Variant: rs121434241 

    present in Gene: PRPF3
    present in Chromosome: 1
    Position on Chromosome: 150344216
    Alleles of this Variant: C/T

rs121434241 in PRPF3 gene and Retinitis Pigmentosa 18 PMID 12714658 2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

PMID 11773002 2002 Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

PMID 17932117 2008 Our findings provide new insights into the biology of Hprp3p and suggest that the loss of Hprp3p phosphorylation at Thr494 is a key step for initiating Thr494Met aberrant interactions within U4/U6 snRNP complex and that these are likely linked to the RP18 phenotype.