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Table 1 Mutations in MyBPC3 gene.

From: Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

A. Missense mutations in the MyBPC3gene

Fam.

Type

Mutation

Exon/

Intron

Ref seq 2920822

Pathogenicity

 

H73

Missense

D75N*

E2

g 2374 G>A

likely

 

H42

Missense

A216T[12]

E5

g3898G>A

uncertain

 

H279

Missense

V471E*

E16

g10774T>A

likely

 

H161

Missense

R495W[13]

E17

g10930C>T

likely

 

H614, H147

Missense

R502Q[11]

E17

g10952G>A

likely

 

H153, H641, H166

Missense

E542Q[14]

E17

g11071G>C

uncertain

 

H120

Missense

T957S[15]

E27

g18572C>G

uncertain

 

H49, H18

Missense

R1022P[16]

E29

g19966G>C

likely

 

H95

Missense

E1179K[17]

E32

g20989G>A

uncertain

 

B. Deletions in the MyBPC3 gene

Fam.

Type

Mutation

Exon/

Intron

Ref seq 2920822

Possible effect

     

Transcript

Traduction

H13

Deletion

Q327fs*

E12

g7364delG

Frameshift

Truncation (X349)

H46

Deletion

K504del[18]

E17

g10957-9delAAG

In frame

One lost aa (X1273)

H37

Deletion

K600fs[18]

E19

g12413delA

Frameshift

Truncation (X601)

H160

Deletion

P955fs[11]

E27

g18566-7delCT

Frameshift

Truncation (X1049)

C. Splice mutations in the MyBPC3 gene

Fam.

Type

Mutation

Exon/

Intron

Ref seq 2920822

Splice site prediction

H56

Splicing

IVS6+5G>A*

I6

g5261G>A

splice error

 

H110

Splicing

IVS11-9G>A*

I11

g7301G>A

splice error

 

H131

Splicing

IVS29+5G>A#

I29

g20096G>A

splice error

 
  1. A: Missense mutations, B: Deletions and C: Splice mutations.
  2. * Not previously described. #unpublished abstract (Yu et al., HUGO's 10th Human Genome Meeting, Poster 279). Fam: Family; E exon; I intron; aa: aminoacid. In missense mutations, at least two ("likely") or less than two ("uncertain") online programs (Polyphen, PMUT, SIFT) predicted a damaging effect. Splice site prediction was assessed by online programs (SSF, ASSP, NetGene2, HSF).