Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29995 | 90208;90209;90210 | chr2:178552917;178552916;178552915 | chr2:179417644;179417643;179417642 |
| N2AB | 28354 | 85285;85286;85287 | chr2:178552917;178552916;178552915 | chr2:179417644;179417643;179417642 |
| N2A | 27427 | 82504;82505;82506 | chr2:178552917;178552916;178552915 | chr2:179417644;179417643;179417642 |
| N2B | 20930 | 63013;63014;63015 | chr2:178552917;178552916;178552915 | chr2:179417644;179417643;179417642 |
| Novex-1 | 21055 | 63388;63389;63390 | chr2:178552917;178552916;178552915 | chr2:179417644;179417643;179417642 |
| Novex-2 | 21122 | 63589;63590;63591 | chr2:178552917;178552916;178552915 | chr2:179417644;179417643;179417642 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/R | rs754676727  |
None | 0.014 | N | 0.466 | 0.05 | 0.197625483188 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/R | rs754676727 |
None | 0.014 | N | 0.466 | 0.05 | 0.197625483188 | gnomAD-4.0.0 | 1.97267E-05 | None | None | None | None | N | None | 7.24218E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs754676727 |
-0.738 | None | N | 0.131 | 0.09 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| I/T | rs754676727 |
-0.738 | None | N | 0.131 | 0.09 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs754676727 |
-0.738 | None | N | 0.131 | 0.09 | None | gnomAD-4.0.0 | 2.60286E-05 | None | None | None | None | N | None | 8.01068E-05 | 0 | None | 0 | 0 | None | 3.12676E-05 | 0 | 2.7123E-05 | 1.09803E-05 | 1.60097E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0657 | likely_benign | 0.067 | benign | -0.849 | Destabilizing | 0.002 | N | 0.22 | neutral | None | None | None | None | N |
| I/C | 0.2608 | likely_benign | 0.2663 | benign | -0.783 | Destabilizing | 0.245 | N | 0.439 | neutral | None | None | None | None | N |
| I/D | 0.1802 | likely_benign | 0.1847 | benign | -0.002 | Destabilizing | None | N | 0.311 | neutral | None | None | None | None | N |
| I/E | 0.1443 | likely_benign | 0.1515 | benign | -0.048 | Destabilizing | 0.004 | N | 0.323 | neutral | None | None | None | None | N |
| I/F | 0.1022 | likely_benign | 0.0969 | benign | -0.59 | Destabilizing | 0.022 | N | 0.323 | neutral | None | None | None | None | N |
| I/G | 0.1492 | likely_benign | 0.1534 | benign | -1.071 | Destabilizing | 0.008 | N | 0.325 | neutral | None | None | None | None | N |
| I/H | 0.1411 | likely_benign | 0.1402 | benign | -0.173 | Destabilizing | 0.497 | N | 0.522 | neutral | None | None | None | None | N |
| I/K | 0.0992 | likely_benign | 0.0949 | benign | -0.466 | Destabilizing | 0.006 | N | 0.329 | neutral | N | 0.383663303 | None | None | N |
| I/L | 0.0667 | likely_benign | 0.0657 | benign | -0.361 | Destabilizing | None | N | 0.063 | neutral | N | 0.393208293 | None | None | N |
| I/M | 0.0595 | likely_benign | 0.0588 | benign | -0.492 | Destabilizing | None | N | 0.096 | neutral | N | 0.471053001 | None | None | N |
| I/N | 0.0634 | likely_benign | 0.0629 | benign | -0.321 | Destabilizing | 0.018 | N | 0.329 | neutral | None | None | None | None | N |
| I/P | 0.1 | likely_benign | 0.111 | benign | -0.491 | Destabilizing | 0.037 | N | 0.445 | neutral | None | None | None | None | N |
| I/Q | 0.106 | likely_benign | 0.1062 | benign | -0.479 | Destabilizing | 0.018 | N | 0.503 | neutral | None | None | None | None | N |
| I/R | 0.084 | likely_benign | 0.0829 | benign | 0.067 | Stabilizing | 0.014 | N | 0.466 | neutral | N | 0.378257483 | None | None | N |
| I/S | 0.0637 | likely_benign | 0.0617 | benign | -0.897 | Destabilizing | None | N | 0.188 | neutral | None | None | None | None | N |
| I/T | 0.0456 | likely_benign | 0.0446 | benign | -0.822 | Destabilizing | None | N | 0.131 | neutral | N | 0.303642295 | None | None | N |
| I/V | 0.0651 | likely_benign | 0.0654 | benign | -0.491 | Destabilizing | 0.001 | N | 0.119 | neutral | N | 0.409484467 | None | None | N |
| I/W | 0.4047 | ambiguous | 0.4066 | ambiguous | -0.589 | Destabilizing | 0.497 | N | 0.509 | neutral | None | None | None | None | N |
| I/Y | 0.2261 | likely_benign | 0.2255 | benign | -0.364 | Destabilizing | 0.085 | N | 0.491 | 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.