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Hello
I am paused at a part in my project of analysing a genome for a rare neurological presentation (extremely rare- prevalence of only a few in the literature). The rare part being the symptom which is visual in nature, the neuroradiological etiology being very common in neurological disorders- white matter degradation.
Ive found a gene of particular interest. The mutations in this gene are all indels. No SNP, no CNV.
To work out whether its likely pathological i need to work out if the change leads to a loss or gain of a cysteine residue within one of the EGFRs of NOTCH3 extracellular domain.
Ive found 7 mutations within the 23 exons which code for the epidermal growth factor-like repeat domains im wondering if someone could please give me an indication as to how i advance further on this to work out if they lead to a loss or gain of cysteine residue
Thanks
Mikey
I am paused at a part in my project of analysing a genome for a rare neurological presentation (extremely rare- prevalence of only a few in the literature). The rare part being the symptom which is visual in nature, the neuroradiological etiology being very common in neurological disorders- white matter degradation.
Ive found a gene of particular interest. The mutations in this gene are all indels. No SNP, no CNV.
To work out whether its likely pathological i need to work out if the change leads to a loss or gain of a cysteine residue within one of the EGFRs of NOTCH3 extracellular domain.
Ive found 7 mutations within the 23 exons which code for the epidermal growth factor-like repeat domains im wondering if someone could please give me an indication as to how i advance further on this to work out if they lead to a loss or gain of cysteine residue
Thanks
Mikey