S835I (p.Ser835Ile) variant of INSR (Insulin receptor)
S835I (p.Ser835Ile) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in RMS. The record also includes variant effect predictions, published literature, and structural context.
S835I (p.Ser835Ile) variant details
- p.Ser835Ile
- rs1135401739
- ClinVar RCV000496805
- UniProt VAR 079543
- Ensembl rs1135401739
- no classification for the single variant
- in RMS
- Missense
- MutPred 0.49
- ClinVar: no classification for the single variant (in RMS)
- EBI: Pathogenic (in RMS)
- UniProt: Pathogenic (in RMS)
- Structural context available
- Cited in: Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. (PMID 28765322)
- Cited in: INSR-Related Severe Insulin Resistance Syndrome. (PMID 29369573)