Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600697 (gene)

Mendelian trait/disorder: unknown

Disease-related: 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.

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