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Table 6 Overview on 68 MCCC2 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.116C>T

p.S39F

missense

#80/ Dirik et al. 2008

exon 1

c.127C>T

p.Q43*

nonsense

#32/ Dantas et al. 2005

exon 3

c.214C>T

p.R72*

nonsense

#40/ Dantas et al. 2005

exon 3

c.243dupT

p.L81Ifs*7a

insertion/frameshift

Stadler et al. 2006

intron 3

c.281+5G>A

p.?

splice

Stadler et al. 2006

intron 3

c.281+5G>T

p.G67Lfs*35b

splice/exon 3 skippingb

Gallardo et al. 2001

intron3

c.282-1G>C

p.S95_G128delc

splice/exon 4 skipping

#33/ Dantas et al. 2005

exon 4

c.295G>C

p.E99Q

missense

#24, 29, 90, 91/ Baumgartner et al. 2001, Holzinger et al. 2001

exon 4

c.302C>T

p.S101F

missense

Stadler et al. 2006

exon 4

c.351_353delTGG

p.G118del

deletion

#51, 55/ This study

intron 4

c.383+1G>T

p.?

splice

Stadler et al. 2006

intron 4

c.384-2A>G

p.?

splice

Stadler et al. 2006

exon 5

c.392G>T

p.C131F

missense

#99a/ This study

exon 5

c.416_427del12ins16

p.T139_G143>RWVPGEfs*35

deletion/insertion/frameshift

#40, 66/ Dantas et al. 2005

exon 5

c.436T>A

p.Y146N

missense

#66/ This study

exon 5

c.455A>C

p.K152T

missense

#72/ This study

exon 5

c.463C>T

p.R155W

missense

#44, 77/ Dantas et al. 2005

exon 5

c.464G>A

p.R155Q

missense

#22, 63, 67/ Baumgartner et al. 2001

exon 5

c.469C>T

p.Q157*

nonsense

#23/ Dantas et al. 2005

exon 5

c.499T>C

p.C167R

missense

Gallardo et al. 2001

exon 5

c.505T>G

p.Y169D

missense

#100/ This study

intron 5

c.512-1G>Ad

p.?

splice

#82a, 82b/ Baumgartner et al. 2001

exon 6

c.517dupT

p.S173Ffs*25

insertion/frameshift

#39, 85/ Baumgartner et al. 2001,Gallardo et al 2001

exon 6

c.518C>T

p.S173L

missense

#108, 137/ Baumgartner et al. 2001

exon 6

c.538C>T

p.R180*

nonsense

#58/ Stadler et al. 2006

exon 6

c.568C>T

p.H190Y

missense

Dantas et al. 2005

exon 6

c.569A>G

p.H190R

missense

Uematsu et al. 2007

exon 6

c.577C>T

p.R193C

missense

Baumgartner et al. 2001

exon 6

c.578G>A

p.R193H

missense

Stadler et al. 2006

exon 6

c.592C>T

p.Q198*

nonsense

Uematsu et al. 2007

exon 6

c.599T>A

p.I200N

missense

#85/ This study

exon 7

c.652G>A

p.A218T

missense

Gallardo et al. 2001

exon 7

c.653C>T

p.A218V

missense

Morscher et al. 2012

exon 7

c.653_654delCAinsTT

p.A218V

missense

Uematsu et al. 2007

exon 7

c.659G>A

p.G220E

missense

#55/ This study

exon 7

c.671C>T

p.P224L

missense

#78/ This study

exon 7

c.710G>A

p.G237D

missense

#92/ This study

exon 8

c.797A>Te

p.H266Le

missense

Stadler et al. 2006

exon 8

c.803G>C (r.785_803del)

p.R268T (p.G262_R268delfs*5)

missense/splice

#21, 52, 64/ Holzinger et al. 2001, Dantas et al. 2005

exon 9

c.838G>T

p.D280Y

missense

Uematsu et al. 2007

exon 9

c.845A>G

p.H282R

missense

#34/ Dantas et al. 2005

intron 9

c.903+6_903+9delTACG

p.?

splice/RNA nd

#72/ This study

exon 10

c.929C>G

p.P310R

missense

#42/ Baumgartner et al. 2001

exon 10

c.994C>T

p.R332*

nonsense

Dantas et al. 2005

exon 11

c.1015G>A

p.V339M

missense

#67, 81, 90, 111/ Baumgartner et al. 2001

exon 11

c.1019A>T

p.D340V

missense

Stadler et al. 2006

exon 11

c.1054G>A

(r.1054G>A + r.1000_1072delins r.999+858_r.999+922)

p.G352R + (p.V334_G358delins KFFMKYFLRLDLNSYNSTWQH)

missense/splice (skip exon 11, insert 64 bp from intron 10)

Dantas et al. 2005

exon 11

c.1054_1055delGG

p.G352Rfs*27f

deletion/frameshift

Uematsu et al. 2007

exon 11

c.1065A>T

p.L355F

missense

Nguyen et al. 2011

intron 11

c.1073-12C>G (r.1073_1216del+ r.1073insr.1073-48_r.1073-1)

2 transkripts: (p.G358Vfs*6+p. G358Afs*12)

splice/2 transkripts: exon 12 and 13 skipping, insertion of 48 bp from intron 11

#100/ This study

exon 12

c.1123G>T

p.V375F

missense

#39/ Dantas et al. 2005

intron 12

c.1149+1G>T

p.?

splice

#136 / This study

intron12

c.1149+5G>C

p.?

splice

#92/ This study

exon 13

c.1208A>C

p.N403T

missense

Stadler et al. 2006

exon 14

c.1300G>C

p.V434L

missense

#126/ This study

exon 14

c.1309A>G(r.1309A>G+ r.1310_1373del64)

2 transkripts: (p.I437V+p.I437Tfs*15)

missense/splice (cryptic splice donor resulting in deletion of the last 64 bp of exon 14)

#111/ Baumgartner et al. 2001

exon 14

c.1367C>T

p.A456V

missense

#37/ Dantas et al. 2005

exon 15

c.1423G>A

p.G475R

missense

#125/ This study

exon 15

c.1423G>C

p.G475R

missense

#127/ This study

exon 15

c.1430A>G

p.Q477R

missense

Nguyen et al. 2011

exon 15

c.1465C>T

p.Q489*

nonsense

Stadler et al. 2006

exon 16

c.1549G>A

p.G517R

missense

Nguyen et al. 2011

exon 16

c.1559A>C

p.Y520S

missense

Nguyen et al. 2011

exon 16

c.1567A>G

p.S523G

missense

#56, 69/ Morscher et al. 2011

intron 16

c.1574+1G>A

p.F497Gfs*4g

splice, exon 16 skipping

#29, 30/ Dantas et al. 2005

exon 17

c.1624_1625dupGGh

p.L543Vfs*11

insertion/frameshift

Uematsu et al. 2007

exon 17

c.1663A>G

p.K555E

missense

Stadler et al. 2006

exon 17

c.1690T>C

p.X564QLE

add 3 aa at C-terminus

#26/ Dantas et al. 2005

  1. (NG_008882.1 [GenBank at the NCBI] was used as reference sequence. Consensus nomenclature according to approved guidelines (http://www.hgvs.org/mutnomen/)).
  2. nd not detectable
  3. a This mutation has been published as p.L81Lfs*7 in the original paper, nomenclature has been adapted to new approved guidelines.
  4. b For this mutation "MCCB exon 3 skipping, frameshift after residue 66" has been published in the original paper, nomenclature has been adapted to new approved guidelines.
  5. c This mutation has been published as p.G94_S127del in the original paper, nomenclature has been adapted to new approved guidelines.
  6. d This mutation has been published as In5ac-1G→A in the original paper, nomenclature has been adapted to new approved guidelines.
  7. e This mutation has been published as c.979A>T, p.H266L in exon 8 in the original paper. However, c.979A>T would predict an Arginine to Tryptophan change in position 327 (p.R327W). The Histidine to Leucine change in position 266 (p.H266L) could be caused by c.797A>T, therefore, a typing error cannot be excluded.
  8. f This mutation has been published as p.G352RfsX26 in the original paper, nomenclature has been adapted to new approved guidelines.
  9. g This mutation has been published as p.F497_V526>GfsX4 in the original paper, nomenclature has been adapted to new approved guidelines.
  10. h This mutation has been published as c.1625_1626insGG in the original paper, nomenclature has been adapted to new approved guidelines.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172