Structural position:

  • Domain Type: Ig
  • Aligned Position: 69
  • Secondary Structure Element:
  • Secondary Structure Region:

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
R/I 7460 Ig-59 42 None 0.2283 None 0.863 N 0.37 0.261 0.612832922585 gnomAD-4.0.0 1.59202E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
K/N 8401 Ig-69 42 rs1172962931 0.3241 0.276 0.816 N 0.269 0.224 0.206339911435 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
K/N 8401 Ig-69 42 rs1172962931 0.3241 0.276 0.816 N 0.269 0.224 0.206339911435 gnomAD-4.0.0 1.59209E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43369E-05 0
K/T 8401 Ig-69 42 rs753121966 0.1496 0.094 0.216 N 0.355 0.218 0.305086939656 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
K/T 8401 Ig-69 42 rs753121966 0.1496 0.094 0.216 N 0.355 0.218 0.305086939656 gnomAD-4.0.0 1.5921E-06 None None None None N None 0 2.28749E-05 None 0 0 None 0 0 0 0 0
E/Q 16004 Ig-109 37 rs1305953554 0.1057 0.409 0.712 N 0.352 0.084 0.286465849087 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.49E-05 0
E/Q 16004 Ig-109 37 rs1305953554 0.1057 0.409 0.712 N 0.352 0.084 0.286465849087 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.95E-05 0 0
E/Q 16004 Ig-109 37 rs1305953554 0.1057 0.409 0.712 N 0.352 0.084 0.286465849087 gnomAD-4.0.0 1.31673E-05 None None None None N None 0 0 None 0 0 None 0 0 2.94525E-05 0 0
V/A 17289 Ig-112 39 None 0.1108 None 0.001 N 0.39 0.091 0.18274738541 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
P/S 18430 Ig-115 49 rs970752412 0.751 -1.13 0.993 N 0.48 0.315 0.321672782286 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
P/S 18430 Ig-115 49 rs970752412 0.751 -1.13 0.993 N 0.48 0.315 0.321672782286 gnomAD-4.0.0 1.37005E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80001E-06 0 0
P/H 19134 Ig-117 40 None 0.6351 None 1.0 N 0.667 0.393 0.551135290849 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
P/S 19134 Ig-117 40 rs1327049229 0.4555 -0.627 1.0 N 0.72 0.358 0.423119698836 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
P/S 19134 Ig-117 40 rs1327049229 0.4555 -0.627 1.0 N 0.72 0.358 0.423119698836 gnomAD-4.0.0 3.18434E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43295E-05 3.02554E-05
V/A 21217 Ig-123 41 rs1351844757 0.3233 -0.647 0.003 N 0.195 0.175 0.374613414588 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14969E-04 0 None 0 0 None 0 None 0 0 0
V/A 21217 Ig-123 41 rs1351844757 0.3233 -0.647 0.003 N 0.195 0.175 0.374613414588 gnomAD-3.1.2 1.32E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
V/A 21217 Ig-123 41 rs1351844757 0.3233 -0.647 0.003 N 0.195 0.175 0.374613414588 gnomAD-4.0.0 3.84796E-06 None None None None N None 5.08199E-05 0 None 0 0 None 0 0 0 0 0
V/I 21217 Ig-123 41 rs1214985099 0.0756 -0.235 0.001 N 0.147 0.127 0.378322506985 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
V/I 21217 Ig-123 41 rs1214985099 0.0756 -0.235 0.001 N 0.147 0.127 0.378322506985 gnomAD-4.0.0 1.5932E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43349E-05 0
A/E 22592 Ig-127 33 None 0.151 None 0.096 N 0.416 0.163 0.300110245524 gnomAD-4.0.0 2.73748E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59854E-06 0 0
A/S 22592 Ig-127 33 rs761567421 0.0851 -0.335 None N 0.179 0.058 0.0716867268079 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
A/S 22592 Ig-127 33 rs761567421 0.0851 -0.335 None N 0.179 0.058 0.0716867268079 gnomAD-4.0.0 1.36872E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99633E-07 1.15961E-05 0
A/V 22592 Ig-127 33 rs776461045 0.0783 0.044 None N 0.197 0.07 0.276898752692 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
A/V 22592 Ig-127 33 rs776461045 0.0783 0.044 None N 0.197 0.07 0.276898752692 gnomAD-4.0.0 1.36874E-06 None None None None N None 0 2.23624E-05 None 0 0 None 0 0 8.99635E-07 0 0
L/S 24470 Ig-132 40 rs1161493702 0.2673 -0.393 0.991 N 0.629 0.574 0.804186511895 gnomAD-2.1.1 4.03E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
L/S 24470 Ig-132 40 rs1161493702 0.2673 -0.393 0.991 N 0.629 0.574 0.804186511895 gnomAD-4.0.0 1.59188E-06 None None None None N None 5.66187E-05 0 None 0 0 None 0 0 0 0 0
S/L 25153 Ig-134 43 rs368058280 0.0694 -0.012 0.379 N 0.361 0.242 None gnomAD-2.1.1 9.28E-05 None None None None N None 0 5.66E-05 None 0 0 None 5.23013E-04 None 0 6.25E-05 0
S/L 25153 Ig-134 43 rs368058280 0.0694 -0.012 0.379 N 0.361 0.242 None gnomAD-3.1.2 6.58E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 8.83E-05 4.14594E-04 0
S/L 25153 Ig-134 43 rs368058280 0.0694 -0.012 0.379 N 0.361 0.242 None gnomAD-4.0.0 9.73036E-05 None None None None N None 3.99947E-05 3.33411E-05 None 0 0 None 0 0 9.15569E-05 4.61174E-04 3.20164E-05
R/G 25552 Ig-135 39 rs545954490 0.2397 -0.068 0.007 N 0.252 0.302 0.498896430806 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
R/Q 25552 Ig-135 39 rs779399871 0.1244 0.105 0.924 N 0.444 0.224 0.225215365344 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 9.82E-05 None 0 0 0
R/Q 25552 Ig-135 39 rs779399871 0.1244 0.105 0.924 N 0.444 0.224 0.225215365344 gnomAD-4.0.0 1.23246E-05 None None None None N None 2.99079E-05 0 None 0 0 None 0 0 4.49994E-06 1.16039E-04 3.31576E-05
E/Q 26235 Ig-137 43 rs1695984178 0.122 None 0.983 N 0.573 0.175 0.299086750705 gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
E/Q 26235 Ig-137 43 rs1695984178 0.122 None 0.983 N 0.573 0.175 0.299086750705 gnomAD-4.0.0 1.97254E-05 None None None None N None 7.23624E-05 0 None 0 0 None 0 0 0 0 0
T/I 26634 Ig-138 41 None 0.2165 None 0.939 N 0.294 0.421 0.29385284311 gnomAD-4.0.0 1.59148E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.0248E-05
E/Q 27317 Ig-140 40 rs1434330338 0.1134 -0.034 0.989 D 0.515 0.274 0.437634105008 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
E/Q 27317 Ig-140 40 rs1434330338 0.1134 -0.034 0.989 D 0.515 0.274 0.437634105008 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
E/Q 27317 Ig-140 40 rs1434330338 0.1134 -0.034 0.989 D 0.515 0.274 0.437634105008 gnomAD-4.0.0 3.09867E-06 None None None None N None 0 0 None 0 0 None 0 0 3.3905E-06 1.09789E-05 0
T/S 27717 Ig-141 42 rs757498214 0.0843 -0.045 0.002 N 0.126 0.084 0.0806252709748 gnomAD-2.1.1 3.18E-05 None None None None N None 1.14705E-04 0 None 0 0 None 0 None 0 0 0
T/S 27717 Ig-141 42 rs757498214 0.0843 -0.045 0.002 N 0.126 0.084 0.0806252709748 gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
T/S 27717 Ig-141 42 rs757498214 0.0843 -0.045 0.002 N 0.126 0.084 0.0806252709748 gnomAD-4.0.0 1.97161E-05 None None None None N None 7.23729E-05 0 None 0 0 None 0 0 0 0 0
E/K 28399 Ig-143 42 rs397517732 0.1299 0.551 0.067 N 0.341 0.235 0.333906830038 gnomAD-2.1.1 1.21E-05 None None None None I None 6.46E-05 0 None 0 0 None 0 None 0 1.78E-05 0
E/K 28399 Ig-143 42 rs397517732 0.1299 0.551 0.067 N 0.341 0.235 0.333906830038 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
E/K 28399 Ig-143 42 rs397517732 0.1299 0.551 0.067 N 0.341 0.235 0.333906830038 gnomAD-4.0.0 2.85058E-05 None None None None I None 2.66916E-05 0 None 0 0 None 0 0 3.64464E-05 0 1.60102E-05
R/C 28796 Ig-144 42 rs778069260 0.14 -0.203 0.992 N 0.611 0.514 0.681924071509 gnomAD-2.1.1 2.62E-05 None None None None N None 4.15E-05 5.83E-05 None 0 0 None 0 None 1.27421E-04 8.12E-06 0
R/C 28796 Ig-144 42 rs778069260 0.14 -0.203 0.992 N 0.611 0.514 0.681924071509 gnomAD-3.1.2 4.6E-05 None None None None N None 4.83E-05 0 0 0 1.92604E-04 None 3.77074E-04 0 0 0 0
R/C 28796 Ig-144 42 rs778069260 0.14 -0.203 0.992 N 0.611 0.514 0.681924071509 gnomAD-4.0.0 2.18909E-05 None None None None N None 4.02037E-05 3.38535E-05 None 0 2.23524E-05 None 2.06894E-04 0 1.36518E-05 0 0
R/G 28796 Ig-144 42 None 0.1768 None 0.264 N 0.573 0.262 0.475192790171 gnomAD-4.0.0 6.9123E-07 None None None None N None 0 0 None 0 0 None 0 0 9.0581E-07 0 0
R/H 28796 Ig-144 42 rs181167673 0.0872 -0.795 0.011 D 0.319 0.182 None gnomAD-2.1.1 1.27E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.79E-05 0
R/H 28796 Ig-144 42 rs181167673 0.0872 -0.795 0.011 D 0.319 0.182 None gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92827E-04 None 0 0 0 0 0
R/H 28796 Ig-144 42 rs181167673 0.0872 -0.795 0.011 D 0.319 0.182 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
R/H 28796 Ig-144 42 rs181167673 0.0872 -0.795 0.011 D 0.319 0.182 None gnomAD-4.0.0 7.50582E-06 None None None None N None 0 0 None 0 2.23584E-05 None 0 0 9.38599E-06 0 0
Q/K 29482 Ig-146 39 rs1489773324 0.0827 None 0.01 N 0.199 0.141 0.170165803431 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
Q/K 29482 Ig-146 39 rs1489773324 0.0827 None 0.01 N 0.199 0.141 0.170165803431 gnomAD-4.0.0 6.57237E-06 None None None None N None 0 0 None 0 0 None 0 0 1.4699E-05 0 0
G/S 29881 Ig-147 40 None 0.0735 None None N 0.163 0.049 0.0846915920261 gnomAD-4.0.0 1.59486E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85807E-06 0 0
S/N 30967 Ig-150 41 rs1249072254 0.1026 None None N 0.195 0.093 0.209622950755 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25001E-06 0 0
S/R 30967 Ig-150 41 None 0.3994 None 0.171 N 0.378 0.179 0.233150807113 gnomAD-4.0.0 3.4211E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.79656E-05 0
D/E 31657 Ig-152 37 rs781088841 0.112 -0.024 0.006 N 0.264 0.06 0.119812018005 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
D/E 31657 Ig-152 37 rs781088841 0.112 -0.024 0.006 N 0.264 0.06 0.119812018005 gnomAD-4.0.0 3.42103E-06 None None None None N None 0 0 None 0 0 None 0 0 8.9948E-07 4.63736E-05 0
R/K 32348 Ig-154 42 None 0.0837 None None N 0.222 0.076 0.18274738541 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

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.