MEFV
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Jarjour RA 2009
2 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay Gershoni-Baruch R et al., 2002
3 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay Gershoni-Baruch R et al., 2002
4 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Gershoni-Baruch R et al., 2002
5 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay, Restriction enzyme analysis Dewalle M et al., 1998
6 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Restriction enzyme analysis, PCR based assay Dewalle M et al., 1998
7 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Dewalle M et al., 1998
8 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Restriction enzyme analysis Dewalle M et al., 1998
9 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR based assay, Restriction enzyme analysis Gershoni-Baruch R et al., 2003
10 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions PCR based assay, Restriction enzyme analysis Gershoni-Baruch R et al., 2003
11 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay, Restriction enzyme analysis Gershoni-Baruch R et al., 2003
12 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay, Restriction enzyme analysis Gershoni-Baruch R et al., 2003
13 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay, Restriction enzyme analysis Gershoni-Baruch R et al., 2003
14 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions PCR based assay, Restriction enzyme analysis Gershoni-Baruch R et al., 2003
15 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing, Restriction enzyme analysis Bernot A et al., 1998
16 Substitutions Genomic: g.2061G>C
CDS: c.501G>C
AnimoAcid: p.Glu167Asp		 Substitutions Direct sequencing, Restriction enzyme analysis Bernot A et al., 1998
17 Substitutions Genomic: g.2360C>T
CDS: c.800C>T
AnimoAcid: p.Thr267Ile		 Substitutions Direct sequencing, Restriction enzyme analysis Bernot A et al., 1998
18 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions Direct sequencing, Restriction enzyme analysis Bernot A et al., 1998
19 Deletion Genomic: g.13217_13219del
CDS: c.2076_2078del
AnimoAcid: p.Ile692del		 Deletion Direct sequencing, Denaturing gradient gel electrophoresis Bernot A et al., 1998
20 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Direct sequencing, Denaturing gradient gel electrophoresis Bernot A et al., 1998
21 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions Direct sequencing, Denaturing gradient gel electrophoresis Bernot A et al., 1998
22 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions Direct sequencing, Denaturing gradient gel electrophoresis Bernot A et al., 1998
23 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions Direct sequencing, Denaturing gradient gel electrophoresis Bernot A et al., 1998
24 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing, Restriction enzyme analysis Aksentijevich I et al., 1999
25 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions Direct sequencing, PCR based assay Aksentijevich I et al., 1999
26 Substitutions Genomic: g.2061G>C
CDS: c.501G>C
AnimoAcid: p.Glu167Asp		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Aksentijevich I et al., 1999
27 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Direct sequencing, Restriction enzyme analysis Aksentijevich I et al., 1999
28 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Direct sequencing, Restriction enzyme analysis Aksentijevich I et al., 1999
29 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Direct sequencing, PCR based assay Aksentijevich I et al., 1999
30 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Direct sequencing, PCR based assay Aksentijevich I et al., 1999
31 Substitutions Genomic: g.13181G>A
CDS: c.2040G>A
AnimoAcid: p.Met680Ile		 Substitutions Direct sequencing, Restriction enzyme analysis Aksentijevich I et al., 1999
32 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Direct sequencing Aksentijevich I et al., 1999
33 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions Direct sequencing, PCR based assay Aksentijevich I et al., 1999
34 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions Direct sequencing, PCR based assay Aksentijevich I et al., 1999
35 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay French FMF Consortium, 1997
36 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions PCR based assay French FMF Consortium, 1997
37 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay, Restriction enzyme analysis French FMF Consortium, 1997
38 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay, Restriction enzyme analysis French FMF Consortium, 1997
39 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Fluorescent sequencing The International FMF Consortium, 1997
40 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Fluorescent sequencing The International FMF Consortium, 1997
41 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Fluorescent sequencing The International FMF Consortium, 1997
42 Substitutions Genomic: g.7160G>A
CDS: c.1223G>A
AnimoAcid: p.Arg408Gln		 Substitutions Denaturing gradient gel electrophoresis, PCR based assay Cazeneuve C et al., 1999
43 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Restriction enzyme analysis Cazeneuve C et al., 1999
44 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Restriction enzyme analysis Cazeneuve C et al., 1999
45 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Restriction enzyme analysis Cazeneuve C et al., 1999
46 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Denaturing gradient gel electrophoresis Cazeneuve C et al., 1999
47 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions Denaturing gradient gel electrophoresis Cazeneuve C et al., 1999
48 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions Denaturing gradient gel electrophoresis Cazeneuve C et al., 1999
49 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Denaturing gradient gel electrophoresis Cazeneuve C et al., 1999
50 Substitutions Genomic: g.13183C>T
CDS: c.2042C>T
AnimoAcid: p.Thr681Ile		 Substitutions PCR based assay Booth DR et al., 1998
51 Deletion Genomic: g.13222_13224delTGA
CDS: c.2081_2083delTGA
AnimoAcid: p.Met694del		 Deletion PCR based assay Booth DR et al., 1998
52 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Booth DR et al., 1998
53 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay Booth DR et al., 1998
54 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions PCR based assay Booth DR et al., 1998
55 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay Booth DR et al., 1998
56 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Direct sequencing Nakamura A et al., 2005
57 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing Nakamura A et al., 2005
58 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing, Restriction enzyme analysis Booth DR et al., 2000
59 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Direct sequencing Booth DR et al., 2000
60 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Direct sequencing Booth DR et al., 2000
61 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Direct sequencing Booth DR et al., 2000
62 Deletion Genomic: g.13222_13224delTGA
CDS: c.2081_2083delTGA
AnimoAcid: p.Met694del		 Deletion Direct sequencing Booth DR et al., 2000
63 Substitutions Genomic: g.9457C>T
CDS: c.1432C>T
AnimoAcid: p.His478Tyr		 Substitutions Direct sequencing Aldea A et al., 2004
64 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR based assay Jarjour RA 2009
65 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Direct sequencing Ganiou Tidjani K et al., 2008
66 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay Sabbagh AS et al., 2008
67 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR based assay Sabbagh AS et al., 2008
68 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay Sabbagh AS et al., 2008
69 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions PCR based assay Sabbagh AS et al., 2008
70 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Sabbagh AS et al., 2008
71 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions PCR based assay Sabbagh AS et al., 2008
72 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions PCR based assay Sabbagh AS et al., 2008
73 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions PCR based assay Sabbagh AS et al., 2008
74 Deletion Genomic: g.13217_13219delAAT
CDS: c.2076_2078delAAT
AnimoAcid: p.Ile692del		 Deletion PCR based assay Sabbagh AS et al., 2008
75 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions PCR based assay Sabbagh AS et al., 2008
76 Substitutions Genomic: g.13181G>A
CDS: c.2040G>A
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Sabbagh AS et al., 2008
77 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay Gunel-Ozcan A et al., 2009
78 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Gunel-Ozcan A et al., 2009
79 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay Gunel-Ozcan A et al., 2009
80 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR based assay Gunel-Ozcan A et al., 2009
81 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions PCR based assay Gunel-Ozcan A et al., 2009
82 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Restriction enzyme analysis Mattit H et al., 2006
83 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Restriction enzyme analysis Mattit H et al., 2006
84 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Restriction enzyme analysis Mattit H et al., 2006
85 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Restriction enzyme analysis Mattit H et al., 2006
86 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Restriction enzyme analysis Mattit H et al., 2006
87 Substitutions Genomic: c.-382C>T
CDS:
AnimoAcid: 		Substitutions Denaturing gradient gel electrophoresis Notarnicola C et al., 2009
88 Substitutions Genomic: c.-614C>G
CDS:
AnimoAcid: 		Substitutions Denaturing gradient gel electrophoresis Notarnicola C et al., 2009
89 Substitutions Genomic: g.2248G>A
CDS: c.688G>A
AnimoAcid: p.Glu230Lys		 Substitutions PCR based assay, Restriction enzyme analysis Timmann C et al., 2001
90 Substitutions Genomic: g.13099G>A
CDS: c.1958G>A
AnimoAcid: p.Arg653His		 Substitutions PCR based assay, Restriction enzyme analysis Timmann C et al., 2001
91 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay, Restriction enzyme analysis Timmann C et al., 2001
92 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay Jarjour RA 2009
93 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
94 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
95 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
96 Deletion Genomic: g.13217_13219del
CDS: c.2076_2078del
AnimoAcid: p.Ile692del		 Deletion Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
97 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
98 Substitutions Genomic: g.13181G>A
CDS: c.2040G>A
AnimoAcid: p.Met680Ile		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
99 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
100 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
101 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
102 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
103 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
104 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Allele-specific oligonucleotide hybridization analysis, PCR based assay Delague V et al., 2004
105 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay, Restriction enzyme analysis Medlej-Hashim M et al., 2000
106 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay, Restriction enzyme analysis Medlej-Hashim M et al., 2000
107 Substitutions Genomic:
CDS:
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay, Restriction enzyme analysis Medlej-Hashim M et al., 2000
108 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR based assay, Restriction enzyme analysis Medlej-Hashim M et al., 2000
109 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions PCR based assay, Restriction enzyme analysis Medlej-Hashim M et al., 2000
110 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions PCR based assay, Restriction enzyme analysis Medlej-Hashim M et al., 2000
111 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions PCR based assay, Restriction enzyme analysis Medlej-Hashim M et al., 2000
112 Substitutions Genomic: g.2360C>T
CDS: c.800C>T
AnimoAcid: p.Thr267Ile		 Substitutions PCR based assay, Restriction enzyme analysis Medlej-Hashim M et al., 2000
113 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions NA Sugiura T et al., 2008
114 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions NA Sugiura T et al., 2008
115 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions NA Sugiura T et al., 2008
116 Substitutions Genomic: g.7160G>A
CDS: c.1223G>A
AnimoAcid: p.Arg408Gln		 Substitutions NA Sugiura T et al., 2008
117 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing, PCR based assay Kotone-Miyahara Y et al., 2004
118 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Direct sequencing, PCR based assay Kotone-Miyahara Y et al., 2004
119 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Direct sequencing, PCR based assay Shinozaki K et al., 2002
120 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Direct sequencing, PCR based assay Yoshida K et al., 2003
121 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay Solak M et al., 2008
122 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR based assay Solak M et al., 2008
123 Substitutions Genomic:
CDS:
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Solak M et al., 2008
124 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay Solak M et al., 2008
125 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions PCR based assay Solak M et al., 2008
126 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Denaturing gradient gel electrophoresis, Direct sequencing, PCR based assay Mansour I et al., 2001
127 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Denaturing gradient gel electrophoresis, Direct sequencing, PCR based assay Mansour I et al., 2001
128 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Mansour I et al., 2001
129 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Denaturing gradient gel electrophoresis, Direct sequencing, PCR based assay Mansour I et al., 2001
130 Substitutions Genomic:
CDS:
AnimoAcid: p.Met680Ile		 Substitutions Denaturing gradient gel electrophoresis, Direct sequencing, PCR based assay Mansour I et al., 2001
131 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions Direct sequencing Mansour I et al., 2001
132 Substitutions Genomic: g.2061G>C
CDS: c.501G>C
AnimoAcid: p.Glu167Asp		 Substitutions Direct sequencing Mansour I et al., 2001
133 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions Direct sequencing Mansour I et al., 2001
134 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions PCR based assay Jarjour RA 2009
135 Substitutions Genomic: g.2235G>C
CDS: c.675G>C
AnimoAcid: p.Glu225Asp		 Substitutions Direct sequencing, NIRCA Zonios D et al., 2007
136 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay Jarjour RA 2009
137 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions PCR based assay Jarjour RA 2009
138 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions PCR based assay Jarjour RA 2009
139 Substitutions Genomic: g.13181G>A
CDS: c.2040G>A
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Jarjour RA 2009
140 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions PCR based assay Jarjour RA 2009
141 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions PCR based assay Jarjour RA 2009
142 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions PCR based assay Jarjour RA 2009
143 Deletion Genomic: g.13217_13219delAAT
CDS: c.2076_2078delAAT
AnimoAcid: p.Ile692del		 Deletion PCR based assay Jarjour RA 2009
144 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Direct sequencing, PCR based assay Marek-Yagel D et al., 2009
145 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Direct sequencing, PCR based assay Marek-Yagel D et al., 2009
146 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Direct sequencing, PCR based assay Marek-Yagel D et al., 2009
147 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
148 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
149 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
150 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
151 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
152 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
153 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
154 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
155 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
156 Substitutions Genomic: g.13181G>A
CDS: c.2040G>A
AnimoAcid: p.Met680Ile		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
157 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Allele-specific oligonucleotide hybridization analysis Akin H et al., 2010
158 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay Yilmaz R et al., 2009
159 Substitutions Genomic: g.13181G>A
CDS: c.2040G>A
AnimoAcid: p.Met680Ile		 Substitutions PCR based assay Yilmaz R et al., 2009
160 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR based assay Yilmaz R et al., 2009
161 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay Yilmaz R et al., 2009
162 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions PCR based assay Yilmaz R et al., 2009
163 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions PCR based assay Yilmaz R et al., 2009
164 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions PCR based assay Yilmaz R et al., 2009
165 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing Kutukculer N et al., 2010
166 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR based assay el-Garf A et al., 2010
167 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR based assay el-Garf A et al., 2010
168 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions PCR based assay el-Garf A et al., 2010
169 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions PCR based assay el-Garf A et al., 2010
170 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions PCR based assay el-Garf A et al., 2010
171 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions PCR based assay el-Garf A et al., 2010
172 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions NA Ureten K et al., 2010
173 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions NA Ureten K et al., 2010
174 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions NA Ureten K et al., 2010
175 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions NA Ureten K et al., 2010
176 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions NA Ureten K et al., 2010
177 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions NA Ureten K et al., 2010
178 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing Karaca NE et al., 2012
179 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions NA Kuloglu Z et al., 2012
180 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Direct sequencing Kilim Y et al., 2011
181 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing Kilim Y et al., 2011
182 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Direct sequencing Kilim Y et al., 2011
183 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Direct sequencing Kilim Y et al., 2011
184 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions Direct sequencing Kilim Y et al., 2011
185 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions Direct sequencing Kilim Y et al., 2011
186 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions Direct sequencing Kilim Y et al., 2011
187 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Direct sequencing Kilim Y et al., 2011
188 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR-reverse hybridization assay Caglayan AO et al., 2010
189 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR-reverse hybridization assay Caglayan AO et al., 2010
190 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR-reverse hybridization assay Caglayan AO et al., 2010
191 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR-reverse hybridization assay Caglayan AO et al., 2010
192 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions PCR-reverse hybridization assay Caglayan AO et al., 2010
193 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions PCR-reverse hybridization assay Caglayan AO et al., 2010
194 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions PCR-reverse hybridization assay Caglayan AO et al., 2010
195 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions PCR-reverse hybridization assay Caglayan AO et al., 2010
196 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Direct sequencing Vergara C et al., 2012
197 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing Vergara C et al., 2012
198 Substitutions Genomic: g.9557C>T
CDS: c.1532C>T
AnimoAcid: p.Ala511Val		 Substitutions Direct sequencing Vergara C et al., 2012
199 Substitutions Genomic: g.13291G>A
CDS: c.2150G>A
AnimoAcid: p.Arg717His		 Substitutions Direct sequencing Vergara C et al., 2012
200 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions Direct sequencing Vergara C et al., 2012
201 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Allele-specific oligonucleotide hybridization analysis Dundar M et al., 2012
202 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Allele-specific oligonucleotide hybridization analysis Dundar M et al., 2012
203 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Allele-specific oligonucleotide hybridization analysis Dundar M et al., 2012
204 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Allele-specific oligonucleotide hybridization analysis Dundar M et al., 2012
205 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Allele-specific oligonucleotide hybridization analysis Dundar M et al., 2012
206 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions Allele-specific oligonucleotide hybridization analysis Dundar M et al., 2012
207 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions Allele-specific oligonucleotide hybridization analysis Dundar M et al., 2012
208 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions Allele-specific oligonucleotide hybridization analysis Dundar M et al., 2012
209 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions PCR-reverse hybridization assay Moradian MM et al., 2010
210 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions PCR-reverse hybridization assay Moradian MM et al., 2010
211 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions PCR-reverse hybridization assay Moradian MM et al., 2010
212 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions PCR-reverse hybridization assay Moradian MM et al., 2010
213 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions PCR-reverse hybridization assay Moradian MM et al., 2010
214 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions PCR-reverse hybridization assay Moradian MM et al., 2010
215 Substitutions Genomic: g.2360C>T
CDS: c.800C>T
AnimoAcid: p.Thr267Ile		 Substitutions PCR-reverse hybridization assay Moradian MM et al., 2010
216 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Direct sequencing Migita K et al., 2012
217 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Direct sequencing Migita K et al., 2012
218 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Direct sequencing Migita K et al., 2012
219 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Direct sequencing Migita K et al., 2012
220 Substitutions Genomic: g.2165G>A
CDS: c.605G>A
AnimoAcid: p.Arg202Gln		 Substitutions Direct sequencing Migita K et al., 2012
221 Substitutions Genomic: g.9533C>G
CDS: c.1508C>G
AnimoAcid: p.Ser503Cys		 Substitutions Direct sequencing Migita K et al., 2012
222 Substitutions Genomic: g.290G>A
CDS: c.250G>A
AnimoAcid: p.Glu84Lys		 Substitutions Direct sequencing Migita K et al., 2012
223 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Direct sequencing, Direct sequencing Ozalkaya E et al., 2011
224 Substitutions Genomic: g.13222T>A
CDS: c.2081T>A
AnimoAcid: p.Met694Lys		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
225 Substitutions Genomic: g.2002G>C
CDS: c.442G>C
AnimoAcid: p.Glu148Gln		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
226 Substitutions Genomic: g.13221A>G
CDS: c.2080A>G
AnimoAcid: p.Met694Val		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
227 Substitutions Genomic: g.13181G>C
CDS: c.2040G>C
AnimoAcid: p.Met680Ile		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
228 Substitutions Genomic: g.7042C>T
CDS: c.1105C>T
AnimoAcid: p.Pro369Ser		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
229 Substitutions Genomic: g.13318T>C
CDS: c.2177T>C
AnimoAcid: p.Val726Ala		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
230 Substitutions Genomic: g.13423G>A
CDS: c.2282G>A
AnimoAcid: p.Arg761His		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
231 Substitutions Genomic: g.13371G>T
CDS: c.2230G>T
AnimoAcid: p.Ala744Ser		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
232 Substitutions Genomic: g.13223G>A
CDS: c.2082G>A
AnimoAcid: p.Met694Ile		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
233 Substitutions Genomic: g.13225A>G
CDS: c.2084A>G
AnimoAcid: p.Lys695Arg		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012
234 Substitutions Genomic: g.9462C>G
CDS: c.1437C>G
AnimoAcid: p.Phe479Leu		 Substitutions Dideoxy fingerprinting, Pyrosequencing Yesilada E et al., 2012