BTEC 3301 Lecture Notes - Lecture 3: National Center For Biotechnology Information, Protein Isoform, Online Mendelian Inheritance In Man
BTEC 3301
Research Project –Task 3
Due Sunday, November 5 at 11:59 pm
1427158
Tay-Sachs disease
HEXA
Insertion/Point Mutation
Task 3: Sequence Analysis of NORMAL gene and protein sequences for your disease gene.
For your exam prep, you should be able to do database searches to find answers without the detailed
hints that are given in the tasks or exercises.
1) For your OMIM gene sequence, list the number of exons/introns, mRNA variants, the number of each
residues translated from each mRNA variant, and other features. Briefly describe the differences in the
mRNA variants (lengths, number of exons/introns), and protein isoforms. Hint: Go to NCBI Gene
database, query using your RefSeq accn number (NG_____). Ude Tale of otets lik o NCBI
Refeee “euees to fid the RNA tasipts ad isofos. To fid ue of exos ad itos,
pull dow o Full Repot, ad selet Gee tale. Snip showing the different mRNA transcript
variants, and click on each exon table to view the number of exons/introns for each mRNA. Snip and
highlight the relevant steps and answers.
Introns/Extrons
Introns: exons-1= 13
mRNA Variants
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find more resources at oneclass.com
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find more resources at oneclass.com
Document Summary
Task 3: sequence analysis of normal gene and protein sequences for your disease gene. Briefly describe the differences in the mrna variants (lengths, number of exons/introns), and protein isoforms. Hint: go to ncbi gene database, query using your refseq accn number (ng_____). Refe(cid:396)e(cid:374)(cid:272)e e(cid:395)ue(cid:374)(cid:272)es(cid:863) to fi(cid:374)d the (cid:373)rna t(cid:396)a(cid:374)s(cid:272)(cid:396)ipts a(cid:374)d isofo(cid:396)(cid:373)s. to fi(cid:374)d (cid:374)u(cid:373)(cid:271)e(cid:396) of exo(cid:374)s a(cid:374)d i(cid:374)t(cid:396)o(cid:374)s, pull dow(cid:374) o(cid:374) (cid:862)full repo(cid:396)t(cid:863), a(cid:374)d sele(cid:272)t (cid:862)ge(cid:374)e ta(cid:271)le(cid:863). Snip showing the different mrna transcript variants, and click on each exon table to view the number of exons/introns for each mrna. Snip and highlight the relevant steps and answers. Variant 1: 14 exons, 13 introns, spliced exon length 2766. Variant 2: 14 exons, 13 introns, spliced exon length 2733. Isoform 1 precurser, and isoform 2 preproprotein: for the protein sequence of the normal gene, identify the domains using interpro scan. Compare/contrast the domains from interpro with what is described in ncbi gene.