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Table 5 Overview on 64 MCCC1 mutant alleles and their consequences

From: 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Exon/Intron

Nucleotide change at cDNA level

Amino acid change (at RNA level)

Consequence

Patients, in whom this mutation was found in this study/ Reference of first description of the mutation

exon 1

c.43GC>T

p.E15*

nonsense

Morscher et al. 2012

intron 1

c.89+2_89+34del

p.?

splice

Morscher et al. 2012

intron 2

c.137-2A>G

p.?

splice

Stadler et al. 2006

exon 3

c.137G>A

p.G46E

missense

Nguyen et al. 2011

exon 3

c.168C>G

p.N56K

missense

Morscher et al. 2012

exon 3

c.193A>T

p.M65L

missense

#113/ This study

exon 3

c.227_228delTG

p.V76Gfs*4

frameshift

unpublisheda

exon 3

c.251_252delGAb

p.R84Kfs*10

deletion/frameshift

Stadler et al. 2006

exon 4

c.369G>C

p.Q123H

missense

Stadler et al. 2006

exon 5

c.375C>G

p.I125M

missense

Stadler et al. 2006

exon 5

c.400G>A

p.E134K

missense

#32/ Dantas et al. 2005

exon 5

c.479T>G

p.M160R

missense

Stadler et al. 2006

exon 6

c.539G>T

p.G180V

missense

#83/ This study

exon 6

c.558delA

p.Q186Hfs*6

deletion/frameshift

#83, 93a/ Morscher et al. 2012

exon 6

c.559T>C

p.S187P

missense

#20, Dantas et al. 2005

intron 6

c.639+2T>A

p.S164Rfs*3

splice, exon 6 skipping

#54/ This study

exon 7

c.640_641delGG

p.G214Nfs*5c

deletion/frameshift

#43a, 43b/ Dantas et al. 2005

exon 7

c.658_662delTCAGA

p.S220Tfs*15

deletion/frameshift

#112/ This study

exon 7

c.694C>T

p.R232W

missense

#41/ Dantas et al. 2005

intron 7

c.762-1G>A

p. ?

splice

Nguyen et al. 2011

exon 8

c.803C>A

p.A268D

missense

#115/ This study

exon 8

c.841C>T

p.R281*

nonsense

Morscher et al. 2012

exon 8

c.842G>A

p.R281Q

missense

Morscher et al. 2012

exon 8

c.863A>G

p.E288G

missense

#57/ This study

exon 8

c.866C>T

p.A289V

missense

Baumgartner et al. 2001

exon 8

c.872C>T

p.A291V

missense

#25/ Dantas et al. 2005

intron 8 + exon 9

c.873+4524_6787del2264

2 transkripts: p.P292Gfs*18 p.P292_R361del

large deletion, exon 9 and exon 9 and 10 skipping

#62, 96a, 96c/ Eminoglu et al. 2009

exon 9

c.901_902delAA

p.K301Afs*10

deletion/ frameshift

Uematsu et al. 2007

exon 9

c.945T>A

p.Y315*

nonsense

Stadler et al. 2006

exon 10

c.974T>G

p.M325R

missense

Gallardo et al. 2001

exon 10

c.980C>G

p.S327*

nonsense

#54/ Morscher et al. 2012

exon 10

not published

p.Q372P

missense

Desviat et al. 2003

exon 11

c.1114C>T

p.Q372*

nonsense

#50/ This study

exon 11

c.1135G>A

p.G379S

missense

Stadler et al. 2006

exon 11

c.1136G>A

p.G379D

missense

#71/ This study

exon 11

c.1139A>C

p.H380P

missense

Morscher et al. 2012

exon 11

c.1155A>C

p.R385S

missense

#20, 27, 28, 31, 53, 68, 105, 115, 138/ Baumgartner et al. 2001, Gallardo et al. 2001

exon 11

c.1193_1194delTG

p.V398Gfs*19

deletion/frameshift

#113/ This study

exon 11

c.1225C>T

p.R409*

nonsense

Stadler et al. 2006

exon 11

c.1264_1265insGd

p.Q422Rfs*10d

insertion/frameshift

Baumgartner et al. 2001

intron 11

c.1268-2A>G

p.G423Efs*15

splice, exon 12/13 skipping

Stadler et al. 2006

exon 12

c.1302T>G

p.I434M

missense

#74/ This study

exon 12

c.1310T>C

p.L437P

missense

Baumgartner et al. 2001

exon 12

c.1315G>A

p.V439M

missense

#53/ This study

exon 12

c.1333C>T

p.Q445*

nonsense

Morscher et al. 2011

exon13

c.1380T>G

p.I460M

missense

Uematsu et al. 2007

exon 13

c.1522_1544del

p.L508Hfs*17

deletion

Morscher et al. 2012

exon 13

c.1526delGe

p.C509Sfs*14

deletion/frameshift

#46, 59, 73c, 87/ Dantas et al. 2005

exon 13

c.1527C>A

p.C509*

nonsense

#36/ Dantas et al. 2005

exon 13

c.1541dupG

p.L515Sfs*18

insertion/frameshift

Morscher et al. 2012

exon 13

c.1594G>C

p.D532H

splice

Baumgartner et al. 2001

intron 13

c.1594+3A>G

p.V461Nfs*13

splice, exon 13 skipping

Morscher et al. 2012

exon 14

c.1604C>T

p.S535F

missense

Holzinger et al. 2001

intron 14

c.1681+5G>A

p.Q533_N561del

splice, exon 14 skipping

Stadler et al. 2006

intron 14

c.1682-3A>G

p.N561Kfs*10

splice/frameshift

Dantas et al. 2005

exon 15

c.1695_1700del

p.V566_T567del

deletion

Morscher et al. 2012

exon 16

c.1750C>T

p.Q584*

nonsense

Uematsu et al. 2007

exon 16

c.1820delG

p.S607Ifs*5

deletion/frameshift

#103/ This study

exon 17

c.1882G>T

p.E628*

nonsense

#50/ This study

exon 17

c.1930G>T

p.E644*

nonsense

#43a, 43b/ Dantas et al. 2005

exon 18

c.2009_2043del35

p.A670Dfs*34

deletion/frameshift

#138/ This study

exon 19

c.2079delA

p.V694*

nonsense

#60, 70a/ Holzinger et al. 2001

exon 19

c.2088dupA

p.V697Sfs*19

insertion/frameshift

#46/ Dantas et al. 2005

exon 19

c.2123dupA

p.H708Qfs*8

insertion/frameshift

#74/ This study

  1. a Found in our laboratory in a heterozygous individual, not yet published.b Published in the original paper as c.250_251delAG (p.R84Kfs*9), however AG is not found at this position in the reference sequence, but GA instead.c Published in the original paper as p.G214IfsX5, nomenclature has been adapted to new approved guidelines.d Published in the original paper as c.1264insG, Q421fs(+1), nomenclature has been adapted to new approved guidelines.e Mainly found in patients from the Faroe Islands.
  2. (NG_008100.1 [GenBank at the NCBI] was used as reference sequence. Consensus nomenclature according to approved guidelines (http://www.hgvs.org/mutnomen/))