Define AND describe all the SNP indel variant consequences l

Define AND describe all the SNP/ indel variant consequences listed below:

1. Initiator codon variant

2. Intergenic variant

3. Intron variant

4. Mature miRNA variant

5. Missense variant

6. NMD transcript variant

7. Nc transcript variant

8. Non-coding exon variant

9. Regulatory region ablation

10. Regulatory region amplification

11. Regulatory region variant

12. Splice acceptor variant

Solution

12. Splice site consensus sequences are present at very ends of Introns, that facilitates proper splicing of introns in pre mRNA and production of protein. Any mutations in these splice sites leads to improper splicing and finally affts protein production. Mutations in splice sites called Splice acceptor variants

11. The region of Gene (Cis element) that is upstream (left) side that regulates gene expression is called Regulatory region. It controls gene expression and comprises conserved sequences. Mutation in these regions, leads to its variants and they regulates genes in different degrees among individuals or in different tissues

5. Missence mutation is a type of point mutations, in which one codon become another non synonyms codon. In population, if same gene under go mutations and produce different non synonyms codons, then that genes possess missense variants

1. Initiator codon is the one that initiate Protein synthesis. Some genes contain AUG as initiatore codon. Where as some contain GUG and its synonyms codons as Start codons. Variations in these initiator codons is called Initiator codon variants