Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5760 | 17503;17504;17505 | chr2:178731488;178731487;178731486 | chr2:179596215;179596214;179596213 |
| N2AB | 5443 | 16552;16553;16554 | chr2:178731488;178731487;178731486 | chr2:179596215;179596214;179596213 |
| N2A | 4516 | 13771;13772;13773 | chr2:178731488;178731487;178731486 | chr2:179596215;179596214;179596213 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | None | None | 0.004 | D | 0.163 | 0.135 | 0.231231049324 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8586E-06 | 0 | 0 |
| T/M | rs770310501  |
0.047 | 0.328 | D | 0.415 | 0.269 | 0.579270068135 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 1.24008E-04 | 2.83E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/M | rs770310501 |
0.047 | 0.328 | D | 0.415 | 0.269 | 0.579270068135 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs770310501 |
0.047 | 0.328 | D | 0.415 | 0.269 | 0.579270068135 | gnomAD-4.0.0 | 1.11561E-05 | None | None | None | None | I | None | 8.01089E-05 | 5.004E-05 | None | 0 | 0 | None | 0 | 3.29056E-04 | 0 | 1.09803E-05 | 9.60922E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0808 | likely_benign | 0.0834 | benign | -0.742 | Destabilizing | 0.004 | N | 0.163 | neutral | D | 0.525189422 | None | None | I |
| T/C | 0.4481 | ambiguous | 0.4507 | ambiguous | -0.518 | Destabilizing | 0.977 | D | 0.487 | neutral | None | None | None | None | I |
| T/D | 0.3242 | likely_benign | 0.3254 | benign | 0.161 | Stabilizing | 0.85 | D | 0.541 | neutral | None | None | None | None | I |
| T/E | 0.2475 | likely_benign | 0.2522 | benign | 0.193 | Stabilizing | 0.617 | D | 0.517 | neutral | None | None | None | None | I |
| T/F | 0.2061 | likely_benign | 0.2225 | benign | -0.897 | Destabilizing | 0.85 | D | 0.605 | neutral | None | None | None | None | I |
| T/G | 0.2737 | likely_benign | 0.2802 | benign | -1.005 | Destabilizing | 0.447 | N | 0.541 | neutral | None | None | None | None | I |
| T/H | 0.2067 | likely_benign | 0.209 | benign | -1.155 | Destabilizing | 0.977 | D | 0.567 | neutral | None | None | None | None | I |
| T/I | 0.1546 | likely_benign | 0.1765 | benign | -0.134 | Destabilizing | 0.447 | N | 0.486 | neutral | None | None | None | None | I |
| T/K | 0.1855 | likely_benign | 0.1958 | benign | -0.447 | Destabilizing | 0.608 | D | 0.519 | neutral | N | 0.4991949 | None | None | I |
| T/L | 0.1094 | likely_benign | 0.1215 | benign | -0.134 | Destabilizing | 0.103 | N | 0.448 | neutral | None | None | None | None | I |
| T/M | 0.0857 | likely_benign | 0.0926 | benign | -0.127 | Destabilizing | 0.328 | N | 0.415 | neutral | D | 0.537273285 | None | None | I |
| T/N | 0.1208 | likely_benign | 0.1243 | benign | -0.553 | Destabilizing | 0.739 | D | 0.459 | neutral | None | None | None | None | I |
| T/P | 0.4649 | ambiguous | 0.4866 | ambiguous | -0.304 | Destabilizing | 0.896 | D | 0.549 | neutral | D | 0.537273285 | None | None | I |
| T/Q | 0.1986 | likely_benign | 0.2042 | benign | -0.573 | Destabilizing | 0.85 | D | 0.549 | neutral | None | None | None | None | I |
| T/R | 0.1514 | likely_benign | 0.1645 | benign | -0.316 | Destabilizing | 0.916 | D | 0.553 | neutral | D | 0.525189422 | None | None | I |
| T/S | 0.0942 | likely_benign | 0.0968 | benign | -0.859 | Destabilizing | 0.016 | N | 0.143 | neutral | N | 0.443840262 | None | None | I |
| T/V | 0.1307 | likely_benign | 0.1427 | benign | -0.304 | Destabilizing | 0.021 | N | 0.241 | neutral | None | None | None | None | I |
| T/W | 0.5165 | ambiguous | 0.5539 | ambiguous | -0.891 | Destabilizing | 0.992 | D | 0.619 | neutral | None | None | None | None | I |
| T/Y | 0.239 | likely_benign | 0.251 | benign | -0.599 | Destabilizing | 0.92 | D | 0.599 | 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.