STATISTICS OF HuVarBase

Summary
Effects of Mutation Missense Nonsense Insertion Deletion
Disease 652399 10174 8850 30625
Neutral 66191 2885 259 3480
Total 718590 13059 9109 34105


OTHER PARAMETERS

Disease causing variants
:
702,048
Neutral variants
:
72,815
Total number of variants
:
774,863

Number of proteins
:
18,318
Functions related to variants
:
4,055
Post Translational Modifications
:
44
Domains
:
2,105
Subcellular Localization
:
209


FREQUENCY MATRICES

Frequency matrices for the mutations are given below. In the matrices, the rows represent wild-type residues. The columns represent mutated residues. For example, to find the number of C to F mutants, locate the C-row, and then the value in the F-column.

Frequency matrix of disease causing mutations

A C D E F G H I K L M N P Q R S T V W Y
A 0 1 3029 1847 8 1795 0 4 0 5 0 2 1998 1 1 5960 21276 20240 0 1
C 1 0 0 0 1983 696 3 0 0 2 0 1 0 1 2001 1435 0 1 606 3152
D 915 2 0 3534 6 3993 3191 2 1 0 1 17610 2 1 0 1 1 1777 1 5537
E 1307 0 7600 0 0 3640 3 4 32143 9 1 1 0 5426 4 1 3 1936 0 0
F 1 1351 0 0 0 2 2 1026 1 6652 0 1 0 0 0 1669 1 1459 0 659
G 2300 3399 6619 11368 20 0 0 11 139 36 2 61 4 2 13628 7986 5 6092 1825 2
H 1 2 690 0 0 0 0 1 0 893 0 1675 902 1923 2716 1 1 1 0 5433
I 1 0 2 0 1470 0 1 0 273 1206 3038 1264 1 0 186 838 3793 5106 0 4
K 0 0 0 3608 1 1 0 554 0 5 976 7975 0 1444 3408 0 2899 0 1 0
L 2 1 0 0 8733 2 900 4149 5 0 3204 0 5882 1576 2547 1233 0 4619 295 2
M 1 0 0 0 0 0 0 7392 666 1202 0 6 1 0 520 0 2178 2878 0 0
N 0 0 2021 1 1 0 1133 1148 3082 0 1 0 1 0 1 4740 1145 1 0 951
P 2105 0 0 2 197 1 3346 11 10 19180 5 11 0 1917 1906 18644 4321 3 1 1
Q 0 0 0 2236 0 1 5330 0 3221 1792 1 0 1261 0 3292 1 0 0 0 1
R 0 24175 1 4 3 3503 23629 2709 4946 4489 1263 7 1771 25037 0 3471 1639 0 17130 5
S 1039 3772 0 0 13912 2337 1 2353 10 11760 0 4460 3083 1 3613 0 2261 1 300 3753
T 5533 2 2 1 4 0 0 6087 1614 2 9888 2009 1976 1 798 2678 0 2 0 0
V 5038 0 739 911 2190 2146 1 10629 5 4549 9449 2 1 3 2 2 1 0 2 0
W 1 1708 0 0 16 376 0 0 1 1008 3 0 0 0 1407 328 0 0 0 2
Y 0 4780 553 0 1031 1 2657 0 1 1 0 867 1 1 0 577 0 0 1 0


Frequency matrix of neutral mutations

A C D E F G H I K L M N P Q R S T V W Y
A 0 0 286 219 1 461 0 2 1 6 1 1 456 1 3 632 1953 1617 0 0
C 0 0 0 0 153 85 0 0 1 0 0 0 0 1 320 226 0 0 105 424
D 148 0 0 649 0 546 350 0 0 2 0 964 0 2 4 5 0 246 0 293
E 252 0 604 0 0 525 0 0 1406 4 0 4 0 514 2 1 2 163 0 0
F 1 119 1 0 0 1 1 84 0 629 0 2 1 0 0 257 0 115 0 97
G 399 214 614 522 0 0 0 0 0 1 0 1 0 1 1211 1013 0 494 96 0
H 0 0 96 1 0 0 0 0 0 90 0 116 132 353 554 2 0 0 0 418
I 1 0 0 0 218 0 0 0 28 222 444 160 1 0 33 102 907 1302 0 0
K 1 0 1 602 0 0 1 45 0 0 61 472 0 208 692 0 189 1 0 0
L 4 0 2 1 765 1 67 244 0 0 200 0 817 124 266 211 3 772 69 4
M 0 0 0 0 0 0 0 406 109 252 0 0 0 1 116 1 512 694 0 0
N 0 0 407 6 1 0 173 137 510 0 0 0 0 0 0 1085 187 0 0 94
P 484 1 0 0 0 0 241 1 0 1638 1 0 0 190 518 1193 489 0 0 1
Q 0 0 3 309 0 1 502 0 231 125 0 0 224 0 656 0 0 0 3 0
R 5 1369 2 6 0 800 1607 61 421 691 50 2 523 1863 0 441 144 0 1115 1
S 232 384 3 0 456 456 2 170 0 490 0 606 460 1 463 0 429 1 74 176
T 922 0 1 5 0 1 0 907 193 3 763 242 286 1 188 482 0 0 0 0
V 716 1 85 133 243 230 0 1351 0 821 1120 0 0 0 1 1 1 0 0 1
W 0 140 0 0 0 59 0 0 0 61 0 0 1 4 235 53 0 0 0 0
Y 0 673 85 0 125 1 353 1 0 5 0 62 0 1 1 106 1 2 0 0