Table 1.
OBSCN (NP-001092093) | OBSCN (NP-001258152) | |||||
---|---|---|---|---|---|---|
Mutation | Domain | Mutation | Domain | Disease | Genotype | Reference |
Missense mutations | ||||||
E963K | Ig10 | E1055K | Ig11 | DCM | Het | Marston et al. 2015 |
V2161D | Ig23 | V2536D | Ig27 | DCM | Compound Het | Marston et al. 2015 |
F2809V | Ig29 | F3238 V | Ig34 | DCM | Compound Het | Marston et al. 2015 |
R4344Q | Ig47 | R5304Q | Ig58 | HCM | Compound Het | Arimura et al. 2007 |
R4444W | Ig48 | R5401W | Ig59 | Distal muscular dystrophy | Compound Het | Rossi et al. 2017 |
A4484T | Ig48 | A5441T | Ig59 | HCM | Compound Het | Arimura et al. 2007 |
R4856H | Between Ig50 and IQ | R5813H | Between Ig61 and Ig62 | DCM | Het | Marston et al. 2015 |
R5215H | Ig52 | R6172H | Ig63 | HCM | Het | Xu et al. 2015 |
G7500R | Ig58 | G8457R | Ig69 | HCM | Het | Xu et al. 2015 |
D5966N | PH | D6923N | PH | DCM | Het | Marston et al. 2015 |
W7910R | Kin2 | W8865R | Kin2 | Systolic HF/ hereditary ataxia | Het | Catalano et al. 2018 |
Frameshift mutations | ||||||
A996fs | Ig11 | A1088fs | Ig12 | HCM | Het | Xu et al. 2015 |
A1088fs | Ig12 | A1180fs | Ig13 | HCM | Het | Xu et al. 2015 |
A1272fs | Ig14 | A1364fs | Ig15 | HCM | Het | Xu et al. 2015 |
A1640fs | Ig18 | A2015fs | Ig22 | HCM | Het | Xu et al. 2015 |
T6309Rfs*53 | Between Ig56 and Ig57 | T7266Rfs*53 | Between Ig67 and Ig68 | LVNC | Het | Rowland et al. 2015 |
S6990Pfs*82 | Between Kin1 and Ig58 | S7947Pfs*82 | Between Kin1 and Ig69 | LVNC | Het | Rowland et al. 2015 |
A6993Pfs*79 | Between Kin1 and Ig58 | A7950Pfs*79 | Between Kin1 and Ig69 | DCM | Het | Rowland et al. 2015 |
Splicing mutations | ||||||
c. 25367–1 G>C | Ig58 | c. 25367–1 G>C | Ig58 | LVNC | Het | Rowland et al. 2015 |
Ig immunoglobulin, IQ isoleucine/glutamine, PH pleckstrin homology, Kin1 obscurin kinase 1, Kin2 obscurin kinase 2, HCM hypertrophic cardiomyopathy, DCM dilated cardiomyopathy, HF heart failure, LVNC left ventricular non-compaction