Table 1. Missense SNPs in human CAPN8 and CAPN9 and related LGMD2A pathogenic mutations in CAPN3.
| calpain | SNPs*1 | domain | Allele frequency (No. in parentheses: chromosome sample count)*2 | Conser-vation*3 | LGMD2A*4 | Note |
| calpain 8 (NP_001137434) | A136V | IIa | N.D. | 11/14 | A160Q, A160P | |
| S245Y | IIb | N.D. | 3/14 | |||
| Q386fs:PVQNPFG* | IIb | N.D. | - | |||
| calpain 9 (NP_006606) | A102V | IIa | global (178): 0.017, European (120)African American (124), [unknown] (120): 0Sub-Saharan African (120), Asian (178): 0.078 | 13/14 | Next to A133V | A133 of calpain 3 is also well conserved (11/14). |
| S122R | IIa | global (180): 0.100, multiple (68): 0.074[unknown] (118): 0.102, European (118): 0.136African American (122): 0.172Sub-Saharan African (120): 0.233Asian (180): 0.067 | 8/14 | |||
| D164N | IIa | global (180): 0.006 | 1/14 | |||
| I234T | IIb | global (172): 0.006, multiple (76): 0.013 | 6/14 | |||
| A239T | IIb | global (180): 0.006, multiple (78): 0.013 | 4/14 | |||
| R277W | IIb | global (178): 0.006 | 11/14 | R357W | ||
| K322Q | IIb | global (178): 0.270, multiple (78): 0.282[unknown] (52): 0.308, European (356): 0.267African American (258): 0.340Sub-Saharan African (356): 0.419Caucasian (92): 0.360, Asian (872): 0.177 | 1/14 | |||
| H327Q | IIb | global (178): 0.034, multiple (78): 0.038Sub-Saharan African (120): 0.200European (120): 0, Asian (180): 0 | 5/14 | |||
| E342K | IIb/III | global (180): 0.039, multiple (78): 0.064[unknown] (120): 0.017, European (408): 0African American (170): 0.088Sub-Saharan African (360): 0.158Asian (588): 0 | 2/14 | |||
| R458W | III | global (166): 0.006 | 8/14 | |||
| L468R | III | multiple (78): 0.013 | 3/14 | |||
| R522W | IV | global (178): 0.197, multiple (72): 0.181[unknown] (118): 0.186European (408): 0.157, Asian (654): 0.072Sub-Saharan African (356): 0.250African American (166): 0.356 | 1/9 | |||
| K553fs:RTSNSRS* | IV | N.D. | - | Deletion of 2nd to 5th EF-hand motifs | ||
| M611I | IV | global (178): 0.056, multiple (76): 0.079[unknown] (120): 0.017, European (408): 0African American (170): 0.259Sub-Saharan African (360): 0.192Asian (588): 0 | 4/9 | |||
| K673fs:GVHSSQYK* | IV | N.D. | - | Deletion of 5th EF-hand motif |
*1: From the NCBI SNP database: http://www.ncbi.nlm.nih.gov/SNP/.
*2: Multiple data were combined to obtain the total ratio.
*3: Domains IIa and IIb of human CAPN1–3, 5–14, and SOLH, domain III of human CAPN1–3, 5–9,11–14, and CAPN10 (two domains), and domain IV of human CAPN1–3, 8–9, 11–14 were compared, and identical residues were counted.
*4: From the Leiden Muscular Dystrophy database: http://www.dmd.nl/capn3_home.html. The residue numbers correspond to that of calpain 3/p94 (NP_000061).