Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29453 | 88582;88583;88584 | chr2:178555102;178555101;178555100 | chr2:179419829;179419828;179419827 |
| N2AB | 27812 | 83659;83660;83661 | chr2:178555102;178555101;178555100 | chr2:179419829;179419828;179419827 |
| N2A | 26885 | 80878;80879;80880 | chr2:178555102;178555101;178555100 | chr2:179419829;179419828;179419827 |
| N2B | 20388 | 61387;61388;61389 | chr2:178555102;178555101;178555100 | chr2:179419829;179419828;179419827 |
| Novex-1 | 20513 | 61762;61763;61764 | chr2:178555102;178555101;178555100 | chr2:179419829;179419828;179419827 |
| Novex-2 | 20580 | 61963;61964;61965 | chr2:178555102;178555101;178555100 | chr2:179419829;179419828;179419827 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs773524612  |
-0.176 | 0.324 | N | 0.508 | 0.515 | 0.531679877283 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/G | rs773524612 |
-0.176 | 0.324 | N | 0.508 | 0.515 | 0.531679877283 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs773524612 |
-0.176 | 0.324 | N | 0.508 | 0.515 | 0.531679877283 | gnomAD-4.0.0 | 7.68665E-06 | None | None | None | None | I | None | 8.45566E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34063E-05 | 0 |
| R/K | None | None | None | N | 0.213 | 0.14 | 0.312306559268 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15974E-05 | 1.65678E-05 |
| R/S | None | None | 0.193 | N | 0.458 | 0.305 | 0.310458034454 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4096 | ambiguous | 0.3568 | ambiguous | -0.024 | Destabilizing | 0.116 | N | 0.471 | neutral | None | None | None | None | I |
| R/C | 0.2232 | likely_benign | 0.1933 | benign | -0.239 | Destabilizing | 0.981 | D | 0.457 | neutral | None | None | None | None | I |
| R/D | 0.7622 | likely_pathogenic | 0.7265 | pathogenic | -0.239 | Destabilizing | 0.388 | N | 0.487 | neutral | None | None | None | None | I |
| R/E | 0.4308 | ambiguous | 0.3919 | ambiguous | -0.195 | Destabilizing | 0.116 | N | 0.391 | neutral | None | None | None | None | I |
| R/F | 0.5853 | likely_pathogenic | 0.5035 | ambiguous | -0.317 | Destabilizing | 0.818 | D | 0.465 | neutral | None | None | None | None | I |
| R/G | 0.3574 | ambiguous | 0.3001 | benign | -0.179 | Destabilizing | 0.324 | N | 0.508 | neutral | N | 0.518231217 | None | None | I |
| R/H | 0.1254 | likely_benign | 0.1112 | benign | -0.625 | Destabilizing | 0.818 | D | 0.46 | neutral | None | None | None | None | I |
| R/I | 0.2848 | likely_benign | 0.2593 | benign | 0.343 | Stabilizing | 0.457 | N | 0.47 | neutral | N | 0.484251206 | None | None | I |
| R/K | 0.0983 | likely_benign | 0.0905 | benign | -0.167 | Destabilizing | None | N | 0.213 | neutral | N | 0.496154595 | None | None | I |
| R/L | 0.2394 | likely_benign | 0.2122 | benign | 0.343 | Stabilizing | 0.116 | N | 0.48 | neutral | None | None | None | None | I |
| R/M | 0.2735 | likely_benign | 0.2359 | benign | -0.037 | Destabilizing | 0.054 | N | 0.349 | neutral | None | None | None | None | I |
| R/N | 0.6451 | likely_pathogenic | 0.5807 | pathogenic | -0.011 | Destabilizing | 0.388 | N | 0.441 | neutral | None | None | None | None | I |
| R/P | 0.4693 | ambiguous | 0.4359 | ambiguous | 0.24 | Stabilizing | 0.818 | D | 0.491 | neutral | None | None | None | None | I |
| R/Q | 0.1214 | likely_benign | 0.111 | benign | -0.095 | Destabilizing | 0.241 | N | 0.435 | neutral | None | None | None | None | I |
| R/S | 0.552 | ambiguous | 0.4897 | ambiguous | -0.275 | Destabilizing | 0.193 | N | 0.458 | neutral | N | 0.487930828 | None | None | I |
| R/T | 0.264 | likely_benign | 0.2318 | benign | -0.117 | Destabilizing | 0.324 | N | 0.489 | neutral | D | 0.531672677 | None | None | I |
| R/V | 0.3449 | ambiguous | 0.3115 | benign | 0.24 | Stabilizing | 0.241 | N | 0.492 | neutral | None | None | None | None | I |
| R/W | 0.2186 | likely_benign | 0.1729 | benign | -0.437 | Destabilizing | 0.981 | D | 0.467 | neutral | None | None | None | None | I |
| R/Y | 0.454 | ambiguous | 0.3775 | ambiguous | -0.032 | Destabilizing | 0.932 | D | 0.482 | neutral | None | None | None | None | I |
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.