Literature summary for 3.4.24.B15 extracted from

BinEssa, H.; Zou, M.; Al-Enezi, A.; Alomrani, B.; Al-Faham, M.; Al-Rijjal, R.; Meyer, B.; Shi, Y.
Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets (2019), Bone, 125, 186-193 .

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Cloned(Commentary)

Cloned (Comment)	Organism
expression in HEK.293 cell	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	creation and analysis of splice-site mutations. Among 22 splice-site mutations, exon skipping accounts for 73% (16/22). Non-canonical splice-site mutations can result in splicing errors to the same extent as canonical splice-site mutations such as c.436+3G>C, c.436+4A>C, c.436+6T>C, c.437-3C>G, c.850-3C>G, c.1080-3C>A, c.1482+5G>C, c.1586+6T>C, c.1645+5G>A, c.1645+6T>C, c.1701-16T>A, c.1768+5G>A, and c.1899+5G>A. Non-canonical (c.436+6T>C and c.1586+6T>C) and canonical splice-site mutations (c.1769-1G>C) can generate partial splicing errors (both wild-type and mutant transcripts are detected), resulting in incomplete inactivation of PHEX gene. Mutation c.1645C>T (p.R549*) has no impact on pre-mRNA splicing	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P78562	-	-

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Release 2023.1 (January 2023)