Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5983 | 18172;18173;18174 | chr2:178730586;178730585;178730584 | chr2:179595313;179595312;179595311 |
| N2AB | 5666 | 17221;17222;17223 | chr2:178730586;178730585;178730584 | chr2:179595313;179595312;179595311 |
| N2A | 4739 | 14440;14441;14442 | chr2:178730586;178730585;178730584 | chr2:179595313;179595312;179595311 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs775766481  |
0.226 | 0.003 | N | 0.267 | 0.104 | 0.0551355673512 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs775766481 |
0.226 | 0.003 | N | 0.267 | 0.104 | 0.0551355673512 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs775766481 |
0.226 | 0.003 | N | 0.267 | 0.104 | 0.0551355673512 | gnomAD-4.0.0 | 3.09885E-06 | None | None | None | None | N | None | 2.67094E-05 | 1.66744E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20277E-05 |
| G/D | None | None | 0.505 | N | 0.309 | 0.122 | 0.101711395817 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79912E-06 | 0 | 0 |
| G/S | rs1283178531 |
-0.026 | 0.001 | N | 0.153 | 0.063 | 0.0666544352282 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/S | rs1283178531 |
-0.026 | 0.001 | N | 0.153 | 0.063 | 0.0666544352282 | gnomAD-4.0.0 | 6.36657E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.73132E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0807 | likely_benign | 0.0795 | benign | -0.335 | Destabilizing | 0.003 | N | 0.267 | neutral | N | 0.390655485 | None | None | N |
| G/C | 0.2033 | likely_benign | 0.2115 | benign | -0.869 | Destabilizing | 0.965 | D | 0.519 | neutral | N | 0.488184819 | None | None | N |
| G/D | 0.1303 | likely_benign | 0.1434 | benign | -0.673 | Destabilizing | 0.505 | D | 0.309 | neutral | N | 0.435409127 | None | None | N |
| G/E | 0.125 | likely_benign | 0.1378 | benign | -0.845 | Destabilizing | 0.404 | N | 0.393 | neutral | None | None | None | None | N |
| G/F | 0.4136 | ambiguous | 0.4233 | ambiguous | -1.127 | Destabilizing | 0.906 | D | 0.519 | neutral | None | None | None | None | N |
| G/H | 0.2922 | likely_benign | 0.3129 | benign | -0.549 | Destabilizing | 0.973 | D | 0.456 | neutral | None | None | None | None | N |
| G/I | 0.156 | likely_benign | 0.1636 | benign | -0.499 | Destabilizing | 0.826 | D | 0.509 | neutral | None | None | None | None | N |
| G/K | 0.2549 | likely_benign | 0.2924 | benign | -0.757 | Destabilizing | 0.04 | N | 0.31 | neutral | None | None | None | None | N |
| G/L | 0.25 | likely_benign | 0.2464 | benign | -0.499 | Destabilizing | 0.575 | D | 0.459 | neutral | None | None | None | None | N |
| G/M | 0.279 | likely_benign | 0.2841 | benign | -0.422 | Destabilizing | 0.991 | D | 0.517 | neutral | None | None | None | None | N |
| G/N | 0.1698 | likely_benign | 0.1827 | benign | -0.412 | Destabilizing | 0.404 | N | 0.329 | neutral | None | None | None | None | N |
| G/P | 0.368 | ambiguous | 0.3227 | benign | -0.413 | Destabilizing | 0.826 | D | 0.423 | neutral | None | None | None | None | N |
| G/Q | 0.2274 | likely_benign | 0.2424 | benign | -0.744 | Destabilizing | 0.826 | D | 0.424 | neutral | None | None | None | None | N |
| G/R | 0.2134 | likely_benign | 0.241 | benign | -0.277 | Destabilizing | 0.642 | D | 0.383 | neutral | N | 0.387807181 | None | None | N |
| G/S | 0.0813 | likely_benign | 0.0825 | benign | -0.55 | Destabilizing | 0.001 | N | 0.153 | neutral | N | 0.357409703 | None | None | N |
| G/T | 0.1084 | likely_benign | 0.1161 | benign | -0.658 | Destabilizing | 0.404 | N | 0.379 | neutral | None | None | None | None | N |
| G/V | 0.1037 | likely_benign | 0.1092 | benign | -0.413 | Destabilizing | 0.782 | D | 0.455 | neutral | N | 0.399717686 | None | None | N |
| G/W | 0.3034 | likely_benign | 0.315 | benign | -1.248 | Destabilizing | 0.991 | D | 0.548 | neutral | None | None | None | None | N |
| G/Y | 0.2952 | likely_benign | 0.3009 | benign | -0.9 | Destabilizing | 0.906 | D | 0.513 | 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.