Bioinformatics

=Using Bioinformatic Tools to discover the genetic basis for Hereditary Angioedema III=

__Basic Local Alignment Search Tool protein (Blastp) Search__:
Performing a Blastp search navigates to find regions of local similarity between sequences when submitted in the FASTA format. A FASTA is a sequence of letters used to represent base pairs of amino acids. Coagulation factor XII is conserved in the superfamily Tryp_SPc. FASTA sequence : GI:15214537

Figure 1: Results from BlastP of GI:15214537 showing superfamily Tryp_SPc to be a conserved domain for human coagulation factor XII

__MapViewer__:
Figure 2: Chromosome: **5;** Location: **5q33-qter** Chromosome 5 - NC_000005.9



Figure 3: Chromosome 5; coagulation factor XII is located towards end at [|176,829,141-176,836,577] ﻿bases and on the reverse strand.

F12 in Mapviewer Map viewer shows human chromosome 5 and the location at which F12 (coagulation factor) can be found on it.

[|F12 on chromome 5] Ensembl can be used to see the region on chromosome 5 where F12 is located in more detail

Coagulation factor XII in biological systems
[| The KEGG pathway] is used to observer molecular pathways for reactions and interactions in networks. Here, F12 is highlighted in red.
 * __KEGG Pathway__:**

Figure 4: Complement and coagulation cascades drawn manually in KEGG pathway PLG= plasminogen KLKB1= kallikrein B, plasma KNG= kininogen BDKR= bradykinin receptor B1
 * Gene's correlated to F12:** name and definition;

__**MEGA compiled Phylogenetic Tree**__
Geneious was implemented to align the sequences of coagulation factor XII, precursors 1 and 2, and isoforms (a-d). The alignment was then exported and MEGA was used to create a phylogenetic tree using statistical analysis. GI numbers

Figure 5: A phylogenetic reconstruction of maximum likelihood using the bootstrap method. Isoforms of A-D, F12 precursors 1 and 2, and the Hageman factor were selected to test for the maximum likelihood model.

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