Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4725 | 14398;14399;14400 | chr2:178738280;178738279;178738278 | chr2:179603007;179603006;179603005 |
| N2AB | 4408 | 13447;13448;13449 | chr2:178738280;178738279;178738278 | chr2:179603007;179603006;179603005 |
| N2A | 3481 | 10666;10667;10668 | chr2:178738280;178738279;178738278 | chr2:179603007;179603006;179603005 |
| N2B | 4362 | 13309;13310;13311 | chr2:178738280;178738279;178738278 | chr2:179603007;179603006;179603005 |
| Novex-1 | 4487 | 13684;13685;13686 | chr2:178738280;178738279;178738278 | chr2:179603007;179603006;179603005 |
| Novex-2 | 4554 | 13885;13886;13887 | chr2:178738280;178738279;178738278 | chr2:179603007;179603006;179603005 |
| 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/N | rs1179360335  |
0.023 | 0.014 | N | 0.365 | 0.118 | 0.0611884634855 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs1179360335 |
0.023 | 0.014 | N | 0.365 | 0.118 | 0.0611884634855 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | I | None | 0 | 2.23714E-05 | None | 0 | 0 | None | 0 | 0 | 8.99538E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0703 | likely_benign | 0.075 | benign | -0.181 | Destabilizing | 0.004 | N | 0.279 | neutral | None | None | None | None | I |
| S/C | 0.1228 | likely_benign | 0.1302 | benign | -0.517 | Destabilizing | 0.196 | N | 0.461 | neutral | N | 0.49177538 | None | None | I |
| S/D | 0.1896 | likely_benign | 0.2318 | benign | -0.017 | Destabilizing | None | N | 0.116 | neutral | None | None | None | None | I |
| S/E | 0.272 | likely_benign | 0.3093 | benign | -0.088 | Destabilizing | None | N | 0.079 | neutral | None | None | None | None | I |
| S/F | 0.1938 | likely_benign | 0.2222 | benign | -0.825 | Destabilizing | 0.138 | N | 0.547 | neutral | None | None | None | None | I |
| S/G | 0.0686 | likely_benign | 0.0711 | benign | -0.274 | Destabilizing | None | N | 0.117 | neutral | N | 0.454569941 | None | None | I |
| S/H | 0.2324 | likely_benign | 0.2682 | benign | -0.513 | Destabilizing | 0.497 | N | 0.461 | neutral | None | None | None | None | I |
| S/I | 0.1235 | likely_benign | 0.121 | benign | -0.065 | Destabilizing | None | N | 0.283 | neutral | N | 0.491258547 | None | None | I |
| S/K | 0.3502 | ambiguous | 0.4114 | ambiguous | -0.46 | Destabilizing | 0.018 | N | 0.351 | neutral | None | None | None | None | I |
| S/L | 0.0984 | likely_benign | 0.1058 | benign | -0.065 | Destabilizing | 0.001 | N | 0.295 | neutral | None | None | None | None | I |
| S/M | 0.1539 | likely_benign | 0.1503 | benign | -0.323 | Destabilizing | 0.004 | N | 0.261 | neutral | None | None | None | None | I |
| S/N | 0.0907 | likely_benign | 0.0964 | benign | -0.323 | Destabilizing | 0.014 | N | 0.365 | neutral | N | 0.490265779 | None | None | I |
| S/P | 0.1048 | likely_benign | 0.129 | benign | -0.076 | Destabilizing | None | N | 0.221 | neutral | None | None | None | None | I |
| S/Q | 0.3182 | likely_benign | 0.3614 | ambiguous | -0.474 | Destabilizing | 0.044 | N | 0.361 | neutral | None | None | None | None | I |
| S/R | 0.2901 | likely_benign | 0.3605 | ambiguous | -0.182 | Destabilizing | 0.033 | N | 0.483 | neutral | N | 0.491130694 | None | None | I |
| S/T | 0.0664 | likely_benign | 0.0677 | benign | -0.351 | Destabilizing | None | N | 0.076 | neutral | N | 0.490848369 | None | None | I |
| S/V | 0.1316 | likely_benign | 0.1284 | benign | -0.076 | Destabilizing | 0.003 | N | 0.301 | neutral | None | None | None | None | I |
| S/W | 0.2898 | likely_benign | 0.3404 | ambiguous | -0.951 | Destabilizing | 0.788 | D | 0.488 | neutral | None | None | None | None | I |
| S/Y | 0.164 | likely_benign | 0.1912 | benign | -0.615 | Destabilizing | 0.245 | N | 0.546 | 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.