cas9 to knock in the cancer "hotspot" mutation PIK3CA-H1047R into one or both alleles of a wild-type induced pluripotent stem cell (iPSC) line (WTC11; Coriell # GM25256; P37-P38). Three

NIAID Data Ecosystem70

Novel genetically engineered mouse models for clear cell renal cell carcinoma with somatic mutations in Bap1, Pbrm1 and Setd2. Novel genetically engineered mouse models for clear cell renal cell carcinoma with somatic mutations in Bap1, Pbrm1 and Setd2

肾透明细胞癌

基因突变功能

Kidneys from our advanced GEMMs of early stage cancer renal cancers contain low frequent somatic mutations in Bap1, Pbrm1 and Setd2, enhanced immune clearance and activation of the DNA damage response

NIAID Data Ecosystem30

Raw Data for "A single point mutation in the Plasmodium falciparum ftsh1 metalloprotease confers actinonin resistance."

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