Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2424 | 7495;7496;7497 | chr2:178773898;178773897;178773896 | chr2:179638625;179638624;179638623 |
| N2AB | 2424 | 7495;7496;7497 | chr2:178773898;178773897;178773896 | chr2:179638625;179638624;179638623 |
| N2A | 2424 | 7495;7496;7497 | chr2:178773898;178773897;178773896 | chr2:179638625;179638624;179638623 |
| N2B | 2378 | 7357;7358;7359 | chr2:178773898;178773897;178773896 | chr2:179638625;179638624;179638623 |
| Novex-1 | 2378 | 7357;7358;7359 | chr2:178773898;178773897;178773896 | chr2:179638625;179638624;179638623 |
| Novex-2 | 2378 | 7357;7358;7359 | chr2:178773898;178773897;178773896 | chr2:179638625;179638624;179638623 |
| Novex-3 | 2424 | 7495;7496;7497 | chr2:178773898;178773897;178773896 | chr2:179638625;179638624;179638623 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.014 | N | 0.359 | 0.144 | 0.0297737177859 | gnomAD-4.0.0 | 1.36816E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79862E-06 | 0 | 0 |
| N/S | rs927165447  |
-0.477 | None | N | 0.117 | 0.052 | 0.0297737177859 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| N/S | rs927165447 |
-0.477 | None | N | 0.117 | 0.052 | 0.0297737177859 | gnomAD-4.0.0 | 3.18114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1247 | likely_benign | 0.1217 | benign | -0.734 | Destabilizing | None | N | 0.239 | neutral | None | None | None | None | N |
| N/C | 0.1331 | likely_benign | 0.1336 | benign | 0.163 | Stabilizing | 0.245 | N | 0.507 | neutral | None | None | None | None | N |
| N/D | 0.1089 | likely_benign | 0.1088 | benign | 0.244 | Stabilizing | 0.014 | N | 0.359 | neutral | N | 0.399141763 | None | None | N |
| N/E | 0.1944 | likely_benign | 0.1937 | benign | 0.219 | Stabilizing | 0.009 | N | 0.306 | neutral | None | None | None | None | N |
| N/F | 0.2345 | likely_benign | 0.235 | benign | -1.122 | Destabilizing | 0.044 | N | 0.556 | neutral | None | None | None | None | N |
| N/G | 0.2071 | likely_benign | 0.2036 | benign | -0.9 | Destabilizing | 0.004 | N | 0.259 | neutral | None | None | None | None | N |
| N/H | 0.0712 | likely_benign | 0.0718 | benign | -0.904 | Destabilizing | None | N | 0.3 | neutral | N | 0.431318902 | None | None | N |
| N/I | 0.0935 | likely_benign | 0.0922 | benign | -0.376 | Destabilizing | None | N | 0.348 | neutral | N | 0.394417099 | None | None | N |
| N/K | 0.159 | likely_benign | 0.1553 | benign | 0.162 | Stabilizing | None | N | 0.119 | neutral | N | 0.393480483 | None | None | N |
| N/L | 0.1142 | likely_benign | 0.114 | benign | -0.376 | Destabilizing | 0.001 | N | 0.334 | neutral | None | None | None | None | N |
| N/M | 0.1696 | likely_benign | 0.1698 | benign | 0.156 | Stabilizing | 0.138 | N | 0.515 | neutral | None | None | None | None | N |
| N/P | 0.4401 | ambiguous | 0.4406 | ambiguous | -0.471 | Destabilizing | 0.085 | N | 0.515 | neutral | None | None | None | None | N |
| N/Q | 0.16 | likely_benign | 0.1571 | benign | -0.409 | Destabilizing | 0.044 | N | 0.373 | neutral | None | None | None | None | N |
| N/R | 0.1662 | likely_benign | 0.1658 | benign | 0.231 | Stabilizing | 0.009 | N | 0.361 | neutral | None | None | None | None | N |
| N/S | 0.0704 | likely_benign | 0.0701 | benign | -0.249 | Destabilizing | None | N | 0.117 | neutral | N | 0.417729981 | None | None | N |
| N/T | 0.0754 | likely_benign | 0.0763 | benign | -0.112 | Destabilizing | None | N | 0.144 | neutral | N | 0.338938235 | None | None | N |
| N/V | 0.1044 | likely_benign | 0.1036 | benign | -0.471 | Destabilizing | 0.001 | N | 0.332 | neutral | None | None | None | None | N |
| N/W | 0.497 | ambiguous | 0.4931 | ambiguous | -0.995 | Destabilizing | 0.788 | D | 0.514 | neutral | None | None | None | None | N |
| N/Y | 0.0958 | likely_benign | 0.0964 | benign | -0.76 | Destabilizing | 0.017 | N | 0.546 | neutral | N | 0.499667311 | 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.