TABLE 1.
A summary of reported cases of LAMA2 missense mutation.
| References | Exon | Variants | Predicted amino acid change | Protein domains | Phenotype |
| Oliveira | 1 | c.112G > A | p.Gly38Ser | N-terminal | MDC1A |
| Oliveira | 2 | c.245A > T | p.Gln82Leu | N-terminal | Late-onset LAMA2-related MD |
| Ganapathy | 2 | c.250C > T | p.Arg84Ter | N-terminal | MDC1A |
| Oliveira | 3 | c.437C > T | p.Ser146Phe | N-terminal | MDC1A |
| Gavassini | 4 | c.454T > G | p.Trp152Gly | N-terminal | LGMD |
| Geranmayeh | 4 | c.470C > T | p.Ser157Phe | N-terminal | MDC1A |
| Di Blasi | 4 | c.500A > C | p.Gln167Pro | N-terminal | MDC1A |
| Harris | 4 | c.611C > T | p.Ser204Phe | N-terminal | LGMD |
| Dean | 5 | c.713C > A | p.Ala238Asp | N-terminal | LGMD |
| Gavassini | 5 | c.728T > C | p.Leu243Pro | N-terminal | LGMD |
| Oliveira | 5 | c.745C > T | p.Arg249Cys | N-terminal | MDC1A |
| Marques | 5 | c.812C > T | p.Thr271Ile | N-terminal | Epileptic encephalopathy |
| Oliveira | 5 | c.818G > A | p.Arg273Lys | N-terminal | MDC1A |
| Beytía | 6 | c.830C > T | p.Ser277Leu | N-terminal | MDC1A |
| Gavassini | 6 | c.850G > A | p.Gly284Arg | N-terminal | LGMD |
| Oliveira | 10 | c.1326T > G | p.Cys442Trp | EGF-like 3 | MDC1A |
| Töpf | 10 | c.1466A > G | p.Lys489Arg | EGF-like 4 | LGMD |
| Xiong H | 11 | c.1553G > A | p.Cys518Tyr | EGF-like 5; first part | MDC1A |
| Tezak/Valencia | 11 | c.1580G > A | p.Cys527Tyr | EGF-like 5; first part | MDC1A |
| Ganapathy | 12 | c.1749C > G | p.Tyr583Ter | IV type A 1 | MDC1A |
| Beytía | 14 | c.2089A > G | p.Ile697Val | IV type A 1 | MDC1A |
| Marques | 18 | c.2461A > C | p.Thr821Pro | EGF-like 7 | Epileptic encephalopathy |
| Xiong H | 18 | c.2462C > T | p.Thr821Met | EGF-like 7 | MDC1A |
| Tezak | 19 | c.2584T > C | p.Cys862Arg | EGF-like 7 | MDC1A |
| Allamand | 21 | c.2954G > A | p.Cys985Tyr | EGF-like 10 | MDC1A |
| Guicheney | 21 | c.2986T > C | p.Cys996Arg | EGF-like 10 | MDC1A |
| Valencia | 22 | c.3154A > G | p.Ser1052Gly | EGF-like 11 | MDC1A |
| Töpf | 23 | c.3235T > C | p.Cys1079Arg | EGF-like 12 | LGMD |
| Oliveira | 23 | c.3235T > G | p.Cys1079Gly | EGF-like 12 | Late-onset LAMA2-related MD |
| Xiong H | 27 | c.3931T > G | p.Trp1311Gly | IV type A 2 | MDC1A |
| Ganapathy | 27 | c.4048C > T | p.Arg1350Ter | IV type A 2 | MDC1A |
| Ganapathy | 29 | c.4198C > T | p.Arg1400Ter | EGF-like 14; second part | MDC1A |
| Di Blasi | 30 | c.4405T > C | p.Cys1469Arg | EGF-like 16 | MDC1A |
| Oliveira | 31 | c.4523G > A | p.Arg1508Lys | EGF-like 16 | MDC1A |
| Wang | 32 | c.4640C > T | p.Thr1547Met | EGF-like 17 | MDC1A |
| Oliveira | 32 | c.4654G > A | p.Ala1552Thr | EGF-like 17 | MDC1A |
| Allamand | 32 | c.4690C > T | p.His1564Tyr | EGF-like 17 | MDC1A |
| Tezak | 33 | c.4750G > A | p.Gly1584Ser | Domain II and I | MDC1A |
| Afshin | 33 | c.4840A > G | p.Asn1614Asp | Domain II and I | MDC1A |
| Geranmayeh | 38 | c.5530C > A | p.Arg1844Ser | Domain II and I | MDC1A |
| Oliveira | 46 | c.6548T > G | p.Leu2183Arg | G-like 1 | MDC1A |
| Giugliano | 47 | c.6599G > A | p.Arg2200His | G-like 1 | MDC1A |
| Töpf | 47 | c.6624G > C | p.Trp2208Cys | G-like 1 | LGMD |
| Oliveira | 47 | c.6707G > A | p.Arg2236Lys | G-like 1 | LGMD |
| Töpf | 49 | c.7040G > T | p.Gly2347Val | G-like 2 | LGMD |
| Ganapathy | 50 | c.7147C > T | p.Arg2383Ter | G-like 2 | MDC1A |
| Gavassini | 52 | c.7431A > T | p.Arg2477Ser | G-like 2 | LGMD |
| Oliveira | 54 | c.7571A > T | p.Glu2524Val | – | MDC1A |
| Afshin | 55 | c.7681G > A | p. Gly2561Ser | G-like 3 | MDC1A |
| He | 55 | c.7691T > C | p.Leu2564Pro | G-like 3 | MDC1A |
| Ganapathy | 56 | c.7816del | p.Met2606Ter | G-like 3 | MDC1A |
| Geranmayeh | 56 | c.7881T > G | p.His2627Gln | G-like 3 | MDC1A |
| Xiong H | 56 | c.7898G > C | p.Gly2633Ala | G-like 3 | MDC1A |
| Magri | 60 | c.8544C > G | p.His2848Gln | G-like 4 | LGMD |
| Töpf | 61 | c.8654T > A | p.Leu2885Gln | G-like 4 | LGMD |
| Liang | 61 | c.8654T > C | p.Leu2885Pro | G-like 4 | MDC1A |
| Fattahi | 61 | c.8665G > A | p.Gly2889Arg | G-like 4 | MDC1A |