MutHTP
  • MutHTP: Mutations in Human Transmembrane Proteins

Statistics

Summary of MutHTP

Effects of mutation Insertion Deletion Missense
Disease 2455 7183 178924
Neutral 39 272 17516


Total number of transmembrane proteins in UniProt database 5195
Total number of distinct disease mutations 183395
Total number of distinct proteins in disease mutations 4797
Number of disease mutations in the interface 4728
Total number of distinct neutral mutations 17827
Total number of distinct proteins in neutral mutations 3132
Number of neutral mutations in the interface 808


Distribution of mutations in different topological regions

Topological regions Disease Neutral Total
Inside 20389 2736 23215
Membrane 5463 578 6041
Outside 35826 3254 39080
Signal 902 146 1048


Distribution of mutations in different transmembrane (TM) segments

No. of TM
segments
No. of proteins Disease Neutral Total
1 793 39792 3894 43686
2 54 1745 213 1958
3 19 1216 102 1318
4 50 2243 369 2612
5 13 412 11 423
6 48 2404 209 2613
7 115 4405 337 4742
8 11 976 109 1085
9 19 1001 318 1319
10 4 222 15 237
11 15 603 196 799
12 39 2973 427 3400
13 6 476 40 516
14 8 409 36 445
15 1 46 1 47
16 3 69 13 82
17 3 432 47 479
19 1 2 0 2
20 1 729 42 771
24 4 2367 332 2699
35 1 53 3 56


Frequency matrix of disease causing mutations

The columns represent wild-type residues. The rows represent mutated residues.
For example, to find the number of E to K mutants, locate the E-row, and then the value in the K-column.

A C D E F G H I K L M N P Q R S T V W Y
A0179547424420201015211013305783531800
C00004622040000000059337500170844
D245108452939726200052590001043001227
E27201640007371089331100107110239600
F038400001352020510100053115300222
G5757201810426130054651240042152300114224360
H00144000000174036222444756201001531
I10104120007735577435910482261091131401
K00068700012300193170902626420624000
L0000266202481133109150168541069533401244780
M100000022942052880110133057368000
N00487000276318850000001118831400218
P48300147077822520911040547952831024010
Q000440001118067732900238062800000
R0602602282459045081376955281143658790809335041321
S2378220048515320568032690112081008770559082993
T137701120017963992285655363802636740000
V1422023626353162313326211942812100001000
W151600011500127800004471240001
Y012871880260075300002370001730000

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
A0 0 73 62 0 116 0 0 0 4 1 0 94 0 1 139 576 464 0 0
C0 0 0 0 31 20 0 0 1 0 0 0 0 1 82 59 0 0 20 77
D42 0 0 156 0 133 68 0 0 2 0 284 0 2 3 5 0 40 0 76
E 63 0 139 0 0 109 0 0 342 4 0 3 0 108 2 1 2 43 0 0
F 0 24 1 0 0 1 1 24 0 217 0 2 0 0 0 96 0 43 0 37
G 91 30 148 108 0 0 0 0 0 1 0 1 0 0 271 277 0 100 35 0
H 0 0 19 1 0 0 0 0 0 22 0 37 21 98 124 1 0 0 0 117
I 0 0 0 0 63 0 0 0 8 69 113 38 0 0 4 21 280 396 0 0
K 0 0 0 120 0 0 0 5 0 0 16 111 0 45 127 0 39 1 0 0
L 3 0 2 0 231 0 21 85 0 0 52 0 178 34 79 49 3 245 25 4
M 0 0 0 0 0 0 0 117 25 64 0 0 0 1 22 0 150 188 0 0
N 0 0 113 6 1 0 48 32 156 0 0 0 0 0 0 287 49 0 0 21
P 95 0 0 0 0 0 59 0 0 408 0 0 0 49 106 275 91 0 0 0
Q 0 0 2 75 0 1 117 0 42 25 0 0 32 0 172 0 0 0 3 0
R 4 360 2 6 0 153 475 13 113 119 18 1 76 586 0 119 38 0 297 0
S 69 77 1 0 121 122 2 36 0 131 0 182 120 0 114 0 124 1 15 47
T 259 0 1 5 0 1 0 217 39 2 291 57 57 0 48 121 0 0 0 0
V 240 0 24 34 46 63 0 543 0 230 408 0 0 0 1 1 0 0 0 1
W 0 44 0 0 0 18 0 0 0 22 0 0 1 3 64 9 0 0 0 0
Y 0 187 18 0 43 1 116 1 0 5 0 23 0 1 0 29 0 1 0 0