Table 1.
Variant | Location | Conformation (phenotype) | Note |
Q193C+MMTS | Pre-M1 | LC1 (loss-of-function) | Present study |
Q193L | Pre-M1 | LC1 (loss-of-function) | Present study |
Q193M | Pre-M1 | LC1 (loss-of-function) | Present study |
Y197F-P250C | Pre-M1 | LC1 (wild-type phenotype) | Present study |
I201W- E243C | Pre-M1 | LC2 (nonfunctional) | Present study |
H235F (H11′F) | Upper M2 | LC1 (nonfunctional) | PDB ID code 3TLT |
H235Q (H11′Q) | Upper M2 | LC (loss-of-function) | PDB ID code 5NJY |
N239C (N15′C) | Upper M2 | LC (loss-of-function) | PDB ID code 5NKJ |
E243G (E19′G) | Upper M2 | LC2 (nonfunctional) | Present study |
E243P (E19′P) | Upper M2 | LC2 (nonfunctional) | PDB ID code 3TLS |
P247G (P23′G) | M2-M3 loop | LC2 (loss-of-function) | PDB ID code 5HEG |
T249A (T25′A) | M2-M3 loop | LC1 (nonfunctional) | PDB ID code 4LMJ |
Y251A (Y27′A) | M2-M3 loop | LC1 (nonfunctional) | PDB ID code 4MLM |
Wild-type 10*His | C-terminal 10*His | LC and open coexist | PDB ID code 4NPP |
K33C-T20′C | Loop2 and M2-M3 loop | LC1 (nonfunctional) | PDB ID code 3UU3 |
K33C-N21′C | Loop2 and M2-M3 loop | LC2 (nonfunctional) | PDB ID code 3TLW |
K33C-L22′C | Loop2 and M2-M3 loop | LC3 (loss-of-function) | PDB ID code 3TLV |
K33C-K24′C | Loop 2 and M2-M3 loop | LC1 (nonfunctional) | PDB ID code 3TLU |