mutation | Mutation | BRCA mutation | The Next Mutation | Mutation rate | Germanic a-mutation | Dilute budgerigar mutation | ''BRCA'' mutation |
Many mutations have been found in the gene coding for D-BP(HSD17B4)on the q arm two of chromosome five (5q2) in Homo sapiens, most notably individuals homozygous for a missense mutation (616S).
DNA sequencing revealed that the affected foal was homozygous for a missense mutation in the gene encoding CLCN1, a protein which regulates the excitability of the skeletal muscle.
A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis (cHSP).