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. 2020 Oct 22;21(21):7830. doi: 10.3390/ijms21217830

Table 2.

HHHS mutations described in the literature so far.

Mutant Fibrinogen Country 1 FGG Exon Type of Mutation Chr 4 Position 2 Nt Variation Native Protein Mature Protein Status Reference
Brescia Italy 8 Missense 155,528,058 G > C p.Gly310Arg p.Gly284Arg Heterozygous [26]
AI DuPont US 8 Missense 155,527,968 C > A p.Thr340Pro p.Thr314Pro Heterozygous [30]
Pisa Italy 8 Missense 155,527,962 G > A p.Asp342Asn p.Asp316Asn Heterozygous [31]
Ankara Turkey 8 Missense 155,527,890 C > G p.His366Asp p.His340Asp Heterozygous [32]
Angers France 8 Deletion + Splicing 155,527,856–155,527,869 GTTTATTACCAAGG
deletion		 p.delGVYYQ 372–376 p.delGVYYQ 346–350 Heterozygous [33]
Beograd Serbia 9 Missense 155,526,174 G > A p.Gly392Ser p.Gly366Ser Heterozygous [31]
Trabzon Turkey 9 Missense 155,526,159 C > T p.Thr397Ile p.Thr371Ile Heterozygous [34]
Aguadilla Puerto Rico 9 Missense 155,526,147 C > T p.Arg401Trp p.Arg375Trp Heterozygous [35]

1 Country where the mutation was described for the first time. 2 Numbering according to UCSC Genome browser on Human Feb. 2009 (GRCh37/hg19) Assembly. Chr, chromosome; n.a., not available; Nt, nucleotide.