MVK
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.1187A>C
CDS: c.59A>C
AnimoAcid: p.His20Pro		 Substitutions Direct sequencing Houten SM et al., 1999
2 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing Houten SM et al., 1999
3 Substitutions Genomic: g.22821G>A
CDS: c.1129G>A
AnimoAcid: p.Val377Ile		 Substitutions Direct sequencing Houten SM et al., 1999
4 Substitutions Genomic: g.7771G>A
CDS: c.442G>A
AnimoAcid: p.Ala148Thr		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
5 Substitutions Genomic: g.7840G>C
CDS: c.511G>C
AnimoAcid: p.Gly171Arg		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
6 Substitutions Genomic: g.13072G>A
CDS: c.644G>A
AnimoAcid: p.Arg215Gln		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
7 Substitutions Genomic: g.7723G>A
CDS: c.394G>A
AnimoAcid: p.Val132Ile		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
8 Substitutions Genomic: g.13060G>A
CDS: c.632G>A
AnimoAcid: p.Gly211Glu		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
9 Substitutions Genomic: g.1188T>A
CDS: c.60T>A
AnimoAcid: p.His20Gln		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
10 Substitutions Genomic: g.22819G>T
CDS: c.1127G>T
AnimoAcid: p.Gly376Val		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
11 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
12 Substitutions Genomic: g.17572T>G
CDS: c.794T>G
AnimoAcid: p.Leu265Arg		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
13 Substitutions Genomic: g.22821G>A
CDS: c.1129G>A
AnimoAcid: p.Val377Ile		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
14 Substitutions Genomic: g.17147G>A
CDS: c.748G>A
AnimoAcid: p.Val250Ile		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
15 Substitutions Genomic: g.21376G>A
CDS: c.928G>A
AnimoAcid: p.Val310Met		 Substitutions Direct sequencing, Denaturing HPLC D Osualdo A et al., 2005
16 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing Cuisset L et al., 2001
17 Substitutions Genomic: g.21373G>A
CDS: c.925G>A
AnimoAcid: p.Gly309Ser		 Substitutions Direct sequencing Cuisset L et al., 2001
18 Substitutions Genomic: g.1187A>C
CDS: c.59A>C
AnimoAcid: p.His20Pro		 Substitutions Direct sequencing Cuisset L et al., 2001
19 Substitutions Genomic: g.2341T>C
CDS: c.116T>C
AnimoAcid: p.Leu39Pro		 Substitutions Direct sequencing Cuisset L et al., 2001
20 Substitutions Genomic: g.13072G>A
CDS: c.644G>A
AnimoAcid: p.Arg215Gln		 Substitutions Direct sequencing Cuisset L et al., 2001
21 Substitutions Genomic: g.22821G>A
CDS: c.1129G>A
AnimoAcid: p.Val377Ile		 Substitutions Direct sequencing Cuisset L et al., 2001
22 Substitutions Genomic: g.12404G>A
CDS: c.604G>A
AnimoAcid: p.Gly202Arg		 Substitutions Direct sequencing Cuisset L et al., 2001
23 Substitutions Genomic: g.1186C>A
CDS: c.58C>A
AnimoAcid: p.His20Asn		 Substitutions Direct sequencing Cuisset L et al., 2001
24 Substitutions Genomic: g.7778C>T
CDS: c.449C>T
AnimoAcid: p.Ser150Leu		 Substitutions Direct sequencing Cuisset L et al., 2001
25 Substitutions Genomic: g.21424G>A
CDS: c.976G>A
AnimoAcid: p.Gly326Arg		 Substitutions Direct sequencing Cuisset L et al., 2001
26 Substitutions Genomic: g.7829C>T
CDS: c.500C>T
AnimoAcid: p.Pro167Leu		 Substitutions Direct sequencing Cuisset L et al., 2001
27 Deletion Genomic: g.5991_6135del
CDS: c.227_371del
AnimoAcid: p.Glu76fs		 Deletion Direct sequencing Cuisset L et al., 2001
28 Deletion Genomic: g.1144_1162del
CDS: c.16_34del
AnimoAcid: p.Leu6GlyfsX15		 Deletion Denaturing HPLC, Direct sequencing D Osualdo A et al., 2005
29 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing Houten SM et al., 1999
30 Substitutions Genomic: g.1187A>C
CDS: c.59A>C
AnimoAcid: p.His20Pro		 Substitutions Direct sequencing Houten SM et al., 1999
31 Substitutions Genomic: g.21376G>A
CDS: c.928G>A
AnimoAcid: p.Val310Met		 Substitutions Direct sequencing Houten SM et al., 1999
32 Substitutions Genomic: g.21448G>A
CDS: c.1000G>A
AnimoAcid: p.Ala334Thr		 Substitutions Direct sequencing, Restriction enzyme analysis Hinson DD et al., 1997
33 Substitutions Genomic: g.7829C>T
CDS: c.500C>T
AnimoAcid: p.Pro167Leu		 Substitutions Direct sequencing Drenth JP et al., 1999
34 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing Drenth JP et al., 1999
35 Substitutions Genomic: g.22821G>A
CDS: c.1129G>A
AnimoAcid: p.Val377Ile		 Substitutions Direct sequencing Drenth JP et al., 1999
36 Substitutions Genomic: g.21350A>C
CDS: c.902A>C
AnimoAcid: p.Asn301Thr		 Substitutions Allele-specific oligonucleotide hybridization analysis, Direct sequencing, PCR based assay, Southern blotting Schafer BL et al., 1992
37 Substitutions Genomic: g.1187A>C
CDS: c.59A>C
AnimoAcid: p.His20Pro		 Substitutions Direct sequencing Houten SM et al., 2000
38 Substitutions Genomic: g.17568C>T
CDS: c.790C>T
AnimoAcid: p.Leu264Phe		 Substitutions Direct sequencing Cuisset L et al., 2001
39 Substitutions Genomic: g.1165A>T
CDS: c.37A>T
AnimoAcid: p.Lys13X		 Substitutions Direct sequencing Houten SM et al., 2001
40 Substitutions Genomic: g.7771G>A
CDS: c.442G>A
AnimoAcid: p.Ala148Thr		 Substitutions Direct sequencing Houten SM et al., 2001
41 Substitutions Genomic: g.7776C>G
CDS: c.447C>G
AnimoAcid: p.Tyr149X		 Substitutions Direct sequencing Houten SM et al., 2001
42 Substitutions Genomic: g.7733C>T
CDS: c.404C>T
AnimoAcid: p.Ser135Leu		 Substitutions Direct sequencing Houten SM et al., 2001
43 Substitutions Genomic: g.2410G>A
CDS: c.185G>A
AnimoAcid: p.Trp62X		 Substitutions Direct sequencing Houten SM et al., 2001
44 Substitutions Genomic: g.2341T>C
CDS: c.116T>C
AnimoAcid: p.Leu39Pro		 Substitutions Direct sequencing Houten SM et al., 2001
45 Substitutions Genomic: g.22821G>A
CDS: c.1129G>A
AnimoAcid: p.Val377Ile		 Substitutions Direct sequencing Houten SM et al., 2001
46 Substitutions Genomic: g.1187A>C
CDS: c.59A>C
AnimoAcid: p.His20Pro		 Substitutions Direct sequencing Houten SM et al., 2001
47 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing Houten SM et al., 2001
48 Substitutions Genomic: g.21448G>A
CDS: c.1000G>A
AnimoAcid: p.Ala334Thr		 Substitutions Direct sequencing Houten SM et al., 2001
49 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing, PCR based assay Hinson DD et al., 1999
50 Substitutions Genomic: g.21350A>C
CDS: c.902A>C
AnimoAcid: p.Asn301Thr		 Substitutions Direct sequencing, PCR based assay Hinson DD et al., 1999
51 Substitutions Genomic: g.17127C>T
CDS: c.728C>T
AnimoAcid: p.Thr243Ile		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Hinson DD et al., 1999
52 Substitutions Genomic: g.17568C>T
CDS: c.790C>T
AnimoAcid: p.Leu264Phe		 Substitutions Direct sequencing, PCR based assay Hinson DD et al., 1999
53 Substitutions Genomic: g.21448G>A
CDS: c.1000G>A
AnimoAcid: p.Ala334Thr		 Substitutions Direct sequencing, PCR based assay Hinson DD et al., 1999
54 Substitutions Genomic: g.22821G>A
CDS: c.1129G>A
AnimoAcid: p.Val377Ile		 Substitutions Direct sequencing, PCR based assay Stojanov S et al., 2004
55 Substitutions Genomic: g.12364G>A
CDS: c.564G>A
AnimoAcid: p.Trp188X		 Substitutions Direct sequencing, PCR based assay Stojanov S et al., 2004
56 Substitutions Genomic: g.12408T>C
CDS: c.608T>C
AnimoAcid: p.Val203Ala		 Substitutions Direct sequencing, PCR based assay Stojanov S et al., 2004
57 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing, PCR based assay Stojanov S et al., 2004
58 Substitutions Genomic: g.21424G>A
CDS: c.976G>A
AnimoAcid: p.Gly326Arg		 Substitutions Direct sequencing Naruto T et al., 2009
59 Substitutions Genomic: g.22821G>A
CDS: c.1129G>A
AnimoAcid: p.Val377Ile		 Substitutions Direct sequencing Sornsakrin M et al., 2009
60 Substitutions Genomic: g.17581T>C
CDS: c.803T>C
AnimoAcid: p.Ile268Thr		 Substitutions Direct sequencing Sornsakrin M et al., 2009
61 Substitutions Genomic: g.22821G>A
CDS: c.1129G>A
AnimoAcid: p.Val377Ile		 Substitutions Direct sequencing Kone-Paut I et al., 2007
62 Substitutions Genomic: g.7733C>T
CDS: c.404C>T
AnimoAcid: p.Ser135Leu		 Substitutions Direct sequencing Kone-Paut I et al., 2007
63 Substitutions Genomic: g.22831A>G
CDS: c.1139A>G
AnimoAcid: p.His380Arg		 Substitutions Direct sequencing Tahara M et al., 2011
64 Substitutions Genomic: g.17562G>C
CDS: c.784G>C
AnimoAcid: p.Ala262Pro		 Substitutions Direct sequencing Tahara M et al., 2011