TABLE 1.
Conservation of CPS1 surface residues whose replacements do not destabilize mutant protein and cause CPS1 deficiency.
| Residue ID | Conservation scorea | Amino acids in CPS1 and CPS3 from other species |
|||||
| Mammals | Birds | Reptiles | Amphibians | Fish | Invertebrates | ||
| A43 | 89 | A | A/V/M | A | A | A/T/G | A/T/S/P |
| R233 | 100 | R | R | R | R | R | R |
| K280 | 97 | K | K | K | K | K/N/Q | K/Q/E/T |
| D358 | 100 | D | D | D | D | D | D |
| G401 | 87 | G/E/K/A/N/P | G/E/K | G/E | G | G/E/Q/W | G/K |
| K450 | 99 | K/F | K | K | K | K | K |
| R721 | 100 | R | R | R | R | R | R |
| H1045 | 42 | H/Q | Q | Q | Q | H/Q/R/E | H/Q/E/S |
| Q1059 | 100 | Q | Q | Q | Q | Q | Q |
| R1089 | 100 | R | R | R | R | R | R |
| A1155 | 100 | A | A | A | A | A | A |
| R1228 | 69 (90b) | R/W/Q | R/K/E | R/K | K | R/W/H/Q/C | R/K/Q/A |
| R1262 | 100 | R | R | R | R | R | R |
| D1274 | 100 | D | D | D | D | D | D |
aConservation scores were determined as percent of 233 CPS1 and CPS3 homologs that have the same amino acid as human CPS1 at that position.
bConservation of positively charged amino acids, R or K, in this position.