Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28 | 307;308;309 | chr2:178804561;178804560;178804559 | chr2:179669288;179669287;179669286 |
| N2AB | 28 | 307;308;309 | chr2:178804561;178804560;178804559 | chr2:179669288;179669287;179669286 |
| N2A | 28 | 307;308;309 | chr2:178804561;178804560;178804559 | chr2:179669288;179669287;179669286 |
| N2B | 28 | 307;308;309 | chr2:178804561;178804560;178804559 | chr2:179669288;179669287;179669286 |
| Novex-1 | 28 | 307;308;309 | chr2:178804561;178804560;178804559 | chr2:179669288;179669287;179669286 |
| Novex-2 | 28 | 307;308;309 | chr2:178804561;178804560;178804559 | chr2:179669288;179669287;179669286 |
| Novex-3 | 28 | 307;308;309 | chr2:178804561;178804560;178804559 | chr2:179669288;179669287;179669286 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | rs752309578  |
-0.664 | 0.09 | N | 0.494 | 0.443 | 0.35139820857 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.275(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| H/Y | None | None | 0.846 | N | 0.481 | 0.315 | 0.472663046089 | gnomAD-4.0.0 | 1.20036E-06 | None | None | None | 0.173(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31254E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.3396 | likely_benign | 0.2214 | benign | -0.88 | Destabilizing | 0.466 | N | 0.543 | neutral | None | None | None | -0.203(TCAP) | N |
| H/C | 0.4206 | ambiguous | 0.34 | benign | -0.121 | Destabilizing | 0.981 | D | 0.637 | neutral | None | None | None | -0.449(TCAP) | N |
| H/D | 0.3085 | likely_benign | 0.2052 | benign | -0.527 | Destabilizing | 0.09 | N | 0.494 | neutral | N | 0.491605019 | None | -0.275(TCAP) | N |
| H/E | 0.3556 | ambiguous | 0.2514 | benign | -0.449 | Destabilizing | 0.005 | N | 0.155 | neutral | None | None | None | -0.38(TCAP) | N |
| H/F | 0.3825 | ambiguous | 0.2819 | benign | 0.034 | Stabilizing | 0.962 | D | 0.589 | neutral | None | None | None | 0.16(TCAP) | N |
| H/G | 0.4023 | ambiguous | 0.2781 | benign | -1.218 | Destabilizing | 0.679 | D | 0.591 | neutral | None | None | None | -0.112(TCAP) | N |
| H/I | 0.4301 | ambiguous | 0.2816 | benign | 0.041 | Stabilizing | 0.857 | D | 0.637 | neutral | None | None | None | -0.521(TCAP) | N |
| H/K | 0.2968 | likely_benign | 0.2291 | benign | -0.752 | Destabilizing | 0.148 | N | 0.487 | neutral | None | None | None | -0.705(TCAP) | N |
| H/L | 0.1854 | likely_benign | 0.1235 | benign | 0.041 | Stabilizing | 0.388 | N | 0.631 | neutral | N | 0.450745108 | None | -0.521(TCAP) | N |
| H/M | 0.6033 | likely_pathogenic | 0.4468 | ambiguous | -0.036 | Destabilizing | 0.948 | D | 0.609 | neutral | None | None | None | -0.65(TCAP) | N |
| H/N | 0.124 | likely_benign | 0.0902 | benign | -0.673 | Destabilizing | 0.324 | N | 0.459 | neutral | N | 0.482537178 | None | -0.209(TCAP) | N |
| H/P | 0.4898 | ambiguous | 0.3372 | benign | -0.245 | Destabilizing | 0.493 | N | 0.622 | neutral | N | 0.461293582 | None | -0.409(TCAP) | N |
| H/Q | 0.2088 | likely_benign | 0.1495 | benign | -0.477 | Destabilizing | 0.001 | N | 0.162 | neutral | N | 0.438829462 | None | -0.194(TCAP) | N |
| H/R | 0.1184 | likely_benign | 0.0954 | benign | -1.089 | Destabilizing | 0.241 | N | 0.443 | neutral | N | 0.399002901 | None | -1.701(TCAP) | N |
| H/S | 0.242 | likely_benign | 0.1637 | benign | -0.766 | Destabilizing | 0.466 | N | 0.503 | neutral | None | None | None | 0.191(TCAP) | N |
| H/T | 0.3108 | likely_benign | 0.2017 | benign | -0.594 | Destabilizing | 0.388 | N | 0.609 | neutral | None | None | None | 0.082(TCAP) | N |
| H/V | 0.3362 | likely_benign | 0.2262 | benign | -0.245 | Destabilizing | 0.64 | D | 0.618 | neutral | None | None | None | -0.409(TCAP) | N |
| H/W | 0.4509 | ambiguous | 0.3739 | ambiguous | 0.243 | Stabilizing | 0.996 | D | 0.61 | neutral | None | None | None | 0.234(TCAP) | N |
| H/Y | 0.1445 | likely_benign | 0.1106 | benign | 0.448 | Stabilizing | 0.846 | D | 0.481 | neutral | N | 0.506136236 | None | 0.173(TCAP) | 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.