Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600697 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: unknown

Species-specific description: Surati et al. (2023) used bioinformatic tools to analyse ddRAD sequence data from 10 Shaiwal animals to predict deleterious DNA mutations in absence of records of genetic disease: "A total of 18 SNPs, were finally identified as deleterious, and among these, 12 SNPs were mapped on nine different genes. ERRAT, ProSA-web, Project HOPE, TM-Align, and YASSARA tools, further confirmed the protein malfunctioning of one missense (L290V) mutation of Retinoblastoma binding protein-5 (RBBP5) gene, transcribing a cell cycle regulatory protein and associated with Retinoblastoma in human."

Molecular basis: The in silico identified RBBP5 missense variant (rs516378737) identified by Surati et al. (2023) is located on chr16:2878780 G > C (ARS-UCD1.2) and the predicted change to the RBBP5 protein is p.(L290V). As the study was restricted to in silico DNA analysis it is unknown if the variant causes phenotypic change.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Sahiwal (Cattle) (VBO_0000365).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below