In 5 affected members of a 3-generation family segregating autosomal dominant hyperprolactinemia (HPRL; 615555), Newey et al. (2013) identified heterozygosity for a c.635A-G transition in the PRLR gene, resulting in a his188-to-arg (H188R) substitution at a highly conserved residue in the extracellular domain, located at the interface of the ...

Jan 4, 2010 · All of the 6 populations were found to be homozygous for the G188, G292, A683, G970, G1013 and C1084 alleles at SNP R23I, A58del, H188R, V284M, R298L and Q322Term, respectively, as shown in Table 2.

This section displays a table of mutated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED.

Jan 8, 2019 · In the proband of a 3-generation family segregating autosomal dominant hyperprolactinemia, who was known to be negative for mutation in the MEN1 (613733), AIP (605555), and PRL (176760) genes, Newey et al. (2013) identified heterozygosity for a missense mutation in the PRLR gene (H188R; 176761.0002).

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Transcripts from the Matched Annotation from the NCBI and EMBL-EBI ( MANE) collaboration. Links to Variation Viewer, a genome browser to view variation data from NCBI databases. The haploinsufficiency score for the gene, curated by ClinGen’s Dosage …

Sep 1, 2015 · Prolactin functions by binding cell-surface expressed prolactin receptor, initiating signaling cascades, primarily utilizing Janus kinase-signal transducer and activator of transcription (JAK-STAT). Pathway disruption has been implicated in tumorigenesis, reproductive abnormalities, and diabetes.

Mar 1, 2015 · The variants H188R (in the ECD) and F255S (in the ICD) had reduction in pSTAT5 and CISH reporter activity, consistent with PRLR loss-of-function.

Apr 14, 2024 · I146L variant (in the ECD) had only increased pSTAT5, consistent with PRLR gain-of-function. The variants H188R (in the ECD) and F255S (in the ICD) had reduction in pSTAT5 and CISH reporter activity, consistent with PRLR loss-of-function. However, the

Jan 1, 2014 · Of the ICD variants, F255S resulted in a significant decrease in activity equivalent to that of H188R, whilst G263D and E554Q demonstrated a significant but less pronounced …