MVK (NM_000431.3) sequence variants

Editor(s): Laurence CUISSET   

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Total current number of sequence variants for MVK : 211

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
c.-464_-463delGCinsTT5 flankingc.-464_-463delGCinsTT-
 2005-12-29
c.-325A>T5 flankingc.-325A>T-
 2006-04-05
c.-228G>A5 flankingc.-228G>A-
 2005-12-29
c.-207T>A5 flankingc.-207T>A-
 2006-04-13
del EXON 25UTc.-14_78delp.Met1_Lys26del
 2002-05-27
M1Lexon 2c.1A>Cp.?
 2012-01-30
Met1?exon 2c.3G>Cp.?
 2013-02-05
V5Aexon 2c.14T>Cp.Val5Ala
 2010-08-26
L6fsexon 2c.16_34delp.Leu6Glyfs*16
 2004-12-16
V8Lexon 2c.22G>Cp.Val8Leu
 2003-10-13
V8Mexon 2c.22G>Ap.Val8Met
 2013-08-16
V8Eexon 2c.23T>Ap.Val8Glu
 2013-05-06
A10Vexon 2c.29C>Tp.Ala10Val
 2012-01-30
G11Rexon 2c.34G>Cp.Gly12Arg
 2013-02-05
K13Xexon 2c.37A>Tp.Lys13*
 2002-02-05
K13Qexon 2c.37A>Cp.Lys13Gln
 2017-08-16
K13Nfs*68exon 2c.38_39insTCTGp.Lys13Asnfs*68
 2013-08-30
G18Rexon 2c.52G>Ap.Gly18Arg
 2007-08-22
E19Kexon 2c.55G>Ap.Glu19Lys
 2014-04-01
H20Nexon 2c.58C>Ap.His20Asn
 2002-02-05
H20Pexon 2c.59A>Cp.His20Pro
 2002-02-05
H20Qexon 2c.60T>Ap.His20Gln
 2004-12-16
A21Vexon 2c.62C>Tp.Ala21Val
 2012-10-12
V22Mexon 2c.64G>Ap.Val22Met
 2013-08-16
H24Pexon 2c.71A>Cp.His24Pro
 2014-09-26
G25fsexon 2c.72dupTp.Gly25Trpfs*55
 2003-08-04
G25Gexon 2c.75C>Tp.Lys26Serfs*52
 2003-12-15
IVS2+2delTintron 2c.78+2del-
 2007-07-03
c.78+3A>Gintron 2c.78+3A>G-
 2010-07-23
c.78+10C>Tintron 2c.78+10C>T-
 2012-12-07
c.78+61A>Gintron 2c.78+61A>G-
 2004-12-16
c.78+177G>Aintron 2c.78+177G>A-
 2004-12-16
c.79-62G>Aintron 2c.79-62G>A-
 2004-12-16
del EXON 3exon 3c.79_226delp.Val27Serfs*16
 2003-09-23
A28Texon 3c.82G>Ap.Ala28Thr
 2012-10-02
L29fsexon 3c.86delp.Leu29Argfs*5
 2008-02-26
L35Sexon 3c.104T>Cp.Leu35Ser
 2003-07-21
R36Texon 3c.107G>Cp.Arg36Thr
 2011-03-04
L39Pexon 3c.116T>Cp.Leu39Pro
 2002-02-05
R40Wexon 3c.118C>Tp.Arg40Trp
 2010-05-18
R40Lexon 3c.119G>Tp.Arg40Leu
 2013-05-06
L41Pexon 3c.122T>Cp.Leu41Pro
 2013-02-05
H44fsexon 3c.129_130delp.His44Glnfs*35
 2006-09-21
L51Fexon 3c.151C>Tp.Leu51Phe
 2011-03-04
S52Nexon 3c.155G>Ap.Ser52Asn
 2002-02-05
I56Vexon 3c.166A>Gp.Ile56Val
 2013-08-16
W62X(c.185)exon 3c.185G>Ap.Trp62*
 2002-02-05
W62X(c.186)exon 3c.186G>Ap.Trp62*
 2014-05-19
S69Texon 3c.205T>Ap.Ser69Thr
 2014-07-29
c.227-3C>Gintron 3c.227-3C>G-
 2008-04-30
c.227-1G>Aintron 3c.227-1G>A-
 2012-06-12
V80Iexon 4c.238G>Ap.Val80Ile
 2003-10-08
E93fsexon 4c.277_283delp.Glu93Glnfs*38
 2006-09-21
L97fsexon 4c.289delp.Leu97Cysfs*36
 2012-08-30
Y114fsexon 4c.340_344delp.Tyr114Ilefs*71
 2006-09-21
Y116Hexon 4c.346T>Cp.Tyr116His
 2009-09-10
L117Pexon 4c.350T>Cp.Leu117Pro
 2011-03-04
I119Mexon 4c.357C>Gp.Ile119Met
 2004-12-16
R124Wexon 4c.370A>Tp.Arg124Trp
 2013-08-16
c.371+8C>Tintron 4c.371+8C>T-
 2004-12-16
c.371+49A>Gintron 4c.371+49A>G-
 2013-10-01
c.372-6T>Cintron 4c.372-6T>C-
 2012-10-12
c.372-3C>Tintron 4c.372-3C>T-
 2006-05-02
del EXON 5exon 5c.372_527delp.Ala125_Arg176del
 2002-05-27
P127Lexon 5c.380C>Tp.Pro127Leu
 2014-02-24
V132Iexon 5c.394G>Ap.Val132Ile
 2004-12-16
V132Efs*25exon 5c.395delp.Val132Glufs*27
 2013-07-11
W134Xexon 5c.401G>Ap.Trp134*
 2011-03-04
S135Lexon 5c.404C>Tp.Ser135Leu
 2002-02-05
S135Sexon 5c.405G>Ap.(=)
 2004-12-16
G140fsexon 5c.417dupCp.Gly140Argfs*47
 2006-09-21
A141fs (dupG)exon 5c.421dupGp.Ala141Glyfs*46
 2003-08-04
A141fs (delG)exon 5c.421delp.Ala141Argfs*18
 2006-07-04
G142Dexon 5c.425G>Ap.Gly142Asp
 2013-08-16
G144Vexon 5c.431G>Tp.Gly144Val
 2013-05-06
A147Texon 5c.439G>Ap.Ala147Thr
 2006-09-21
A147Aexon 5c.441C>Tp.Ala147Ala
 2017-09-05
A148Texon 5c.442G>Ap.Ala148Thr
 2002-02-05
A148Vexon 5c.443C>Tp.Ala148Val
 2011-03-04
Y149Xexon 5c.447C>Gp.Tyr149*
 2002-02-05
S150Lexon 5c.449C>Tp.Ser150Leu
 2011-09-01
C152fsexon 5c.450_453delp.Cys152Trpfs*6
 2012-07-03
S150Sexon 5c.450G>Ap.(=)
 2013-10-15
T159fsexon 5c.475_478delp.Thr159Cysfs*9
 2011-03-04
C161RfsX25exon 5c.481_482delp.Cys161Argfs*25
 2013-02-05
P165Lexon 5c.494C>Tp.Pro165Leu
 2002-02-05
P167Lexon 5c.500C>Tp.Pro167leu
 2017-08-18
L168fsexon 5c.503_512delinsACp.Leu168Hisfs*16
 2006-09-21
D170Dexon 5c.510C>Tp.(=)
 2002-02-05
G171Rexon 5c.511G>Ap.Gly171Arg
 2004-12-16
D172Dexon 5c.516T>Cp.(=)
 2003-07-22
W188Xexon 6c.564G>Ap.Trp188*
 2003-02-25
Q190fsexon 6c.571delp.Gln191Lysfs*5
 2006-09-21
H197Hexon 6c.591C>Tp.His197His
 2003-10-15
G202Rexon 6c.604G>Ap.Gly202Arg
 2002-02-05
V203fsexon 6c.606_607insGp.Val203Glyfs*74
 2006-09-21
V203Aexon 6c.608T>Cp.Val203Ala
 2004-03-18
D204Eexon 6c.612C>Ap.Asp204Glu
 2012-02-20
N205Dexon 6c.613A>Gp.Asn205Asp
 2006-09-21
T209Aexon 6c.625A>Gp.Thr209Ala
 2002-02-05
c.632-71A>Gintron 6c.632-71A>G-
 2004-12-16
c.632-18A>Gintron 6c.632-18A>G-
 2004-12-16
G211Aexon 7c.632G>Cp.Gly211Ala
 2003-09-12
G211Eexon 7c.632G>Ap.Gly211Glu
 2004-12-16
G212Rexon 7c.634G>Ap.Gly212Arg
 2011-03-10
G212delexon 7c.635_637delp.Gly212del
 2011-05-26
R215Xexon 7c.643C>Tp.Arg215*
 2013-02-05
R215Gexon 7c.643C>Gp.Arg215Gly
 2014-03-10
R215Qexon 7c.644G>Ap.Arg215Gln
 2002-02-05
Q218Xexon 7c.652C>Tp.Gln218*
 2011-03-04
G219Wexon 7c.655G>Tp.Gly219Trp
 2011-03-10
c.678-78delTintron 7c.678-78del-
 2014-03-03
del Exon 8intron 7c.678-1G>Cp.Arg226fs
 2006-09-21
c.678-1G>Aintron 7c.678-1G>Ap.? or p.(Arg226fs)
 2013-08-16
P228Lexon 8c.683C>Tp.Pro228Leu
 2011-09-01
P228Pexon 8c.684A>Gp.(=)
 2006-09-21
L230Pexon 8c.689T>Cp.Leu230Pro
 2010-09-29
L234Pexon 8c.701T>Cp.Leu234Pro
 2006-09-21
T237Sexon 8c.709A>Tp.Thr237Ser
 2006-09-21
R241Cexon 8c.721C>Tp.Arg241Cys
 2008-04-30
T243Iexon 8c.728C>Tp.Thr243Ile
 2003-07-21
L246Pexon 8c.737T>Cp.Leu246Pro
 2003-04-04
V250Iexon 8c.748G>Ap.Val250Ile
 2004-12-16
V250Fexon 8c.748G>Tp.Val250Phe
 2017-08-18
N252Sexon 8c.755A>Gp.Asn252Ser
 2013-08-16
L255Pexon 8c.764T>Cp.Leu255Pro
 2013-02-05
c.768+23G>Cintron 8c.768+23G>C-
 2004-12-16
c.769-103C>Tintron 8c.769-103C>T-
 2005-12-29
c.769-97intron 8c.769-97G>A-
 2012-12-21
c.769-38 C>Tintron 8c.769-38C>T-
 2003-09-18
c.769-7T>Gintron 8c.769-7T>G-
 2004-03-08
c.769-7_769-6dupTintron 8c.769-7_769-6dup-
 2005-01-26
I260Iexon 9c.780C>Ap.(=)
 2003-07-22
V261Aexon 9c.782T>Cp.Val261Ala
 2011-12-07
A262Pexon 9c.784G>Cp.Ala262Pro
 2011-03-17
P263Pexon 9c.789C>Ap.(=)
 2013-08-27
L264Fexon 9c.790C>Tp.Leu264Phe
 2003-07-21
c.790delexon 9c.790delp.Leu264Serfs*2
 2013-02-05
L265Pexon 9c.794T>Cp.Leu265Pro
 2003-07-21
L265Rexon 9c.794T>Gp.Leu265Arg
 2004-10-05
I268Texon 9c.803T>Cp.Ile268Thr
 2002-02-05
D269Hexon 9c.805G>Cp.Asp269His
 2012-01-30
S272Fexon 9c.815C>Tp.Ser272Phe
 2003-07-21
R277Cexon 9c.829C>Tp.Arg277Cys
 2003-07-22
R277Gexon 9c.829C>Gp.Arg277Gly
 2014-03-31
R277Hexon 9c.830G>Ap.Arg277His
 2006-01-04
R277Rexon 9c.831C>Tp.(=)
 2006-04-27
V278Aexon 9c.833T>Cp.Val278Ala
 2012-02-20
L279Pexon 9c.836T>Cp.Leu279Pro
 2013-02-05
E284Kfs*17exon 9c.850delp.Glu284Lysfs*17
 2013-08-30
c.853insAexon 9c.852dupp.Ala285Serfs*15
 2013-07-11
P286Lexon 9c.857C>Tp.Pro286Leu
 2008-02-26
P288Lexon 9c.863C>Tp.Pro288Leu
 2006-05-02
Y291Dexon 9c.871T>Gp.Tyr291Asp
 2013-02-05
V293Mexon 9c.877G>Ap.Val293Met
 2006-05-02
c.885+24G>Aintron 9c.885+24G>A-
 2003-07-25
c.885+117C>Aintron 9c.885+117C>A-
 2017-09-05
c.886-1G>Aintron 9c.886-1G>A-
 2011-09-01
I298Texon 10c.893T>Cp.Ile298Thr
 2011-03-04
N301Texon 10c.902A>Cp.Asn301Thr
 2003-07-22
L308Lexon 10c.924C>Tp.(=)
 2004-12-16
G309Sexon 10c.925G>Ap.Gly309Ser
 2002-02-05
V310Mexon 10c.928G>Ap.Val310Met
 2003-07-22
V310Lexon 10c.928G>Tp.Val310Leu
 2011-03-04
G311Rexon 10c.931G>Cp.Gly311Arg
 2014-04-17
H311Rexon 10c.935A>Gp.His312Arg
 2013-02-05
S314Sexon 10c.942T>Cp.(=)
 2013-08-16
L315Vexon 10c.943C>Gp.Leu315Val
 2013-02-05
L315Gfs*51exon 10c.943_944delp.Leu315Glyfs*51
 2013-08-16
C319Sexon 10c.956G>Cp.Cys319Ser
 2011-05-26
V321Aexon 10c.962T>Cp.Val321Ala
 2011-03-04
T322Sexon 10c.965C>Gp.Thr322Ser
 2006-09-21
R325Rexon 10c.975C>Tp.(=)
 2013-08-16
G326Rexon 10c.976G>Ap.Gly326Arg
 2002-02-06
S329Nexon 10c.986G>Ap.Ser329Asn
 2005-10-06
S329Rexon 10c.987C>Ap.Ser329Arg
 2003-09-23
G333Gexon 10c.999C>Tp.(=)
 2013-08-16
A334Texon 10c.1000G>Ap.Ala334Thr
 2003-07-21
G335Dexon 10c.1004G>Ap.Gly335Asp
 2011-03-04
G335Aexon 10c.1004G>Cp.Gly335Ala
 2013-02-05
G335Gexon 10c.1005C>Tp.(=)
 2006-05-02
G336Sexon 10c.1006G>Ap.Gly336Ser
 2006-05-02
G338Dexon 10c.1013G>Ap.Gly338Asp
 2011-03-04
L343Pexon 10c.1028T>Cp.Leu343Pro
 2013-09-25
E296fsintron 10c.1039+1G>Tp.Glu296Glyfs*14
 2006-08-02
L348IfsX17intron 10c.1039+2T>Cp.Leu348Ilefs*17
 2013-02-05
c.1039+7C>Tintron 9c.1039+7C>T-
 2017-09-05
c.1040-1G>Aintron 10c.1040-1G>A-
 2011-03-04
c.1057delTGGAGGCCACGAAGexon 11c.1058_1071delp.Pro353Leufs*3
 2013-07-11
T356Mexon 11c.1067C>Tp.Thr356Met
 2004-12-16
L357fsexon 11c.1071delp.Lys357Asnfs*4
 2012-01-30
S362Iexon 11c.1085G>Tp.Ser362Ile
 2012-10-02
F364Sexon 11c.1094T>Cp.Phe365Ser
 2013-02-05
D366fsexon 11c.1095_1098delp.Asp366Alafs*110
 2006-09-21
C367Sexon 11c.1100G>Cp.Cys367Ser
 2006-05-02
I372Mexon 11c.1116C>Gp.Ile372Met
 2013-08-30
G376Sexon 11c.1126G>Ap.Gly376Ser
 2011-03-04
G376Vexon 11c.1127G>Tp.Gly376Val
 2004-12-16
V377Iexon 11c.1129G>Ap.Val377Ile
 2002-02-05
S378Pexon 11c.1132T>Cp.Ser378Pro
 2005-03-07
I379Nexon 11c.1136T>Ap.Ile379Asn
 2011-03-04
H380Rexon 11c.1139A>Gp.His380Arg
 2003-08-29
A382Pexon 11c.1144G>Cp.Ala382Pro
 2012-12-03
S384Fexon 11c.1151C>Tp.Ser384Phe
 2009-10-16
D386Nexon 11c.1156G>Ap.Asp386Asn
 2008-02-26
R388Xexon 11c.1162C>Tp.Arg388*
 2006-05-10
Q390Pexon 11c.1169A>Cp.Gln390Pro
 2011-03-04
Stop397Rexon 11c.1189T>Cp.*397Argext*34
 2012-06-13
c.1202C>T3UTc.*11C>T-
 2004-12-16
c.*35C>T3UTc.*35C>T-
 2017-09-05
1245-1246INSG3UTc.*54_55insG-
 2002-05-27