|| Carrier of a possible mutation causing multiple sclerosis and malignant melanoma
|| Multiple sclerosis/malignant melanoma mutation genotype
, also known as c.1732G>A, p.Gly578Ser and G578S, represents a rare mutation in the NLRP1
gene on chromosome 17.
Based on exome sequencing of a family with two sibs affected by multiple sclerosis and malignant melanoma, a 2017 publication concluded that when inherited recessively, the rs115799546(T) allele (in dbSNP orientation) may cause both conditions.[PMID 28623311]