HFI Mutations

 

(As of September 1, 1999 there were 23 published HFI mutations)

 

 

Exon

Trivial

Namea

(recommended)

Codonb

Nucleotide changec

 

Codon changed

Systematic

(cDNA based)e

 

Systematic

(Genomic based)f

 

Other Namesg

Consequence

Other Comments

References

2

M-1T

-1

ATG Æ ACG

Met Æ Thr

c.2T>C

g.2T>C

M1T

missense

initiation codon

Ali et al., 1993

2

R3op

3

C CGA Æ C TGA

Arg Æ Opal

c.10C>T

g.10C>T

R3X; R3ter

nonsense

CpG dinucleotide, opal stop codon

Ali et al., 1994b

2

Q20DA

20

C[A]G Æ CG

Gln Æ Arg (fs)

c.62delA

g.62delA

DA20

frameshift

 

Santamaria et al., 1996

3

IVS2-1D4

37-38

a[gGT A]C Æ aC

 

 

g.922delGGTA

G12/D3;

IVS2-1del GGTA; D4IVS2-E3

splicing defect

3'-end IVS2 acceptor splice site, frameshift

Cross and Cox, 1990

3

R59op

59

CGA Æ TGA

Arg Æ Opal

c.178C>T

g.987C>T

R59X; R59ter

nonsense

CpG dinucleotide, opal stop codon

Brooks and Tolan, 1994 & Ali et al., 1994b

3

1123ins12

104

GT[GGGGATCGTGGT]GG

 

c.314^315ins12

g.1123^1124insGGGGATCGTGGT

‹12E3; V104+GIVV

insertion of 4 amino acids

 

Pappas & Tolan, 1997

4

D4E4

118-120

C[A AAC]A Æ C A

 

c.357delAAAC

g.2397delAAAC

D4, MDD4

frameshift

frameshift

Dazzo andÝ Tolan, 1990

4-5

DE4-E5

 

cc[tg....CC]AG Æ ccAG

 

 

g.1701^3356del

F13/D4,5

large deletion

1649 bp deletion from IVS3 to part of E5

Cross and Cox, 1990

5

C134R

134

TGT Æ CGT

Cys Æ Arg

c.403T>C

g.3279T>C

 

missense

expression showed alterations in activity

Brooks and Tolan, 1994

5

W147R

147

TGG Æ CGG

Trp Æ Arg

c.442T>C

g.3318T>C

 

missense

 

Ali and Cox, 1995

5

A149P

149

GCT Æ CCT

Ala Æ Pro

c.448G>C

g.3324G>C

 

missense

 

Cross et al., 1988

5

A174D

174

GCC Æ GAC

Ala Æ Asp

c.524C>A

g.3400C>A

 

missense

 

Cross et al., 1990a

6-7

DE6-E7

 

tc[tc....gc]ac Æ tcac

 

 

g.4105^5028del

G10/D6,7

large deletion

~1.4 kbp deletion from IVS5 to IVS7

Cross and Cox, 1990

I5

IVS5+1G>C

 

GgtÝ Æ Gct

 

 

g.3417G>C

GÆC, 5'intron 5; IVS5nt1

splicing defect

 

Ali et al., 1996

6

Y203oc

203

TAT Æ TAA

Tyr Æ Ochre

c.612T>A

g.4329T>A

Y203X; Y203ter

nonsense

ochre stop codon

Ali et al., 1993

I6

IVS6-1 G>A

 

agG Æ aaG

 

 

g.4620G>A

GÆA, 3'intron 6; IVS6sas

splicing defect

3'-end of IVS6 acceptor splice site

Ali et al., 1994b

7

C239op

239

TGC Æ TGA

Cys Æ Opal

c.720C>A

g.4716C>A

M240; C239X; C239ter

nonsense

opal stop codon

Kajihara et al., 1990

7

L256P

256

CTC Æ CCC

Leu Æ Pro

c.770T>C

g.4766T>C

 

missense

 

Ali et al., 1994a

8

L288DC

288

[C]TT Æ TT

Leu Æ Phe (fs)

c.865delC

g.5272delC

L288delC

frameshift

 

Cross et al., 1990a

8

R303W

303

CGG Æ TGG

Arg Æ Trp

c.910C>T

g.5317C>T

 

missense

CpG dinucleotide

Santamaria et al., 1996

I8

D7+1

333-334

ta[gGCT AAC]TGCÆ taTG[G]C

 

 

[g.8343delGGCTAAC; g.8351^8352insG]

 

slicing defect

3'-end of IVS8 acceptor splice site and codons 333-334Ý deleted, plus G insertion at codon 335, expression of RNA showed splicing defect

Brooks et al., 1991

9

N334K

334

AAC Æ AAG

Asn Æ Lys

c.1005C>G

g.8349C>G

 

missense

 

Cross et al., 1990b

9

A337V

337

GCG ÆÝ GTG

Ala Æ Val

c.1013C>T

g.8357C>T

 

missense

CpG dinucleotide, expression showed alterations in activity

Rellos et al., 1999