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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P27635: Variant p.Ser202Asn

Large ribosomal subunit protein uL16
Gene: RPL10
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Variant information Variant position: help 202
Type of variant: help LB/B
Residue change: help From Serine (S) to Asparagine (N) at position 202 (S202N, p.Ser202Asn).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help Rescues embryonic brain development when expressed in a zebrafish heterologous system.
Other resources: help


Sequence information Variant position: help 202
Protein sequence length: help 214
Location on the sequence: help EDMVAEKRLIPDGCGVKYIP S RGPLDKWRALHS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 214 Large ribosomal subunit protein uL16
Cross 188 – 188 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)



Literature citations
QM, a putative tumor suppressor, regulates proto-oncogene c-Yes.
Oh H.S.; Kwon H.; Sun S.K.; Yang C.-H.;
J. Biol. Chem. 277:36489-36498(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASN-202; Loss of heterozygosity and microsatellite instability at the Xq28 and the A/G heterozygosity of the QM gene are associated with ovarian cancer.
Shen X.J.; Ali-Fehmi R.; Weng C.R.; Sarkar F.H.; Grignon D.; Liao D.J.;
Cancer Biol. Ther. 5:523-528(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASN-202; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASN-202; A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Brooks S.S.; Wall A.L.; Golzio C.; Reid D.W.; Kondyles A.; Willer J.R.; Botti C.; Nicchitta C.V.; Katsanis N.; Davis E.E.;
Genetics 198:723-733(2014)
Cited for: VARIANT MRXS35 GLU-78; CHARACTERIZATION OF VARIANT MRXS35 GLU-78; INVOLVEMENT IN MRXS35; VARIANT ASN-202; CHARACTERIZATION OF VARIANTS ASN-202; MET-206 AND GLN-213; FUNCTION;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.