Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9265 | 28018;28019;28020 | chr2:178712037;178712036;178712035 | chr2:179576764;179576763;179576762 |
| N2AB | 8948 | 27067;27068;27069 | chr2:178712037;178712036;178712035 | chr2:179576764;179576763;179576762 |
| N2A | 8021 | 24286;24287;24288 | chr2:178712037;178712036;178712035 | chr2:179576764;179576763;179576762 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs397517524  |
-1.006 | 0.56 | N | 0.343 | 0.167 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 5.79486E-04 | 0 | None | 0 | None | 0 | 2.34E-05 | 1.40449E-04 |
| N/H | rs397517524 |
-1.006 | 0.56 | N | 0.343 | 0.167 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 2.59366E-03 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/H | rs397517524 |
-1.006 | 0.56 | N | 0.343 | 0.167 | None | gnomAD-4.0.0 | 3.16042E-05 | None | None | None | None | N | None | 1.33454E-05 | 0 | None | 1.21622E-03 | 0 | None | 0 | 0 | 5.08573E-06 | 0 | 1.28094E-04 |
| N/S | rs752705285 |
-0.675 | None | N | 0.093 | 0.078 | 0.0551355673512 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| N/S | rs752705285 |
-0.675 | None | N | 0.093 | 0.078 | 0.0551355673512 | gnomAD-4.0.0 | 8.89489E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89445E-06 | 0 | 3.31323E-05 |
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 | 0.1647 | likely_benign | 0.2613 | benign | -0.64 | Destabilizing | None | N | 0.141 | neutral | None | None | None | None | N |
| N/C | 0.2118 | likely_benign | 0.3638 | ambiguous | 0.195 | Stabilizing | 0.356 | N | 0.458 | neutral | None | None | None | None | N |
| N/D | 0.1348 | likely_benign | 0.2228 | benign | -0.181 | Destabilizing | 0.024 | N | 0.207 | neutral | N | 0.488247187 | None | None | N |
| N/E | 0.3274 | likely_benign | 0.4837 | ambiguous | -0.178 | Destabilizing | 0.031 | N | 0.201 | neutral | None | None | None | None | N |
| N/F | 0.361 | ambiguous | 0.5497 | ambiguous | -0.8 | Destabilizing | 0.214 | N | 0.527 | neutral | None | None | None | None | N |
| N/G | 0.1963 | likely_benign | 0.2582 | benign | -0.871 | Destabilizing | 0.007 | N | 0.197 | neutral | None | None | None | None | N |
| N/H | 0.0739 | likely_benign | 0.1134 | benign | -0.823 | Destabilizing | 0.56 | D | 0.343 | neutral | N | 0.479667776 | None | None | N |
| N/I | 0.1687 | likely_benign | 0.2901 | benign | -0.101 | Destabilizing | 0.029 | N | 0.46 | neutral | N | 0.507854455 | None | None | N |
| N/K | 0.2324 | likely_benign | 0.3659 | ambiguous | 0.012 | Stabilizing | 0.024 | N | 0.205 | neutral | N | 0.473816453 | None | None | N |
| N/L | 0.1649 | likely_benign | 0.2241 | benign | -0.101 | Destabilizing | None | N | 0.193 | neutral | None | None | None | None | N |
| N/M | 0.2738 | likely_benign | 0.3954 | ambiguous | 0.45 | Stabilizing | 0.214 | N | 0.468 | neutral | None | None | None | None | N |
| N/P | 0.258 | likely_benign | 0.2982 | benign | -0.253 | Destabilizing | 0.136 | N | 0.463 | neutral | None | None | None | None | N |
| N/Q | 0.2269 | likely_benign | 0.3361 | benign | -0.615 | Destabilizing | 0.136 | N | 0.289 | neutral | None | None | None | None | N |
| N/R | 0.2281 | likely_benign | 0.3313 | benign | 0.103 | Stabilizing | 0.072 | N | 0.217 | neutral | None | None | None | None | N |
| N/S | 0.0605 | likely_benign | 0.0763 | benign | -0.406 | Destabilizing | None | N | 0.093 | neutral | N | 0.423099631 | None | None | N |
| N/T | 0.0958 | likely_benign | 0.1473 | benign | -0.24 | Destabilizing | None | N | 0.104 | neutral | N | 0.472432373 | None | None | N |
| N/V | 0.1939 | likely_benign | 0.3414 | ambiguous | -0.253 | Destabilizing | 0.016 | N | 0.372 | neutral | None | None | None | None | N |
| N/W | 0.6176 | likely_pathogenic | 0.7708 | pathogenic | -0.62 | Destabilizing | 0.864 | D | 0.443 | neutral | None | None | None | None | N |
| N/Y | 0.1221 | likely_benign | 0.2064 | benign | -0.4 | Destabilizing | 0.295 | N | 0.5 | neutral | N | 0.50481415 | 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.