Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2393 | 7402;7403;7404 | chr2:178773991;178773990;178773989 | chr2:179638718;179638717;179638716 |
| N2AB | 2393 | 7402;7403;7404 | chr2:178773991;178773990;178773989 | chr2:179638718;179638717;179638716 |
| N2A | 2393 | 7402;7403;7404 | chr2:178773991;178773990;178773989 | chr2:179638718;179638717;179638716 |
| N2B | 2347 | 7264;7265;7266 | chr2:178773991;178773990;178773989 | chr2:179638718;179638717;179638716 |
| Novex-1 | 2347 | 7264;7265;7266 | chr2:178773991;178773990;178773989 | chr2:179638718;179638717;179638716 |
| Novex-2 | 2347 | 7264;7265;7266 | chr2:178773991;178773990;178773989 | chr2:179638718;179638717;179638716 |
| Novex-3 | 2393 | 7402;7403;7404 | chr2:178773991;178773990;178773989 | chr2:179638718;179638717;179638716 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs754687695  |
0.514 | 0.029 | N | 0.284 | 0.163 | 0.238705975628 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 1.76E-05 | 0 |
| Q/R | rs754687695 |
0.514 | 0.029 | N | 0.284 | 0.163 | 0.238705975628 | gnomAD-4.0.0 | 1.16293E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.74392E-05 | 0 | 8.99306E-06 | 0 | 8.27924E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1564 | likely_benign | 0.1512 | benign | -0.145 | Destabilizing | 0.016 | N | 0.341 | neutral | None | None | None | None | N |
| Q/C | 0.2971 | likely_benign | 0.29 | benign | 0.208 | Stabilizing | 0.864 | D | 0.313 | neutral | None | None | None | None | N |
| Q/D | 0.2233 | likely_benign | 0.2226 | benign | -0.026 | Destabilizing | 0.016 | N | 0.269 | neutral | None | None | None | None | N |
| Q/E | 0.0735 | likely_benign | 0.0737 | benign | -0.062 | Destabilizing | None | N | 0.143 | neutral | N | 0.503463507 | None | None | N |
| Q/F | 0.363 | ambiguous | 0.358 | ambiguous | -0.383 | Destabilizing | 0.214 | N | 0.382 | neutral | None | None | None | None | N |
| Q/G | 0.2305 | likely_benign | 0.223 | benign | -0.317 | Destabilizing | 0.072 | N | 0.409 | neutral | None | None | None | None | N |
| Q/H | 0.1117 | likely_benign | 0.1095 | benign | -0.18 | Destabilizing | None | N | 0.193 | neutral | N | 0.5050425 | None | None | N |
| Q/I | 0.1503 | likely_benign | 0.1501 | benign | 0.221 | Stabilizing | 0.038 | N | 0.42 | neutral | None | None | None | None | N |
| Q/K | 0.0664 | likely_benign | 0.0669 | benign | 0.022 | Stabilizing | 0.012 | N | 0.349 | neutral | N | 0.460183465 | None | None | N |
| Q/L | 0.0913 | likely_benign | 0.0891 | benign | 0.221 | Stabilizing | None | N | 0.202 | neutral | N | 0.49384687 | None | None | N |
| Q/M | 0.1883 | likely_benign | 0.1877 | benign | 0.361 | Stabilizing | 0.214 | N | 0.266 | neutral | None | None | None | None | N |
| Q/N | 0.1599 | likely_benign | 0.1585 | benign | -0.161 | Destabilizing | 0.072 | N | 0.249 | neutral | None | None | None | None | N |
| Q/P | 0.5187 | ambiguous | 0.5289 | ambiguous | 0.126 | Stabilizing | 0.106 | N | 0.402 | neutral | D | 0.592472329 | None | None | N |
| Q/R | 0.0824 | likely_benign | 0.0813 | benign | 0.204 | Stabilizing | 0.029 | N | 0.284 | neutral | N | 0.499604191 | None | None | N |
| Q/S | 0.1755 | likely_benign | 0.1725 | benign | -0.167 | Destabilizing | 0.016 | N | 0.271 | neutral | None | None | None | None | N |
| Q/T | 0.1318 | likely_benign | 0.1316 | benign | -0.063 | Destabilizing | 0.072 | N | 0.379 | neutral | None | None | None | None | N |
| Q/V | 0.1152 | likely_benign | 0.115 | benign | 0.126 | Stabilizing | None | N | 0.225 | neutral | None | None | None | None | N |
| Q/W | 0.3243 | likely_benign | 0.3214 | benign | -0.41 | Destabilizing | 0.864 | D | 0.316 | neutral | None | None | None | None | N |
| Q/Y | 0.2465 | likely_benign | 0.2426 | benign | -0.148 | Destabilizing | 0.072 | N | 0.415 | 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.