Rs121908287

rs121908287, also known as I41T, is a SNP in the FIG4 gene that encodes a variation for an amino acid that is normally conserved in many species (from yeast to humans). The common allele is rs121908287(T), encoding the isoleucine at this position; the very rare rs121908287(C) encodes a threonine.

rs121908287(C) apparently gives rise to a partial loss of function that is pathogenic in combination with a null allele of FIG4, leading these compound heterozygotes to Charcot-Marie-Tooth disease, Type 4J (OMIM 611228).