Structural position:

  • Domain Type: Ig
  • Aligned Position: 178
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand G

SAVs

SAV Position (IC) Domain Position (Domain) RS
AlphaMissense (IC)
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
V/A 1794 Ig-8 92 rs774766261 0.9246 -1.707 0.999 D 0.784 0.714 0.802620329787 gnomAD-2.1.1 1.62E-05 None None None None N None 0 0 None 9.93E-05 0 None 0 None 0 1.77E-05 1.64258E-04
V/A 1794 Ig-8 92 rs774766261 0.9246 -1.707 0.999 D 0.784 0.714 0.802620329787 gnomAD-4.0.0 1.12418E-05 None None None None N None 0 0 None 0 0 None 0 2.41196E-04 1.42837E-05 0 3.02499E-05
A/D 2706 Ig-16 86 None 0.5244 None 0.993 D 0.66 None 0.771029458599 gnomAD-4.0.0 1.59984E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85696E-06 0 0
V/G 3142 Ig-21 85 rs1165830952 0.9802 -2.75 1.0 D 0.743 0.655 0.56380075071 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.82E-06 0
V/G 3142 Ig-21 85 rs1165830952 0.9802 -2.75 1.0 D 0.743 0.655 0.56380075071 gnomAD-4.0.0 1.59051E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85654E-06 0 0
V/A 3749 Ig-26 90 None 0.4626 None None None None 0.332 None gnomAD-4.0.0 1.37748E-06 None None None None I None 3.00625E-05 0 None 0 0 None 0 0 0 0 1.66683E-05
I/L 3909 Ig-27 90 None 0.2315 None 0.003 N 0.387 0.134 None gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-06 6.07533E-05 0
I/T 3909 Ig-27 90 rs1452766565 0.7336 -1.955 0.081 D 0.523 0.295 None gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
I/T 3909 Ig-27 90 rs1452766565 0.7336 -1.955 0.081 D 0.523 0.295 None gnomAD-4.0.0 8.21015E-06 None None None None N None 0 0 None 0 0 None 0 0 1.07932E-05 0 0
I/V 3909 Ig-27 90 None 0.1332 None None N 0.285 0.076 None gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
V/A 4977 Ig-32 90 None 0.5388 None 0.334 D 0.661 0.676 0.764842827521 gnomAD-4.0.0 7.03072E-07 None None None None I None 0 0 None 0 0 None 0 0 9.12019E-07 0 0
V/D 6944 Ig-53 91 rs1278982841 0.9756 -1.75 0.997 D 0.811 0.883 0.938277259092 gnomAD-2.1.1 5.17E-06 None None None None N None 0 3.45E-05 None 0 0 None 0 None 0 0 0
V/D 6944 Ig-53 91 rs1278982841 0.9756 -1.75 0.997 D 0.811 0.883 0.938277259092 gnomAD-4.0.0 3.47205E-06 None None None None N None 0 5.22057E-05 None 0 0 None 0 0 0 0 0
V/F 6944 Ig-53 91 rs2079162110 0.5577 None 0.982 D 0.783 0.614 0.915955184925 gnomAD-4.0.0 1.73095E-06 None None None None N None 0 0 None 0 0 None 0 0 3.10064E-06 0 0
V/A 7885 Ig-63 91 rs2078098721 0.7283 None 0.973 D 0.691 0.768 0.83395928633 gnomAD-4.0.0 2.06364E-06 None None None None N None 0 0 None 7.78938E-05 0 None 0 0 0 0 1.66689E-05
V/L 7885 Ig-63 91 rs1438134317 0.4996 -0.709 0.535 D 0.705 0.528 0.729328342088 gnomAD-2.1.1 4.16E-06 None None None None N None 0 0 None 0 0 None 3.43E-05 None 0 0 0
V/L 7885 Ig-63 91 rs1438134317 0.4996 -0.709 0.535 D 0.705 0.528 0.729328342088 gnomAD-4.0.0 3.22379E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.92184E-05 0
V/I 8826 Ig-73 91 rs200116046 0.0654 -0.82 0.001 N 0.471 0.258 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
V/I 8826 Ig-73 91 rs200116046 0.0654 -0.82 0.001 N 0.471 0.258 None gnomAD-4.0.0 2.74088E-06 None None None None N None 0 0 None 0 0 None 0 0 2.70241E-06 1.16085E-05 0
V/I 9986 Ig-84 87 rs897070145 0.1704 None 0.997 None 0.553 0.419 0.597181378002 gnomAD-4.0.0 1.37799E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80776E-06 0 0
E/A 10074 Ig-85 86 rs1441211227 0.3563 0.044 0.999 None 0.597 0.36 0.227260227426 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 0 1.65453E-04
E/A 10074 Ig-85 86 rs1441211227 0.3563 0.044 0.999 None 0.597 0.36 0.227260227426 gnomAD-4.0.0 3.18376E-06 None None None None I None 0 0 None 0 0 None 0 0 5.71651E-06 0 0
E/D 10074 Ig-85 86 None 0.552 None 0.999 None 0.493 0.225 0.144782658237 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
E/K 10074 Ig-85 86 rs794729402 0.3947 0.749 1.0 None 0.637 0.319 0.201204373187 gnomAD-2.1.1 7.14E-06 None None None None I None 0 2.83E-05 None 0 0 None 0 None 0 0 1.40252E-04
E/K 10074 Ig-85 86 rs794729402 0.3947 0.749 1.0 None 0.637 0.319 0.201204373187 gnomAD-3.1.2 1.31E-05 None None None None I None 0 6.55E-05 0 0 0 None 0 0 1.47E-05 0 0
E/K 10074 Ig-85 86 rs794729402 0.3947 0.749 1.0 None 0.637 0.319 0.201204373187 gnomAD-4.0.0 1.36355E-05 None None None None I None 1.33497E-05 3.33422E-05 None 0 0 None 0 1.64366E-04 1.52569E-05 0 0
L/V 13958 Ig-89 83 None 0.5222 None 0.997 D 0.549 0.451 0.690638299042 gnomAD-4.0.0 6.87166E-07 None None None None N None 0 0 None 0 0 None 0 0 9.01837E-07 0 0
T/A 14138 Ig-91 85 None 0.108 None 0.044 N 0.256 0.099 0.104622674875 gnomAD-4.0.0 6.89099E-07 None None None None I None 0 0 None 0 0 None 0 0 9.01369E-07 0 0
T/P 14138 Ig-91 85 rs376500376 0.4134 -0.063 0.31 N 0.394 0.234 None gnomAD-2.1.1 1.48E-05 None None None None I None 1.67462E-04 0 None 0 0 None 0 None 0 0 0
T/P 14138 Ig-91 85 rs376500376 0.4134 -0.063 0.31 N 0.394 0.234 None gnomAD-3.1.2 3.94E-05 None None None None I None 1.44788E-04 0 0 0 0 None 0 0 0 0 0
T/P 14138 Ig-91 85 rs376500376 0.4134 -0.063 0.31 N 0.394 0.234 None gnomAD-4.0.0 5.61355E-06 None None None None I None 1.21737E-04 0 None 0 0 None 0 0 0 0 0
V/I 14226 Ig-92 85 rs1232583484 0.2344 -0.464 0.997 D 0.467 0.359 0.736372478493 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
V/I 14226 Ig-92 85 rs1232583484 0.2344 -0.464 0.997 D 0.467 0.359 0.736372478493 gnomAD-4.0.0 1.59314E-06 None None None None N None 0 2.28833E-05 None 0 0 None 0 0 0 0 0
A/S 14316 Ig-93 86 None 0.1108 None 0.103 D 0.186 0.204 0.223146558224 gnomAD-4.0.0 3.42206E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49819E-06 0 0
A/T 14316 Ig-93 86 rs763386894 0.1665 -0.617 0.811 D 0.25 0.246 0.313818047136 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
A/T 14316 Ig-93 86 rs763386894 0.1665 -0.617 0.811 D 0.25 0.246 0.313818047136 gnomAD-4.0.0 2.05323E-06 None None None None N None 0 0 None 0 2.52551E-05 None 0 0 1.79928E-06 0 0
I/V 14491 Ig-95 84 rs765783194 0.139 None 0.132 N 0.126 0.064 0.530309751445 gnomAD-3.1.2 1.97E-05 None None None None N None 0 1.96567E-04 0 0 0 None 0 0 0 0 0
I/V 14491 Ig-95 84 rs765783194 0.139 None 0.132 N 0.126 0.064 0.530309751445 gnomAD-4.0.0 1.97189E-05 None None None None N None 0 1.96567E-04 None 0 0 None 0 0 0 0 0
L/R 14582 Ig-96 86 rs2059886153 0.1817 None 0.996 N 0.67 0.506 0.816327850401 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/R 14582 Ig-96 86 rs2059886153 0.1817 None 0.996 N 0.67 0.506 0.816327850401 gnomAD-4.0.0 6.57367E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47072E-05 0 0
M/I 15023 Ig-101 82 rs373308815 0.3197 -0.769 0.454 N 0.522 0.101 0.308904156042 gnomAD-2.1.1 8.08E-06 None None None None N None 0 0 None 0 1.12841E-04 None 0 None 0 0 0
M/I 15023 Ig-101 82 rs373308815 0.3197 -0.769 0.454 N 0.522 0.101 0.308904156042 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 3.88954E-04 None 0 0 0 0 0
M/I 15023 Ig-101 82 rs373308815 0.3197 -0.769 0.454 N 0.522 0.101 0.308904156042 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
M/I 15023 Ig-101 82 rs373308815 0.3197 -0.769 0.454 N 0.522 0.101 0.308904156042 gnomAD-4.0.0 5.13495E-06 None None None None N None 0 0 None 0 9.76324E-05 None 0 0 0 0 0
M/T 15023 Ig-101 82 rs2058342072 0.3533 None 0.891 N 0.473 0.328 0.654164466603 gnomAD-4.0.0 1.59515E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.03269E-05
M/V 15023 Ig-101 82 rs370996945 0.1268 None 0.454 N 0.372 0.117 0.303781844768 gnomAD-4.0.0 1.59509E-06 None None None None N None 0 0 None 0 2.78987E-05 None 0 0 0 0 0
H/R 15116 Ig-102 86 rs1413491989 0.0941 0.054 0.213 N 0.208 0.207 0.258283824007 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 3.28E-05 None 0 0 0
H/R 15116 Ig-102 86 rs1413491989 0.0941 0.054 0.213 N 0.208 0.207 0.258283824007 gnomAD-4.0.0 3.42425E-06 None None None None I None 0 0 None 0 0 None 0 0 9.00019E-07 4.64145E-05 0
H/Y 15116 Ig-102 86 None 0.1105 None 0.523 N 0.257 0.111 0.288727942641 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
V/D 15204 Ig-103 85 rs1337863742 0.9968 -2.346 0.998 D 0.711 0.826 0.876902895405 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
V/D 15204 Ig-103 85 rs1337863742 0.9968 -2.346 0.998 D 0.711 0.826 0.876902895405 gnomAD-4.0.0 1.59547E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86261E-06 0 0
V/A 15297 Ig-104 90 rs775158152 0.7523 -1.758 0.999 D 0.762 0.73 0.715428137178 gnomAD-2.1.1 1.79E-05 None None None None N None 0 1.13514E-04 None 0 0 None 0 None 0 7.85E-06 0
V/A 15297 Ig-104 90 rs775158152 0.7523 -1.758 0.999 D 0.762 0.73 0.715428137178 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
V/A 15297 Ig-104 90 rs775158152 0.7523 -1.758 0.999 D 0.762 0.73 0.715428137178 gnomAD-4.0.0 1.67464E-05 None None None None N None 0 6.67824E-05 None 0 0 None 0 0 1.86594E-05 0 1.60313E-05
I/T 15386 Ig-105 85 None 0.9357 None 0.999 N 0.602 0.454 0.619546946635 gnomAD-4.0.0 1.5998E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.03841E-05
I/V 15386 Ig-105 85 rs879033914 0.2076 None 0.985 N 0.288 0.217 0.365317461125 gnomAD-4.0.0 2.05735E-06 None None None None N None 0 0 None 0 0 None 0 0 2.70267E-06 0 0
A/S 15565 Ig-107 86 rs145520397 0.1404 -0.243 1.0 N 0.503 0.219 None gnomAD-2.1.1 6.06953E-04 None None None None I None 6.09453E-03 3.71089E-04 None 0 0 None 0 None 0 5.5E-05 2.83126E-04
A/S 15565 Ig-107 86 rs145520397 0.1404 -0.243 1.0 N 0.503 0.219 None gnomAD-3.1.2 1.81698E-03 None None None None I None 6.03748E-03 1.44585E-03 0 0 0 None 0 0 2.95E-05 0 9.57854E-04
A/S 15565 Ig-107 86 rs145520397 0.1404 -0.243 1.0 N 0.503 0.219 None 1000 genomes 1.19808E-03 None None None None I None 3E-03 2.9E-03 None None 0 0 None None None 0 None
A/S 15565 Ig-107 86 rs145520397 0.1404 -0.243 1.0 N 0.503 0.219 None gnomAD-4.0.0 3.525E-04 None None None None I None 6.10457E-03 7.36722E-04 None 0 0 None 1.56402E-05 1.65563E-04 2.96968E-05 0 4.81186E-04
V/A 33587 Ig-158 92 None 0.8847 None 1.0 D 0.765 0.872 0.789012101798 gnomAD-4.0.0 4.80155E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25028E-06 0 0
V/M 33587 Ig-158 92 rs1401200720 0.8957 -1.551 1.0 D 0.879 0.773 0.767170172808 gnomAD-2.1.1 5.49E-06 None None None None N None 0 4.6E-05 None 0 0 None 0 None 0 0 0
V/M 33587 Ig-158 92 rs1401200720 0.8957 -1.551 1.0 D 0.879 0.773 0.767170172808 gnomAD-4.0.0 1.8355E-06 None None None None N None 0 3.42185E-05 None 0 0 None 0 0 0 0 0
V/L 34226 Ig-160 90 None 0.6432 None 0.997 D 0.759 0.761 0.697533386117 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-06 0 0
V/L 34350 Ig-161 93 None 0.7806 None 0.09 N 0.701 0.325 0.37097340754 gnomAD-4.0.0 4.77319E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57305E-06 0 0
I/L 35218 Ig-164 90 None 0.2508 None None D 0.249 0.138 0.151104730317 gnomAD-4.0.0 1.59088E-06 None None None None N None 0 0 None 4.76554E-05 0 None 0 0 0 0 0
I/T 35218 Ig-164 90 rs143499441 0.5996 -2.21 None N 0.336 0.357 None gnomAD-2.1.1 2.16939E-04 None None None None N None 0 0 None 0 3.00434E-03 None 0 None 0 0 0
I/T 35218 Ig-164 90 rs143499441 0.5996 -2.21 None N 0.336 0.357 None gnomAD-3.1.2 7.23E-05 None None None None N None 0 0 0 0 2.12028E-03 None 0 0 0 0 0
I/T 35218 Ig-164 90 rs143499441 0.5996 -2.21 None N 0.336 0.357 None 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 2E-03 0 None None None 0 None
I/T 35218 Ig-164 90 rs143499441 0.5996 -2.21 None N 0.336 0.357 None gnomAD-4.0.0 1.75975E-04 None None None None N None 0 0 None 0 6.30627E-03 None 0 0 0 0 1.60031E-05

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.