Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2525 | 7798;7799;7800 | chr2:178773483;178773482;178773481 | chr2:179638210;179638209;179638208 |
| N2AB | 2525 | 7798;7799;7800 | chr2:178773483;178773482;178773481 | chr2:179638210;179638209;179638208 |
| N2A | 2525 | 7798;7799;7800 | chr2:178773483;178773482;178773481 | chr2:179638210;179638209;179638208 |
| N2B | 2479 | 7660;7661;7662 | chr2:178773483;178773482;178773481 | chr2:179638210;179638209;179638208 |
| Novex-1 | 2479 | 7660;7661;7662 | chr2:178773483;178773482;178773481 | chr2:179638210;179638209;179638208 |
| Novex-2 | 2479 | 7660;7661;7662 | chr2:178773483;178773482;178773481 | chr2:179638210;179638209;179638208 |
| Novex-3 | 2525 | 7798;7799;7800 | chr2:178773483;178773482;178773481 | chr2:179638210;179638209;179638208 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs935907056  |
-0.178 | 0.003 | N | 0.279 | 0.11 | 0.156986980423 | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.72539E-04 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs935907056 |
-0.178 | 0.003 | N | 0.279 | 0.11 | 0.156986980423 | gnomAD-4.0.0 | 4.10472E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.26027E-04 | None | 0 | 0 | 0 | 0 | 1.65596E-05 |
| N/K | rs879021503 |
None | 0.007 | N | 0.282 | 0.077 | 0.104622674875 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs879021503 |
None | 0.007 | N | 0.282 | 0.077 | 0.104622674875 | gnomAD-4.0.0 | 6.5703E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.0864 | likely_benign | 0.0825 | benign | -0.568 | Destabilizing | 0.002 | N | 0.301 | neutral | None | None | None | None | N |
| N/C | 0.1183 | likely_benign | 0.1133 | benign | 0.292 | Stabilizing | None | N | 0.385 | neutral | None | None | None | None | N |
| N/D | 0.0969 | likely_benign | 0.0941 | benign | -0.566 | Destabilizing | 0.003 | N | 0.279 | neutral | N | 0.435617356 | None | None | N |
| N/E | 0.2156 | likely_benign | 0.1989 | benign | -0.555 | Destabilizing | 0.009 | N | 0.293 | neutral | None | None | None | None | N |
| N/F | 0.2496 | likely_benign | 0.2418 | benign | -0.654 | Destabilizing | 0.085 | N | 0.537 | neutral | None | None | None | None | N |
| N/G | 0.1235 | likely_benign | 0.1209 | benign | -0.823 | Destabilizing | 0.004 | N | 0.259 | neutral | None | None | None | None | N |
| N/H | 0.081 | likely_benign | 0.0803 | benign | -0.844 | Destabilizing | 0.196 | N | 0.419 | neutral | N | 0.451687979 | None | None | N |
| N/I | 0.1137 | likely_benign | 0.1089 | benign | 0.044 | Stabilizing | 0.014 | N | 0.462 | neutral | N | 0.434809772 | None | None | N |
| N/K | 0.1504 | likely_benign | 0.1435 | benign | -0.207 | Destabilizing | 0.007 | N | 0.282 | neutral | N | 0.405338463 | None | None | N |
| N/L | 0.1356 | likely_benign | 0.1295 | benign | 0.044 | Stabilizing | 0.008 | N | 0.329 | neutral | None | None | None | None | N |
| N/M | 0.1866 | likely_benign | 0.1797 | benign | 0.63 | Stabilizing | 0.497 | N | 0.515 | neutral | None | None | None | None | N |
| N/P | 0.5068 | ambiguous | 0.4445 | ambiguous | -0.131 | Destabilizing | 0.044 | N | 0.487 | neutral | None | None | None | None | N |
| N/Q | 0.1694 | likely_benign | 0.1618 | benign | -0.778 | Destabilizing | 0.044 | N | 0.383 | neutral | None | None | None | None | N |
| N/R | 0.1478 | likely_benign | 0.1437 | benign | -0.13 | Destabilizing | 0.018 | N | 0.382 | neutral | None | None | None | None | N |
| N/S | 0.0466 | likely_benign | 0.048 | benign | -0.514 | Destabilizing | None | N | 0.181 | neutral | N | 0.294853963 | None | None | N |
| N/T | 0.0554 | likely_benign | 0.0555 | benign | -0.35 | Destabilizing | None | N | 0.164 | neutral | N | 0.359614881 | None | None | N |
| N/V | 0.1189 | likely_benign | 0.1144 | benign | -0.131 | Destabilizing | 0.009 | N | 0.341 | neutral | None | None | None | None | N |
| N/W | 0.4925 | ambiguous | 0.4732 | ambiguous | -0.523 | Destabilizing | 0.788 | D | 0.472 | neutral | None | None | None | None | N |
| N/Y | 0.0983 | likely_benign | 0.0956 | benign | -0.303 | Destabilizing | 0.065 | N | 0.566 | neutral | N | 0.432213186 | 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.