Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2397 | 7414;7415;7416 | chr2:178773979;178773978;178773977 | chr2:179638706;179638705;179638704 |
| N2AB | 2397 | 7414;7415;7416 | chr2:178773979;178773978;178773977 | chr2:179638706;179638705;179638704 |
| N2A | 2397 | 7414;7415;7416 | chr2:178773979;178773978;178773977 | chr2:179638706;179638705;179638704 |
| N2B | 2351 | 7276;7277;7278 | chr2:178773979;178773978;178773977 | chr2:179638706;179638705;179638704 |
| Novex-1 | 2351 | 7276;7277;7278 | chr2:178773979;178773978;178773977 | chr2:179638706;179638705;179638704 |
| Novex-2 | 2351 | 7276;7277;7278 | chr2:178773979;178773978;178773977 | chr2:179638706;179638705;179638704 |
| Novex-3 | 2397 | 7414;7415;7416 | chr2:178773979;178773978;178773977 | chr2:179638706;179638705;179638704 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 0.117 | D | 0.359 | 0.209 | 0.481321013822 | 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 |
| P/R | None | None | 0.317 | N | 0.373 | 0.195 | 0.32082282376 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0651 | likely_benign | 0.0646 | benign | -0.592 | Destabilizing | 0.001 | N | 0.127 | neutral | N | 0.48091238 | None | None | N |
| P/C | 0.337 | likely_benign | 0.3358 | benign | -0.637 | Destabilizing | 0.824 | D | 0.387 | neutral | None | None | None | None | N |
| P/D | 0.3348 | likely_benign | 0.3558 | ambiguous | -0.468 | Destabilizing | 0.081 | N | 0.294 | neutral | None | None | None | None | N |
| P/E | 0.2243 | likely_benign | 0.238 | benign | -0.565 | Destabilizing | 0.081 | N | 0.297 | neutral | None | None | None | None | N |
| P/F | 0.3908 | ambiguous | 0.4046 | ambiguous | -0.728 | Destabilizing | 0.38 | N | 0.4 | neutral | None | None | None | None | N |
| P/G | 0.2163 | likely_benign | 0.221 | benign | -0.751 | Destabilizing | 0.035 | N | 0.283 | neutral | None | None | None | None | N |
| P/H | 0.1346 | likely_benign | 0.1386 | benign | -0.317 | Destabilizing | 0.001 | N | 0.239 | neutral | D | 0.58262553 | None | None | N |
| P/I | 0.2635 | likely_benign | 0.2723 | benign | -0.313 | Destabilizing | 0.38 | N | 0.393 | neutral | None | None | None | None | N |
| P/K | 0.2425 | likely_benign | 0.2482 | benign | -0.601 | Destabilizing | 0.081 | N | 0.279 | neutral | None | None | None | None | N |
| P/L | 0.1165 | likely_benign | 0.1208 | benign | -0.313 | Destabilizing | 0.117 | N | 0.359 | neutral | D | 0.540725268 | None | None | N |
| P/M | 0.2626 | likely_benign | 0.2692 | benign | -0.393 | Destabilizing | 0.935 | D | 0.366 | neutral | None | None | None | None | N |
| P/N | 0.2176 | likely_benign | 0.2216 | benign | -0.345 | Destabilizing | 0.081 | N | 0.357 | neutral | None | None | None | None | N |
| P/Q | 0.1229 | likely_benign | 0.1271 | benign | -0.569 | Destabilizing | 0.38 | N | 0.362 | neutral | None | None | None | None | N |
| P/R | 0.1586 | likely_benign | 0.1663 | benign | -0.075 | Destabilizing | 0.317 | N | 0.373 | neutral | N | 0.51121623 | None | None | N |
| P/S | 0.0983 | likely_benign | 0.1019 | benign | -0.693 | Destabilizing | None | N | 0.149 | neutral | N | 0.485246446 | None | None | N |
| P/T | 0.0947 | likely_benign | 0.0992 | benign | -0.687 | Destabilizing | 0.062 | N | 0.294 | neutral | N | 0.50967633 | None | None | N |
| P/V | 0.1798 | likely_benign | 0.1846 | benign | -0.371 | Destabilizing | 0.149 | N | 0.325 | neutral | None | None | None | None | N |
| P/W | 0.5273 | ambiguous | 0.5414 | ambiguous | -0.833 | Destabilizing | 0.935 | D | 0.484 | neutral | None | None | None | None | N |
| P/Y | 0.2976 | likely_benign | 0.3037 | benign | -0.539 | Destabilizing | 0.235 | N | 0.406 | 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.