Exon/Intron Trivial Name Codon Nucleotide Change* Codon Changed Systematic(cDNA based) Systematic (genomic based) Other names Type Consequence Validaton Frequency Comments Reference
2 M-1T -1 CCATGGC>CCACGGC Met>Thr c.2T>C g.4895T>C M1T transition missense DNA only private initiation codon Ali et al, 1993
2 R3Op 3 CACCGAT>CACTGAT Arg>Opal c.10C>T g.4903C>T R3X, R3ter transition nonsense DNA only private CpG dinucleotide, opal stop codon Ali et. al., 1994b
2 A20 20 CCC[A]GAG>CCCGAG Gln>Arg (fs) c.62delA g.4955delA (first base of deletion) A20 deletion frameshift DNA only 0.002 only in Italy Santamaria, 1996
IVS2 IVS2-1G>A atagGTA>ataaGTA g.5814G>A c.113-1G>A transition splicing defect DNA only private Santer, 2005
3 IVS2-14 37-38 ata[gGTA]CCA>ataCCA g.5813delGGTA G12/3;IVS2-delGGTA;4IVS2-E3 deletion splicing defect DNA only private 3'-endIVS2 acc spl site, frameshift Cross and Cox,1990
3 R59op 59 TTCCGAG>TTCTGAG Arg>Opal c.178C>T g.5880C>T R59X;R59ter transition nonsense DNA only 0.02 CpG dinucleotide, opal stop codon Brooks and Tolan, 1994
3 I73T 73 GCATCGG>GCACCGG Ile>Thr c.221T>C g.5923T>C transition missense Protein expression only private Protein insoluble Esposito, 2004
3 L83C 83 CCT[C]TAC>CCTTAC Leu>Leu(fs) c.252delC g.5954delC c.250 delC deletion frameshift DNA only private Gruchota, 2006
3 1123ins12 104 GGT[]GGG>GGT[GGGGATCGTGGT]GGG c.314^315ins12 g.6016^6017insGGGGATCGTGGT ‹12E3;V104+GIVV insertion insertion of 4 amino acids DNA only private Pappas and Tolan, 1997 (#34)
IVS3 K107K12 104-107del GTG[GTGGGAATCAAG]gtt>GTGgtgggaatcaaagtt c.324G>A;delGTGGGAATCAAG(312-324) g.6026G>A g.1133G>A transition missense leading to splicing defect leading to deletion RNA expression analysis private Sanchez, 2002
IVS3 IVS3-1G>A acagTTA>acaaTTA g.7257G>A c.325-1G>C, g.8180G>C,IVS3sas transversion splicing defect DNA only private Esposito, 2004
4 28E4 114-151 TCC[TCTTGCAGGAACAAACAAAGAAACCACC]ATT>TCCATT Pro>Pro(fs) c.345-372del28 g.7277^7305del c.345_72del28 deletion frameshift DNA only private stop codon at aa 151 Santer, 2005
4 Q110Oc 110 GACCAAG>GACTAAG Gln>Ochre c.331C>T g.7264C>T transition nonsense DNA only private Esposito, 2004
4 4E4 118-120 GAAC[AAAC]AAAG>GAACAAAG c.357delAAAC g.7289delAAAC 4, MD4 deletion frameshift Activity measured in liver biopsy from homozygote 0.03 Dazzo and Tolan, 1990
4-5 E4-E5 ccc[tgtŠTCC]AGC>cccAGC g.6594^8239del F13/4,5 deletion large deletion DNA only private 1646 bp deletion from IVS3 to part of E5 Cross and Cox,1990
5 C134R 134 CGCTGTG>CGCCGTG Cys>Arg c.403T>C g.8162T>C C135R transition missense Protein expressed, partial activity, unstable private Brooks and Tolan, 1994
5 W147R 147 AAGTGGC>AAGCGGC Trp>Arg c.442T>C g.8201T>C W148R transition missense Protein expressed, partially active private Ali and Cox, 1995
5 A149P 149 CGTGCTG>CGTCCTG Ala>Pro c.448G>C g.8212G>C A150P transversion missense Protein expressed, partial activity, unstable, crystal structure done 0.57 Most common, most well studied Cross et al, 1988
5 Y173Am 173 CTACGCC>CTAGGCC Tyr>Amber c.522C>G g.8281C>G Y174X transversion nonsense DNA only private Gruchota, 2006
5 A174D 174 ACGCCAG>ACGACAG Ala>Asp c.524C>A g.8283C>A A175D transversion missense Protien expressed, unstable; Activity measured in liver biopsy from homozygote 0.13 Cross et al, 1990a
5 C177R 177 ATCTGTC>ATCCGTC Cys>Arg c.532T>C g.8291T>C p.C178R transition missense DNA only private Santer, 2005
6-7 E6-E7 atc[tcaŠagc]act>atcact g.8989^10457del G10/6,7 deletion large deletion DNA only private 1469 bp deletion from IVS5 to IVS7 Cross and Cox,1990
IVS5 IVS5+1G>C CAGgtgc>CAGctgc g.8300G>C G>C,5'intron5;IVS5nt1 transversion splicing defect DNA only private Ali et al, 1996
6 6E6 GGA[CTGGTA]CCT>GGACCT LeuValdel c.547-552delCTGGTA g.9149-9154delCTGGTA Leu182-Val183del deletion deletion of 2 amino acids DNA only private Santamaria, 1999
6 P184R 184 TACCTAT>TACGTAT Pro>Arg c.554C>G g.9156C>G p.P184R transversion missense DNA only private Sanchez-Gutierrez, 2002
6 Y203Oc 203 GTATGTT>GTAAGTT Tyr>Ochre c.612T>A g.9214T>A Y203X;Y203term transversion nonsense DNA only private ochre stop codon Ali et al, 1993
6 Y203Am 203 GTATGTT>GTAGGTT Tyr>Amber c.612T>G g.9214T>G p.Y204X transversion nonsense DNA only private Santer, 2005
IVS6 IVS6-2A>G ttcagGT>ttcggGT g.10152A>G transition splicing defect DNA only private Esposito, 2004
IVS6 IVS6-1G>A tcagGTC>tcaaGTC g.10153G>A G>A,3'intron6;IVS6sas transition splicing defect DNA only private 3'-end of IVS6 acc splice site Ali et. al., 1994b
7 V221F 221 CATGTTT>CATTTTT Val>Phe c.664G>T g.10193G>T g.10236G>T; p.V222F transversion missense Protein expression only private Protein insoluble Esposito, 2004
7 L228P 228 TGCTAAA>TGCCAAA Leu>Pro c.686T>C g.10215T>C g.10258T>C; p.L229P transition missense Protein expression only private Protein insoluble Esposito, 2004
7 C239Op 239 CTGCACC>CTGAACC Cys>Opal c.720C>A g.10249C>A M240;C239X;C239ter transversion nonsense Protein expressed private opal stop codon Kajihara et al, 1990
7 L256P 256 CTCTCCA>CTCCCCA Leu>Pro c.770T>C g.10299T>C transition missense Protein expressed, partially active (mild) 0.01 Ali et al, 1994a
IVS7 IVS7+2T>A TGgtaag>TGgaaag g.10333T>A c.799+2T>A transversion splicing defect DNA only private Santer, 2005
8 2E8 280 GCC[AC]TCT>GCCTCT Thr>Ser (fs) c.841-842delAC c.10780-10781delAC c.841_842delAC deletion frameshift DNA only private Santer, 2005
8 L283P 283 ACCTCAA>ACCCCAA Leu>Pro c.851T>C g.10790T>C p.L284P transition missense DNA only private Santer, 2005
8 L288C 288 AAC[C]TTT>AACTTT Leu>Phe (fs) c.865delC g.10804delC L288delC deletion frameshift DNA only 0.003 only in Sicily Cross et al, 1990a
8 R303W 303 GGACGGG>GGATGGG Arg>Trp c.910C>T g.10849C>T transition missense Protein expressed, decreased activity private CpG dinucleotide Santamaria, 1996
8 R303Q* 303 GACGGGC>GACAGGC Arg>Gln c.911G>A g.10850G>A transition missense *Protein expressed, active private/poly? Santamaria, 2000
IVS8 7+1 333-334 cta[gGCTAAC]TGCCA>ctaTG[G]CCA [c.1000-1005delGGCTAAC;c.1007^1008insG] [g.13875delGGCTAAC;g.13884^13885insG] indel splicing defect RNA splicing analysis confirmation private 3'-end of IVS8 acc splice site and codons333-334 deleted, plus G insertion at codon 335, expression of RNA showed splicing defect Brooks et al, 1991
9 N334K 334 TAACTGC>TAAGTGC Asn>Lys c.1005C>G g.13882C>G transversion missense Protein expressed, partially active 0.05 Cross et al, 1990b
9 A337V 337 AGGCGGC>AGGTGGC Ala>Val c.1013C>T g.13890C>T transition missense Protein expressed, mild defect, liver biopsy of homozygote showed decreased activity 0.01 CpG dinucleotide, expression showed alterations in activity Rellos et al, 1999
9 6+5 347-349 TTC[TTCTGG]GGC>TTC[ACACT]GGC SerSerGly>SerHisTrp(fs) [c.1043delTTCTGG;c.1043^1044insACACT [g.13920delTTCTGG;g.13920^13921insACACT] c.1044_1049delTTCTGGinsACACT indel frameshift DNA only private deletion of 6, insertion of 5, stop codon at 369 Santer, 2005
*(Uppercase denotes protein coding sequence, lowercase denotes non-coding sequence; change is in bold; any codons are underlined; all are given within a 7-base context)