Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

Table 1 Genotypic expression of mutations in fibrinogen gene (FGA, FGB & FGG)

IP #	Gene	Exon	Mutation	Amino Acid change	Zygosity	Mutation type	Reported/Novel
C1	*FGA*	1	c.24C > A	p.Cys8^a	Homozygous	Nonsense	Ref [23] ^€
C2		2	c.143_144 del AA	p.Lys(AAA)48Arg fs9^a	Compound Heterozygous	Frame shift	Novel mutation
C3		5	c.846delG	p.Gln282Thr fsx83^a	Compound Heterozygous	Frame shift	Novel mutation
C3		4	c.385C > T	p.Arg129^a	Homozygous	Nonsense	Ref [24] ^€
C4		4	c.385 C > T	p.Arg129^a	Homozygous	Nonsense	Ref [24] ^€
C5		5	c.598C > T	p.Gln183^a	Homozygous	Nonsense	Novel mutation
C6		5	c.904C > G	p.Pro302Ala	Homozygous	Missense	Novel mutation
C7		5	c.913A > G	p.Thr 305 Ala	Homozygous	Missense	Novel mutation
C8		5	c.992A > G	p.Thr331Ala	Homozygous	Missense	Novel mutation
C9		5	c.992A > G	p.Thr331Ala	Homozygous	Missense	Novel mutation
C10		5	c.974A > G	p.Ser325Gly	Homozygous	Missense	Novel mutation
C11A	*FGB*	2	c.141 > T	p.Arg47^a	Homozygous	Nonsense	Ref [25] ^€
C11B		2	c.141C > T	p.Arg47^a	Homozygous	Nonsense	Ref [25] ^€
C9		8	c.1294 T > A	p.Trp 432Arg	Homozygous	Missense	Novel mutation
C12	*FGG*	2	c.120_126dupTTCTTCA	TTCTTCA	Homozygous	Frame shift	Novel mutation
C13A		4	c.361A > T	p.Lys121^a	Homozygous	Nonsense	Novel mutation
C13B		4	c.361A > T	Lys121^a	Homozygous	Nonsense	Novel mutation

Identified novel and reported mutations in three genes of fibrinogen. The letter A and B with patient code designate the sibling status. € (reported mutation,) c (complimentary deoxyribonucleic acid), A (adenine), T (thymine), C (cytosine), G (guanine), Lys (lysine), Arg (arginine), Tyr (tyrosine), Pro (proline), Trp (tryptophan), Thr (threonine), Gln (glycine), Cys = cystine, fs = frame shift, ^a stop codon number, FGA (fibrinogen Aα-chain gene), FGB (fibrinogen Bβ-chain gene), FGG (fibrinogen GƔ-chain gene

ISSN: 1477-9560