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Table 2 SNPs identified in the FV gene by GMPD

From: APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women

Non-silent SNPs

SNP identified by GMPD

 

NM_000130 sequence

codon

amino acid

Exon

nucleotide

codon

amino acid

TTC

Phe [F]

13

2127

TTg

Leu [L]-651

AAC

Asn [N]

13

2297/8

ATT

Ile [I] -708

AAA

Lys [K]* 1

13

2663

AgA

Arg [R]-830

CAT

His [H]* 2

13

2684

CgT

Arg [R]-837

AAg

Lys [K]* 3

13

2863

gAg

Glu [E]-897

TCT/TCA

Ser [S]

13

"2884/5"

TTA

Leu [L]-903

TTT/

Phe [F]/

13

"2884/5"

TTA

Leu [L]-903

gTC

Val [V]

13

2887

CTC

Leu [L]-904

ATA/

Ile [I]/

13

"2893/4"

AAA

Lys [K]-906

CAA/

Glu [E]/

13

"2893/4"

AAA

Lys [K]-906

CTA

Leu [L]

13

"2893/4"

AAA

Lys [K]-906

AAg

Lys [K]

13

2904

AAC

Asn [N]-909

AAT

Asn [N]

13

4040/1

ggT

Gly [G]-1289

ATA

Ile [I]

13

4047

ATg

Met [M]-1291

Cgg

Arg [R]

13

4125

CAg

Glu [Q]-1308

TCA

Ser [S]

13

4648

ACA

Thr [T]-1492

Atg

Met [M]* 4

16

5380

gTg

Val [V]-1736

Ggg

Gly [G]

8

1216

Agg

Arg [R]-348

CAg

Gln [Q]

8

1216/7

Agg

Arg [R]-348

CCT

Pro [P]

8

1219

TCT

Ser [S]-349

CTT

Leu [L]

8

1226

CAT

His [H]-350

CAA

Gln [Q]

12

1977

CAC

His [H]-601

Silent SNPs

SNP identified by GMPD

NM_000130 sequence

Codon

amino acid

exon

nucleotide

codon

amino acid

ATA

Ile [I]

13

2298

ATT

Ile [I]-708

AAC

Asn [N]

13

2325

AAT

Asn [N]-712

TCA

Ser [S]/

13

2391

TCg

Ser [S]-739

gAA

Glu [E]

13

2710

CAA

Gln [Q]-846

CTA

Leu [L]

13

2883

CTg

Leu [L]-902

CCT

Pro [P]

13

3015

CCC

Pro [P]-947

TCC

Ser [S]

13

3894

TCT

Ser [S]-1240

CTT

Leu [L]

13

4038

CTC

Leu [L]-1288

ACT

Thr [T]

13

4185

ACC

Thr [T]-1337

  1. Notes:
  2. Nucleotide and amino acid positions presented in this table correspond to GenBank sequence NM_000130. When (/) appears between nucleotide bases, it indicates that the SNPs were found in the same codon. The (" ") indicate that there were identified possible amino acids encoded by the SNPs at that nucleotide position. The amino acids at codon residues 348 and 708 appear twice in the table as they were found in different subjects with different SNPs. Abbreviations: (A) adenine, (G) guanine, (T) thymine and (C) cytosine.
  3. * 1 [R] in NP_000121, NM_000130, M16967 and [K] in Z99572, XM_001575.
  4. * 2 [R] in NP_000121, NM_000130, M16967 and [H] in Z99572, XM_001575.
  5. * 3 [E] in NP_000121, NM_000130, M16967 and [K] in Z99572, XM_001575.
  6. * 4 [V] in NP_000121, NM_000130, M16967 and [M] in Z99572, XM_001575.