TABLE 1.
Key-residues identified using the centralities of the FIX RIN.
| Group | Pos. a | AA | Dom. | Rel. Exp. Area b | Degree b | Betw. b | Burt’s Constr. b | Conserv. c | Severity d | Struct. e | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sev. | Mod. | Mild | ||||||||||
| HDHB | 87 | Phe | Gla | 31.1 | 99.4 | 92.8 | 11.4 | 8 | 3 | 2 | 1 | H |
| 88 | Trp | Gla | 35.3 | 99.4 | 86.1 | 16.4 | 8 | 1 | — | — | H | |
| 240 | Trp | SP | 25.3 | 99.4 | 95.6 | 3.9 | 8 | 7 | 4 | 1 | T | |
| 256 | Ile | SP | 6.4 | 100.0 | 91.1 | 2.5 | 8 | 1 | — | — | E | |
| 282 | His | SP | 11.1 | 99.4 | 85.6 | 3.3 | 5 | 1 | — | 3 | T | |
| 316 | Ile | SP | 7.5 | 99.4 | 82.8 | 0.3 | 8 | 7 | 4 | — | C | |
| 358 | Arg | SP | 41.7 | 99.4 | 80.6 | 9.2 | 3 | 1 | — | 1 | T | |
| 410 | Asp | SP | 30.6 | 99.7 | 90.0 | 1.1 | 9 | 7 | 4 | — | T | |
| 424 | Phe | SP | 9.7 | 99.4 | 99.2 | 2.2 | 2 | 7 | — | — | E | |
| 444 | Tyr | SP | 6.4 | 99.4 | 88.6 | 0.6 | 9 | — | 1 | — | E | |
| 450 | Tyr | SP | 10.5 | 99.4 | 83.6 | 6.7 | 6 | 4 | 1 | 1 | H | |
| LDHB | 48 | Asn | Gla | 64.7 | 29.2 | 89.2 | 74.7 | 6 | 2 | 8 | 1 | C |
| 97 | Cys | EGF-1 | 51.1 | 29.2 | 81.9 | 78.6 | 9 | 5 | 1 | 2 | T | |
| 107 | Ser | EGF-1 | 75.8 | 18.3 | 98.3 | 73.1 | 1 | — | — | — | E | |
| 109 | Lys | EGF-1 | 57.8 | 29.2 | 96.9 | 75.8 | 3 | — | — | — | E | |
| 111 | Asp | EGF-1 | 68.6 | 29.2 | 97.2 | 72.8 | 2 | — | — | — | T | |
| 125 | Gly | EGF-1 | 59.4 | 18.3 | 79.4 | 80.6 | 8 | 4 | — | — | T | |
| 161 | Tyr | EGF-2 | 67.5 | 29.2 | 87.5 | 35.3 | 7 | 2 | 2 | — | T | |
| LDLB | 47 | Tyr | Gla | 100.0 | 0.8 | 3.3 | 74.7 | 5 | — | — | — | C |
| 81 | Thr | Gla | 90.0 | 7.8 | 3.3 | 78.6 | 1 | — | — | — | C | |
| 99 | Ser | EGF-1 | 96.9 | 7.8 | 3.3 | 73.1 | 5 | — | — | — | T | |
| 149 | Ala | EGF-2 | 98.6 | 7.8 | 3.9 | 75.8 | 1 | — | — | — | T | |
| 160 | Gly | EGF-2 | 99.7 | 0.3 | 3.3 | 72.8 | 8 | 5 | 10 | 4 | T | |
| 165 | Glu | EGF-2 | 91.7 | 7.8 | 3.3 | 80.6 | 2 | — | — | — | T | |
| 171 | Glu | EGF-2 | 75.0 | 7.8 | 4.4 | 35.3 | 8 | — | — | — | C | |
| 271 | Thr | SP | 94.4 | 7.8 | 3.3 | 98.9 | 1 | — | — | — | T | |
| 303 | His | SP | 81.7 | 7.8 | 3.3 | 98.3 | 5 | 1 | — | 1 | T | |
| 309 | Ile | SP | 93.3 | 7.8 | 3.3 | 99.2 | 1 | — | — | — | T | |
| 360 | Phe | SP | 90.8 | 7.8 | 3.3 | 96.1 | 2 | 1 | 1 | 1 | T | |
| 387 | Lys | SP | 83.6 | 7.8 | 3.3 | 96.9 | 2 | 4 | — | 5 | T | |
| 421 | Gly | SP | 97.2 | 0.8 | 3.3 | 99.7 | 3 | — | — | — | T | |
| Super-critical | 144 | Phe | EGF-2 | 8.3 | 88.9 | 100.0 | 10.8 | 4 | — | — | — | E |
| 168 | Lys | EGF-2 | 40.8 | 96.7 | 99.4 | 8.3 | 4 | — | — | — | C | |
| 256 | Ile | SP | 6.4 | 100.0 | 91.1 | 2.5 | 8 | 1 | — | — | E | |
| 263 | Val | SP | 14.7 | 96.7 | 96.7 | 1.7 | 6 | 1 | — | — | E | |
| 316 | Ile | SP | 7.5 | 99.4 | 82.8 | 0.3 | 8 | 7 | 4 | — | C | |
| 356 | Trp | SP | 33.1 | 96.7 | 91.7 | 1.4 | 9 | 9 | 3 | 4 | C | |
| 410 | Asp | SP | 30.6 | 99.7 | 90.0 | 1.1 | 9 | 7 | 4 | — | T | |
| 424 | Phe | SP | 9.7 | 99.4 | 99.2 | 2.2 | 2 | 7 | — | — | E | |
| 425 | Leu | SP | 14.4 | 93.6 | 98.1 | 0.8 | 7 | 1 | 3 | 1 | E | |
| 444 | Tyr | SP | 6.4 | 99.4 | 88.6 | 0.6 | 9 | — | 1 | — | E | |
a
Numbering following the Human Genome Variation Society numbering (HGVS).
b
Percentile values, showing the percentage of other residues with centrality values smaller than the value indicated.
c
Conservation according to the ConsurfDB server. It varies from 1 (least conserved) to 9 (most conserved).
d
Number of reports in the EAHAD FIX mutation database, including all types of mutations. Visited in Feb. 2021.
e
Secondary structure elements: alpha helix (H); beta-strand (E); coil (C); turn (T).