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 |