Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29979 | 90160;90161;90162 | chr2:178552965;178552964;178552963 | chr2:179417692;179417691;179417690 |
| N2AB | 28338 | 85237;85238;85239 | chr2:178552965;178552964;178552963 | chr2:179417692;179417691;179417690 |
| N2A | 27411 | 82456;82457;82458 | chr2:178552965;178552964;178552963 | chr2:179417692;179417691;179417690 |
| N2B | 20914 | 62965;62966;62967 | chr2:178552965;178552964;178552963 | chr2:179417692;179417691;179417690 |
| Novex-1 | 21039 | 63340;63341;63342 | chr2:178552965;178552964;178552963 | chr2:179417692;179417691;179417690 |
| Novex-2 | 21106 | 63541;63542;63543 | chr2:178552965;178552964;178552963 | chr2:179417692;179417691;179417690 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs779619858  |
-0.015 | 0.801 | N | 0.284 | 0.409 | 0.41337360676 | gnomAD-2.1.1 | 9.68E-05 | None | None | None | None | N | None | 0 | 5.21921E-04 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 1.78E-05 | 4.99667E-04 |
| T/I | rs779619858 |
-0.015 | 0.801 | N | 0.284 | 0.409 | 0.41337360676 | gnomAD-3.1.2 | 1.70864E-04 | None | None | None | None | N | None | 0 | 1.50622E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 9.56023E-04 |
| T/I | rs779619858 |
-0.015 | 0.801 | N | 0.284 | 0.409 | 0.41337360676 | gnomAD-4.0.0 | 4.64989E-05 | None | None | None | None | N | None | 0 | 9.0024E-04 | None | 3.37792E-05 | 0 | None | 0 | 0 | 1.10186E-05 | 0 | 1.12079E-04 |
| T/R | rs779619858 |
0.176 | 0.966 | N | 0.281 | 0.392 | 0.561027722634 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/R | rs779619858 |
0.176 | 0.966 | N | 0.281 | 0.392 | 0.561027722634 | 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 |
| T/R | rs779619858 |
0.176 | 0.966 | N | 0.281 | 0.392 | 0.561027722634 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4699E-05 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0971 | likely_benign | 0.0832 | benign | -0.455 | Destabilizing | 0.002 | N | 0.111 | neutral | N | 0.396613958 | None | None | N |
| T/C | 0.6294 | likely_pathogenic | 0.5094 | ambiguous | -0.354 | Destabilizing | 0.974 | D | 0.266 | neutral | None | None | None | None | N |
| T/D | 0.7729 | likely_pathogenic | 0.6825 | pathogenic | 0.309 | Stabilizing | 0.915 | D | 0.273 | neutral | None | None | None | None | N |
| T/E | 0.7238 | likely_pathogenic | 0.6244 | pathogenic | 0.259 | Stabilizing | 0.842 | D | 0.238 | neutral | None | None | None | None | N |
| T/F | 0.484 | ambiguous | 0.3718 | ambiguous | -0.812 | Destabilizing | 0.974 | D | 0.362 | neutral | None | None | None | None | N |
| T/G | 0.3 | likely_benign | 0.2492 | benign | -0.619 | Destabilizing | 0.525 | D | 0.288 | neutral | None | None | None | None | N |
| T/H | 0.5081 | ambiguous | 0.402 | ambiguous | -0.774 | Destabilizing | 0.998 | D | 0.357 | neutral | None | None | None | None | N |
| T/I | 0.3263 | likely_benign | 0.2508 | benign | -0.135 | Destabilizing | 0.801 | D | 0.284 | neutral | N | 0.515267925 | None | None | N |
| T/K | 0.5916 | likely_pathogenic | 0.4591 | ambiguous | -0.401 | Destabilizing | 0.801 | D | 0.234 | neutral | N | 0.486329098 | None | None | N |
| T/L | 0.1875 | likely_benign | 0.1457 | benign | -0.135 | Destabilizing | 0.688 | D | 0.283 | neutral | None | None | None | None | N |
| T/M | 0.1314 | likely_benign | 0.1104 | benign | -0.126 | Destabilizing | 0.991 | D | 0.265 | neutral | None | None | None | None | N |
| T/N | 0.2037 | likely_benign | 0.1571 | benign | -0.209 | Destabilizing | 0.915 | D | 0.269 | neutral | None | None | None | None | N |
| T/P | 0.2902 | likely_benign | 0.2214 | benign | -0.211 | Destabilizing | 0.891 | D | 0.261 | neutral | N | 0.503800138 | None | None | N |
| T/Q | 0.4536 | ambiguous | 0.3627 | ambiguous | -0.379 | Destabilizing | 0.974 | D | 0.286 | neutral | None | None | None | None | N |
| T/R | 0.5292 | ambiguous | 0.4044 | ambiguous | -0.119 | Destabilizing | 0.966 | D | 0.281 | neutral | N | 0.478499049 | None | None | N |
| T/S | 0.1311 | likely_benign | 0.1085 | benign | -0.467 | Destabilizing | 0.454 | N | 0.259 | neutral | N | 0.422085618 | None | None | N |
| T/V | 0.247 | likely_benign | 0.1916 | benign | -0.211 | Destabilizing | 0.525 | D | 0.317 | neutral | None | None | None | None | N |
| T/W | 0.8633 | likely_pathogenic | 0.7822 | pathogenic | -0.812 | Destabilizing | 0.998 | D | 0.408 | neutral | None | None | None | None | N |
| T/Y | 0.545 | ambiguous | 0.4397 | ambiguous | -0.539 | Destabilizing | 0.991 | D | 0.346 | neutral | None | None | None | None | N |
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.