RPL35A Chromosome 3

Ribosomal protein L35a
13 variants 13 Health Risk

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What This Gene Does
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000182899
Associated Conditions (3)
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia
RPL35A-related disorder
Key Variants
All Variants (13)
RSID Category Clinical Significance Conditions
RS116840807 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS2530415049 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 5, Diamond-Blackfan anemia
RS541454864 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 5, Diamond-Blackfan anemia, RPL35A-related disorder
RS772084930 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS113752862 Health Risk Likely pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS1720051488 Health Risk Likely pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS2530430943 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS116840808 Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS116840809 Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS1553811551 Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS1560120302 Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia, Diamond-Blackfan anemia 5
RS1581106084 Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS2530415161 Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
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