Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6428 | 19507;19508;19509 | chr2:178728644;178728643;178728642 | chr2:179593371;179593370;179593369 |
| N2AB | 6111 | 18556;18557;18558 | chr2:178728644;178728643;178728642 | chr2:179593371;179593370;179593369 |
| N2A | 5184 | 15775;15776;15777 | chr2:178728644;178728643;178728642 | chr2:179593371;179593370;179593369 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs727505137  |
None | 1.0 | N | 0.424 | 0.448 | 0.370240404367 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| S/C | rs727505137 |
None | 1.0 | N | 0.424 | 0.448 | 0.370240404367 | gnomAD-4.0.0 | 6.40932E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85861E-05 | None | 0 | 0 | 0 | 2.68039E-05 | 2.84835E-05 |
| S/I | rs748391553 |
0.169 | 0.4 | N | 0.314 | 0.266 | 0.479893544335 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/I | rs748391553 |
0.169 | 0.4 | N | 0.314 | 0.266 | 0.479893544335 | gnomAD-4.0.0 | 1.59246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 0 | 0 |
| S/T | None | None | 0.99 | N | 0.423 | 0.233 | 0.141422826196 | gnomAD-4.0.0 | 1.59246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2862 | likely_benign | 0.2541 | benign | -0.582 | Destabilizing | 0.982 | D | 0.433 | neutral | None | None | None | None | N |
| S/C | 0.4006 | ambiguous | 0.3076 | benign | -0.467 | Destabilizing | 1.0 | D | 0.424 | neutral | N | 0.501516318 | None | None | N |
| S/D | 0.8661 | likely_pathogenic | 0.7672 | pathogenic | 0.431 | Stabilizing | 0.999 | D | 0.42 | neutral | None | None | None | None | N |
| S/E | 0.9593 | likely_pathogenic | 0.9379 | pathogenic | 0.381 | Stabilizing | 0.998 | D | 0.413 | neutral | None | None | None | None | N |
| S/F | 0.8398 | likely_pathogenic | 0.7673 | pathogenic | -1.175 | Destabilizing | 0.998 | D | 0.564 | neutral | None | None | None | None | N |
| S/G | 0.1507 | likely_benign | 0.1159 | benign | -0.713 | Destabilizing | 0.997 | D | 0.363 | neutral | N | 0.408513314 | None | None | N |
| S/H | 0.8409 | likely_pathogenic | 0.7854 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.415 | neutral | None | None | None | None | N |
| S/I | 0.8694 | likely_pathogenic | 0.7905 | pathogenic | -0.357 | Destabilizing | 0.4 | N | 0.314 | neutral | N | 0.467029328 | None | None | N |
| S/K | 0.9864 | likely_pathogenic | 0.975 | pathogenic | -0.358 | Destabilizing | 0.999 | D | 0.405 | neutral | None | None | None | None | N |
| S/L | 0.4916 | ambiguous | 0.3911 | ambiguous | -0.357 | Destabilizing | 0.931 | D | 0.423 | neutral | None | None | None | None | N |
| S/M | 0.745 | likely_pathogenic | 0.6679 | pathogenic | -0.374 | Destabilizing | 0.998 | D | 0.405 | neutral | None | None | None | None | N |
| S/N | 0.4972 | ambiguous | 0.3707 | ambiguous | -0.276 | Destabilizing | 0.999 | D | 0.459 | neutral | N | 0.489169041 | None | None | N |
| S/P | 0.9292 | likely_pathogenic | 0.8927 | pathogenic | -0.404 | Destabilizing | 0.999 | D | 0.399 | neutral | None | None | None | None | N |
| S/Q | 0.9364 | likely_pathogenic | 0.9185 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.367 | neutral | None | None | None | None | N |
| S/R | 0.9735 | likely_pathogenic | 0.9515 | pathogenic | -0.217 | Destabilizing | 0.999 | D | 0.396 | neutral | N | 0.459432005 | None | None | N |
| S/T | 0.2422 | likely_benign | 0.1934 | benign | -0.356 | Destabilizing | 0.99 | D | 0.423 | neutral | N | 0.503157059 | None | None | N |
| S/V | 0.7936 | likely_pathogenic | 0.7102 | pathogenic | -0.404 | Destabilizing | 0.931 | D | 0.429 | neutral | None | None | None | None | N |
| S/W | 0.8774 | likely_pathogenic | 0.8281 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| S/Y | 0.7812 | likely_pathogenic | 0.6952 | pathogenic | -0.905 | Destabilizing | 0.999 | D | 0.573 | 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.