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Total number of protein in "GO:0060048" GO term:  42

Identifier UniProt Gene UniProt Accession UniProt Name Chromosome GO term Database Cancer Driver Number of missense mutations Missense mutation per residues Number of disordered residues Number of mutations in disordered regions Disordered missense mutations per residues Number of OMIM mutation
ATP1A2 ATP1A2 P50993 Sodium/potassium-transporting ATPase subunit alpha-2 chr1 GO:0060048 Not Cancer Driver No 230 0.225 161 34 0.211 8
ATP1B1 ATP1B1 P05026 Sodium/potassium-transporting ATPase subunit beta-1 chr1 GO:0060048 Not Cancer Driver No 38 0.125 55 9 0.164 0
CASQ2 CASQ2 O14958 Calsequestrin-2 chr1 GO:0060048 Not Cancer Driver No 74 0.185 75 16 0.213 4
CSRP3 CSRP3 P50461 Cysteine and glycine-rich protein 3 chr11 GO:0060048 Not Cancer Driver No 25 0.129 31 1 0.032 2
CXCR4_ENST00000241393 CXCR4 P61073 C-X-C chemokine receptor type 4 chr2 GO:0060048 Census, Compendium Yes 62 0.176 5 1 0.2 0
DMD DMD P11532 Dystrophin chrX GO:0060048 Not Cancer Driver No 895 0.243 1399 329 0.235 14
GAA_ENST00000390015 GAA P10253 Lysosomal alpha-glucosidase chr17 GO:0060048 Not Cancer Driver No 101 0.106 147 18 0.122 131
GRK2 GRK2 P25098 Beta-adrenergic receptor kinase 1 chr11 GO:0060048 Not Cancer Driver No 77 0.112 87 8 0.092 0
KCNE5 KCNE5 Q9UJ90 Potassium voltage-gated channel subfamily E regulatory beta subunit 5 chrX GO:0060048 Not Cancer Driver No 35 0.246 68 26 0.382 0
KCNH2 KCNH2 Q12809 Potassium voltage-gated channel subfamily H member 2 chr7 GO:0060048 Not Cancer Driver No 189 0.163 466 50 0.107 117
KCNQ1 KCNQ1 P51787 Potassium voltage-gated channel subfamily KQT member 1 chr11 GO:0060048 Not Cancer Driver No 78 0.115 219 20 0.091 132
MAP2K3 MAP2K3 P46734 Dual specificity mitogen-activated protein kinase kinase 3 chr17 GO:0060048 Not Cancer Driver No 104 0.3 75 27 0.36 0
MAP2K6 MAP2K6 P52564 Dual specificity mitogen-activated protein kinase kinase 6 chr17 GO:0060048 Not Cancer Driver No 48 0.144 55 11 0.2 0
MTOR MTOR P42345 Serine/threonine-protein kinase mTOR chr1 GO:0060048 Census, Compendium Yes 379 0.149 296 37 0.125 18
MYBPC3 MYBPC3 Q14896 Myosin-binding protein C, cardiac-type chr11 GO:0060048 Not Cancer Driver No 178 0.14 434 62 0.143 64
MYH6 MYH6 P13533 Myosin-6 chr14 GO:0060048 Not Cancer Driver No 392 0.202 1112 238 0.214 7
MYH7 MYH7 P12883 Myosin-7 chr14 GO:0060048 Not Cancer Driver No 464 0.24 1107 276 0.249 200
MYL2 MYL2 P10916 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform chr12 GO:0060048 Not Cancer Driver No 44 0.265 34 8 0.235 6
MYL3 MYL3 P08590 Myosin light chain 3 chr3 GO:0060048 Not Cancer Driver No 21 0.108 99 9 0.091 5
MYL4_ENST00000572316 MYL4 P12829 Myosin light chain 4 chr17 GO:0060048 Not Cancer Driver No 29 0.147 104 11 0.106 1
MYLK2 MYLK2 Q9H1R3 Myosin light chain kinase 2, skeletal/cardiac muscle chr20 GO:0060048 Not Cancer Driver No 118 0.198 277 64 0.231 2
NKX2-5 NKX2-5 P52952 Homeobox protein Nkx-2.5 chr5 GO:0060048 Not Cancer Driver No 48 0.148 181 22 0.122 55
PIK3CA PIK3CA P42336 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform chr3 GO:0060048 Census, Compendium Yes 1669 1.563 38 11 0.289 30
PPP1R13L_ENST00000360957 PPP1R13L Q8WUF5 RelA-associated inhibitor chr19 GO:0060048 Not Cancer Driver No 117 0.141 657 90 0.137 0
RYR2 RYR2 Q92736 Ryanodine receptor 2 chr1 GO:0060048 Not Cancer Driver No 1703 0.343 782 281 0.359 51
SCN1B_ENST00000262631 SCN1B Q07699 Sodium channel subunit beta-1 chr19 GO:0060048 Not Cancer Driver No 35 0.161 4 1 0.25 5
SCN2B SCN2B O60939 Sodium channel subunit beta-2 chr11 GO:0060048 Not Cancer Driver No 46 0.214 52 7 0.135 2
SCN3B_ENST00000299333 SCN3B Q9NY72 Sodium channel subunit beta-3 chr11 GO:0060048 Not Cancer Driver No 63 0.293 16 5 0.312 3
SCN4B SCN4B Q8IWT1 Sodium channel subunit beta-4 chr11 GO:0060048 Not Cancer Driver No 23 0.101 46 4 0.087 3
SCN5A_ENST00000333535 SCN5A Q14524 Sodium channel protein type 5 subunit alpha chr3 GO:0060048 Not Cancer Driver No 491 0.244 550 144 0.262 190
SLC8A1_ENST00000332839 SLC8A1 P32418 Sodium/calcium exchanger 1 chr2 GO:0060048 Not Cancer Driver No 305 0.313 158 48 0.304 0
SMAD5_ENST00000509297 SMAD5 Q99717 Mothers against decapentaplegic homolog 5 chr5 GO:0060048 Not Cancer Driver No 44 0.095 172 11 0.064 0
TAZ_ENST00000612460 TAFAZZIN Q16635 Tafazzin chrX GO:0060048 Not Cancer Driver No 33 0.126 12 0 0.0 10
TCAP TCAP O15273 Telethonin chr17 GO:0060048 Not Cancer Driver No 16 0.096 94 10 0.106 3
TNNC1 TNNC1 P63316 Troponin C, slow skeletal and cardiac muscles chr3 GO:0060048 Not Cancer Driver No 19 0.118 67 6 0.09 6
TNNI1_ENST00000336092 TNNI1 P19237 Troponin I, slow skeletal muscle chr1 GO:0060048 Not Cancer Driver No 34 0.182 72 8 0.111 0
TNNI2_ENST00000381911 TNNI2 P48788 Troponin I, fast skeletal muscle chr11 GO:0060048 Not Cancer Driver No 45 0.247 171 44 0.257 1
TNNI3 TNNI3 P19429 Troponin I, cardiac muscle chr19 GO:0060048 Not Cancer Driver No 42 0.2 108 19 0.176 21
TNNT2 TNNT2 P45379 Troponin T, cardiac muscle chr1 GO:0060048 Not Cancer Driver No 59 0.198 272 53 0.195 21
TPM1_ENST00000403994 TPM1 P09493 Tropomyosin alpha-1 chain chr15 GO:0060048 Not Cancer Driver No 33 0.116 234 29 0.124 8
TTN_ENST00000615779 TTN Q8WZ42 Titin chr2 GO:0060048 Not Cancer Driver No 7917 0.23 12926 2861 0.221 10
VEGFB VEGFB P49765 Vascular endothelial growth factor B chr11 GO:0060048 Not Cancer Driver No 25 0.121 125 22 0.176 0