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. 2007 Jan 5;109(9):3713–3724. doi: 10.1182/blood-2006-06-026104

Table 2.

Characteristics, status, and allelic associations of F8 polymorphisms with FVIII:C levels

Region, TU* Protein* GenBank* m-AFs, %†
 F8 variation databases‡
T W AA Ch SEA J MI SAA HAMSTeRS38,58 VDR53 dbSNP59
Promoter
    −825G>A — 49785830 0.9 NP 7.7 NP NP NP NP NP NF F8-002289 NF
    −824G>A — 49785831 0.9 NP 7.7 NP NP NP NP NP NF F8-002290 NF
    −493G>A — 49785832 0.5 NP 3.8 NP NP NP NP NP NF F8-002621 rs4898404
    −385 A4>A5 — 49785833 0.9 NP NP NP NP NP 25.0 NP NF NF NF
    −287T>C — 49785834 0.5 NP 3.8 NP NP NP NP NP NF NF NF
Intron 2
    25610G>A — 49785835 0.5 NP 4.5 NP NP NP NP NP NF F8-028722 NF
Intron 3
    25865G>A — 49785836 0.5 NP 4.2 NP NP NP NP NP NF F8-028977 NF
    25885G>C — 49785837 0.5 NP 4.2 NP NP NP NP NP NF F8-028997 NF
    29567C>T — 49785838 0.5 NP NP NP NP NP NP 12.5 NF NF NF
Intron 4
    29854T>C — 49785839 0.5 NP 3.8 NP NP NP NP NP NF NF NF
Intron 5
    35518C>G — 49785840 0.9 NP 8.0 NP NP NP NP NP NF NF NF
Intron 6
    53034A>G§ — 49785841 0.5 0.7 NP NP NP NP NP NP NF NF NF
Exon 7
    53206G>T§ W255C 49785842 0.5 NP NP NP 6.7 NP NP NP NA NF NF
Intron 7
    55938C>A§ — 49785843 0.5 NP NP NP 6.7 NP NP NP NF NF NF
    56010G>A§ — 49785844 9.6 6.4 26.9 7.7 NP 12.5 12.5 25.0 + F8-059122 rs7058826
Exon 8
    56113G>A§ A343A 49785845 0.5 NP 3.8 NP NP NP NP NP + F8-059225 rs1800289
Intron 9
    61534T>C — 49785846 0.5 NP 3.8 NP NP NP NP NP NF F8-064646 rs5986899
Exon 10
    61620G>A R484H 49785847 0.9 NP 8.3 NP NP NP NP NP + NF NF
Intron 13
    75215G>A — 0.5 NP 3.8 NP NP NP NP NP NF F8-077273 rs5987069
    90948A>G — 49785848 0.5 NP NP NP NP NP NP 12.5 NF NF NF
Exon 14
    91317A>G R776G 49785849 0.5 NP NP 7.7 NP NP NP NP NF NF rs2228152
    92555C>T§ H1188H 49785850 0.5 NP 4.3 NP NP NP NP NP NF F8-095667 NF
    92714C>G§ D1241E 49785851 14.7 7.7 72.7 7.7 NP 12.5 12.5 25.0 + F8-095826 rs1800291
    92798A>C§ S1269S 49785852 7.7 6.3 3.8 7.7 20.0 NP 12.5 25.0 + F8-095910 rs1800292
    92927G>A K1312K 49785853 0.5 NP NP NP 6.7 NP NP NP NF NF NF
    93401C>G V1470V 49785854 0.5 NP 4.5 NP NP NP NP NP NF NF NF
    93434G>A P1481P 49785855 0.9 NP 9.1 NP NP NP NP NP NF NF NF
Intron 15
    116434C>T — 49785856 0.5 NP NP 7.7 NP NP NP NP NF NF NF
Intron 18
    118909T>A§ — 49785857 20.3 14.6 84.6 7.7 14.3 NP 42.9 37.5 + F8-122021 rs4898352
Intron 19
    120776T>C§ — 49785858 24.5 17.3 75.0 7.7 16.7 NP 37.5 50.0 + F8-123888 rs4074307
Intron 22
    158352C>T — 49785859 0.5 0.7 NP NP NP NP NP NP NF NF NF
    158368T>C — 49785860 0.5 0.7 NP NP NP NP NP NP NF F8-161500 NF
    158635C>T — 49785861 0.5 NP 3.8 NP NP NP NP NP NF F8-161767 rs5987054
    158777A>G — 49785862 0.5 0.7 NP NP NP NP NP NP NF NF NF
    158820C>T — 49785863 0.5 NP 3.8 NP NP NP NP NP NF F8-161952 rs5987053
    159087G>A — 49785864 0.5 0.7 NP NP NP NP NP NP NF NF NF
Intron 23
    159874G>A§ — 49785865 1.4 1.4 3.8 NP NP NP NP NP NF F8-163006 NF
Intron 24
    162013G>T§ — 49785866 3.3 5.0 NP NP NP NP NP NP NF F8-165145 NF
Exon 25
    162161A>G§ M2238V 49785867 1.8 NP 15.4 NP NP NP NP NP + F8-165293 rs17051967
Intron 25
    162475T>C§ — 49785868 4.1 5.6 NP NP NP NP NP 12.5 NF F8-165607 NF
3′ UTR
    185156C>T§ — 49785869 0.5 NP 3.8 NP NP NP NP NP NF F8-188288 rs5986887
    186341G>A§ — 49785870 0.5 NP NP NP NP 12.5 NP NP NF NF NF
    186506A>G§ — 49785871 0.5 0.7 NP NP NP NP NP NP NF NF NF
    186602C>T§ — 49785872 0.5 0.7 NP NP NP NP NP NP NF NF NF
    186799G>A§ — 49785873 24.8 17.4 76.9 NP 13.3 NP 50.0 50.0 + F8-189931 rs1050705
3′ DNA
    186987T>G§ — 49785874 0.9 NP 9.1 NP NP NP NP NP NF F8-190119 NF
    187064T>C§ — 49785875 1.8 NP 15.4 NP NP NP NP NP NF F8-190196 NF

Except for the mild hemophilic missense mutation W255C, the coding region variants in italics represent ns-SNPs that encode the amino-acid substitutions listed.

T indicates total; W, the 68 SW and 18 WA subjects, which were considered together; HAMSTeRS, Hemophilia A Mutation, Structure, Test, and Resource Site; VDR, Variation Discovery Resource (UW-FHCRC); dbSNP (NCBI); —, polymorphisms located outside of the F8 coding sequence; NP, not polymorphic; NF, not found; NA, not applicable; and +, a previously known polymorphism.

*

Polymorphisms are designated by genic region; nt alleles and position in the TU (start site and adjacent 5′ base are designated as nt 1 and −1, respectively); amino acid alleles and position in the mature plasma protein; and GenBank number for dbSNP submission.

†

Estimated from subjects in either the total VDG or each of its racial groups separately. Genotypic data were not complete for all variants and resulted in denominators that varied from the maximum number of distinct X-chromosomes (see “Patients, materials, and methods”).

‡

Public databases with F8 polymorphisms.

§

Twenty-one SNPs contained in the 9 amplicons generated to genotype GAIT subjects for the subset of 12 that were located in a functional-gene region and variable in at least white individuals.