Structural position:

  • Domain Type: Ig
  • Aligned Position: 109
  • 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
Y/C 1126 Ig-4 45 None 0.788 None 1.0 N 0.677 0.582 0.403609169532 gnomAD-4.0.0 1.59059E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85669E-06 0 0
Y/D 1126 Ig-4 45 None 0.8966 None 1.0 N 0.693 0.624 0.505091552036 gnomAD-4.0.0 1.20033E-06 None None None None I None 0 0 None 0 0 None 0 0 1.31251E-06 0 0
K/E 1600 Ig-7 45 None 0.8083 None 0.999 N 0.553 0.39 0.242244723065 gnomAD-4.0.0 1.59064E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
D/E 2122 Ig-10 45 rs2092123649 0.1623 None 0.767 N 0.31 0.441 0.480801007081 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
D/E 2122 Ig-10 45 rs2092123649 0.1623 None 0.767 N 0.31 0.441 0.480801007081 gnomAD-4.0.0 6.57341E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46998E-05 0 0
D/H 2122 Ig-10 45 rs748790571 0.5507 0.639 1.0 D 0.689 0.74 0.527455595252 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 9.93E-05 0 None 0 None 0 0 0
D/H 2122 Ig-10 45 rs748790571 0.5507 0.639 1.0 D 0.689 0.74 0.527455595252 gnomAD-4.0.0 1.59079E-06 None None None None N None 0 0 None 4.7669E-05 0 None 0 0 0 0 0
D/G 2399 Ig-13 44 rs750522225 0.15 -0.392 0.998 N 0.501 0.539 0.461144880706 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
D/G 2399 Ig-13 44 rs750522225 0.15 -0.392 0.998 N 0.501 0.539 0.461144880706 gnomAD-4.0.0 3.18106E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86541E-05 0
D/N 2399 Ig-13 44 rs763147469 0.0958 0.256 0.999 N 0.557 0.296 0.435152311215 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
D/N 2399 Ig-13 44 rs763147469 0.0958 0.256 0.999 N 0.557 0.296 0.435152311215 gnomAD-4.0.0 1.59058E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85667E-06 0 0
D/E 9634 Ig-82 45 rs2076081318 0.1361 None 0.003 None 0.148 0.076 0.255777322467 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 9.43E-05 0 0 0 0
D/E 9634 Ig-82 45 rs2076081318 0.1361 None 0.003 None 0.148 0.076 0.255777322467 gnomAD-4.0.0 1.59109E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8577E-06 0 0
G/D 9743 Ig-83 46 None 0.8864 None 1.0 None 0.561 0.46 0.307016933798 gnomAD-4.0.0 3.18201E-06 None None None None I None 0 0 None 0 0 None 0 0 5.71562E-06 0 0
G/S 9743 Ig-83 46 rs368073588 0.314 -0.55 1.0 None 0.617 0.346 None gnomAD-2.1.1 2.41E-05 None None None None I None 0 0 None 0 0 None 0 None 0 5.31E-05 0
G/S 9743 Ig-83 46 rs368073588 0.314 -0.55 1.0 None 0.617 0.346 None 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
G/S 9743 Ig-83 46 rs368073588 0.314 -0.55 1.0 None 0.617 0.346 None gnomAD-4.0.0 1.92092E-05 None None None None I None 1.33476E-05 0 None 0 0 None 0 0 2.5427E-05 0 0
K/N 16303 Ig-110 42 None 0.1316 None None N 0.179 0.1 0.0297737177859 gnomAD-4.0.0 6.84727E-07 None None None None N None 2.99419E-05 0 None 0 0 None 0 0 0 0 0
K/R 16303 Ig-110 42 None 0.0939 None 0.007 N 0.309 0.118 0.202086224978 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
D/E 16999 Ig-111 45 None 0.124 None 0.767 N 0.333 0.186 0.0986583533028 gnomAD-4.0.0 6.84573E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99839E-07 0 0
D/G 16999 Ig-111 45 rs1576414391 0.149 None 0.998 N 0.547 0.459 0.17258766438 gnomAD-4.0.0 1.36915E-06 None None None None N None 0 0 None 0 5.05766E-05 None 0 0 0 0 0
D/V 16999 Ig-111 45 None 0.2457 None 0.999 D 0.655 0.529 0.535726849619 gnomAD-4.0.0 6.84573E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99842E-07 0 0
D/N 17716 Ig-113 40 rs1576363473 0.0967 None 0.638 N 0.515 0.205 0.219573609325 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07555E-04 0
D/N 17716 Ig-113 40 rs1576363473 0.0967 None 0.638 N 0.515 0.205 0.219573609325 gnomAD-4.0.0 6.58033E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.07555E-04 0
D/E 18012 Ig-114 45 rs765319965 0.0685 0.19 None N 0.141 0.114 0.0482279557977 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
D/E 18012 Ig-114 45 rs765319965 0.0685 0.19 None N 0.141 0.114 0.0482279557977 gnomAD-4.0.0 3.42315E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69959E-06 1.16001E-05 1.65804E-05
D/N 18012 Ig-114 45 None 0.0769 None None N 0.172 0.112 0.216624796971 gnomAD-4.0.0 1.59367E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86236E-06 0 0
T/A 18736 Ig-116 49 rs1033815030 0.0667 None 0.019 N 0.203 0.06 0.0762999501168 gnomAD-4.0.0 1.59284E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43423E-05 0
T/N 18736 Ig-116 49 rs1455791430 0.079 None 0.096 N 0.245 0.083 0.186928172975 gnomAD-4.0.0 1.09521E-05 None None None None N None 2.99168E-05 0 None 0 0 None 0 0 1.34966E-05 0 0
T/P 18736 Ig-116 49 None 0.0922 None 0.301 N 0.354 0.158 0.186928172975 gnomAD-4.0.0 1.59284E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86136E-06 0 0
A/V 19831 Ig-119 42 rs760784061 0.2483 -0.246 1.0 N 0.556 0.361 0.301455362545 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
A/V 19831 Ig-119 42 rs760784061 0.2483 -0.246 1.0 N 0.556 0.361 0.301455362545 gnomAD-4.0.0 4.77553E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.29923E-05 0
K/E 20521 Ig-121 43 rs2049901780 0.1538 None 0.885 N 0.471 0.159 0.206339911435 gnomAD-3.1.2 6.58E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
K/E 20521 Ig-121 43 rs2049901780 0.1538 None 0.885 N 0.471 0.159 0.206339911435 gnomAD-4.0.0 6.57652E-06 None None None None I None 2.41336E-05 0 None 0 0 None 0 0 0 0 0
K/N 20521 Ig-121 43 None 0.2544 None 0.1 N 0.321 0.076 0.115124310173 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
P/L 20816 Ig-122 48 None 0.1748 None 0.999 N 0.637 0.394 0.369867359543 gnomAD-4.0.0 6.84343E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.657E-05
P/R 20816 Ig-122 48 rs376951521 0.3405 0.167 0.999 N 0.647 0.376 None gnomAD-2.1.1 1.79E-05 None None None None N None 2.0668E-04 0 None 0 0 None 0 None 0 0 0
P/R 20816 Ig-122 48 rs376951521 0.3405 0.167 0.999 N 0.647 0.376 None gnomAD-3.1.2 4.6E-05 None None None None N None 1.68894E-04 0 0 0 0 None 0 0 0 0 0
P/R 20816 Ig-122 48 rs376951521 0.3405 0.167 0.999 N 0.647 0.376 None gnomAD-4.0.0 6.1985E-06 None None None None N None 1.33504E-04 0 None 0 0 None 0 0 0 0 0
S/R 21511 Ig-124 43 None 0.7444 None 0.976 N 0.358 0.266 0.262662153117 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
E/G 21908 Ig-125 43 None 0.1694 None 0.505 N 0.403 0.244 0.335164054921 gnomAD-4.0.0 1.59688E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43744E-05 0
E/K 21908 Ig-125 43 rs2154178693 0.1341 None 0.013 N 0.265 0.198 0.250039746154 gnomAD-4.0.0 4.79077E-06 None None None None N None 0 0 None 0 8.39772E-05 None 0 0 0 0 0
D/E 22992 Ig-128 43 rs755825278 0.1661 0.01 0.025 N 0.265 0.034 0.104622674875 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.89E-06 0
D/G 22992 Ig-128 43 rs2046668085 0.2446 None 0.892 N 0.379 0.324 0.16115917748 gnomAD-4.0.0 2.40064E-06 None None None None I None 6.33473E-05 0 None 0 0 None 0 0 1.3125E-06 0 0
D/Y 22992 Ig-128 43 None 0.3652 None 0.056 N 0.461 0.25 0.384086055536 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 0
Q/E 23678 Ig-130 42 rs778124569 0.1143 0.195 0.992 N 0.453 0.297 0.181679512989 gnomAD-2.1.1 5.01E-05 None None None None N None 0 0 None 0 0 None 3.60065E-04 None 0 2.35E-05 0
Q/E 23678 Ig-130 42 rs778124569 0.1143 0.195 0.992 N 0.453 0.297 0.181679512989 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 2.07039E-04 0
Q/E 23678 Ig-130 42 rs778124569 0.1143 0.195 0.992 N 0.453 0.297 0.181679512989 gnomAD-4.0.0 3.9674E-05 None None None None N None 0 1.66744E-05 None 0 0 None 0 0 2.28899E-05 3.62398E-04 4.80554E-05
Q/P 23678 Ig-130 42 None 0.1211 None 0.999 N 0.512 0.526 0.231231049324 gnomAD-4.0.0 1.5925E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85984E-06 0 0
T/S 24760 Ig-133 45 rs762222770 0.1765 None 0.822 N 0.363 0.17 0.0954503805726 gnomAD-4.0.0 4.77514E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57795E-06 0 0
T/A 25842 Ig-136 45 rs759436335 0.1646 -0.074 0.999 N 0.411 0.376 0.201204373187 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
T/A 25842 Ig-136 45 rs759436335 0.1646 -0.074 0.999 N 0.411 0.376 0.201204373187 gnomAD-4.0.0 1.59198E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43328E-05 0
T/I 25842 Ig-136 45 None 0.5795 None 1.0 N 0.565 0.394 0.31501682445 gnomAD-4.0.0 1.59198E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85976E-06 0 0
T/P 26924 Ig-139 45 None 0.3515 None 1.0 N 0.605 0.379 0.267299060538 gnomAD-4.0.0 1.36855E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79909E-06 0 0
T/I 28007 Ig-142 45 None 0.4072 None 0.994 N 0.513 0.455 0.341934017632 gnomAD-4.0.0 3.18518E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85982E-06 0 3.02645E-05
M/K 29089 Ig-145 45 None 0.2369 None 0.891 N 0.39 0.329 0.41441075005 gnomAD-4.0.0 6.87474E-07 None None None None N None 0 0 None 0 0 None 0 0 9.04632E-07 0 0
M/R 29089 Ig-145 45 None 0.278 None 0.966 N 0.373 0.368 0.465464902746 gnomAD-4.0.0 7.58752E-04 None None None None N None 5.11494E-04 0 None 2.68797E-04 1.26199E-04 None 0 1.74459E-04 9.12091E-04 2.56046E-04 7.34656E-04
M/T 29089 Ig-145 45 rs185467126 0.1701 0.812 0.891 N 0.359 0.271 None gnomAD-2.1.1 4.29E-05 None None None None N None 0 0 None 0 6.15195E-04 None 0 None 0 0 0
M/T 29089 Ig-145 45 rs185467126 0.1701 0.812 0.891 N 0.359 0.271 None gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 7.71605E-04 None 0 0 0 0 0
M/T 29089 Ig-145 45 rs185467126 0.1701 0.812 0.891 N 0.359 0.271 None 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 2E-03 0 None None None 0 None
M/T 29089 Ig-145 45 rs185467126 0.1701 0.812 0.891 N 0.359 0.271 None gnomAD-4.0.0 1.24467E-05 None None None None N None 0 0 None 0 4.01589E-04 None 0 0 8.52194E-07 1.10009E-05 0
E/K 33241 Ig-157 39 rs1318192796 0.1459 0.75 0.996 N 0.579 0.395 0.293147016451 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
E/K 33241 Ig-157 39 rs1318192796 0.1459 0.75 0.996 N 0.579 0.395 0.293147016451 gnomAD-4.0.0 3.18324E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86623E-05 0
E/Q 35941 Ig-169 45 rs777087450 0.121 -0.719 0.891 N 0.359 0.185 0.299427821978 gnomAD-2.1.1 1.61E-05 None None None -2.328(OBSL1) -1.419(OBSCN) N None 0 2.9E-05 None 0 0 None 0 None 0 2.66E-05 0
E/Q 35941 Ig-169 45 rs777087450 0.121 -0.719 0.891 N 0.359 0.185 0.299427821978 gnomAD-4.0.0 6.36361E-06 None None None -2.328(OBSL1) -1.419(OBSCN) N None 0 2.28634E-05 None 0 0 None 1.88253E-05 0 5.71507E-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.