Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17970 | 54133;54134;54135 | chr2:178605269;178605268;178605267 | chr2:179469996;179469995;179469994 |
| N2AB | 16329 | 49210;49211;49212 | chr2:178605269;178605268;178605267 | chr2:179469996;179469995;179469994 |
| N2A | 15402 | 46429;46430;46431 | chr2:178605269;178605268;178605267 | chr2:179469996;179469995;179469994 |
| N2B | 8905 | 26938;26939;26940 | chr2:178605269;178605268;178605267 | chr2:179469996;179469995;179469994 |
| Novex-1 | 9030 | 27313;27314;27315 | chr2:178605269;178605268;178605267 | chr2:179469996;179469995;179469994 |
| Novex-2 | 9097 | 27514;27515;27516 | chr2:178605269;178605268;178605267 | chr2:179469996;179469995;179469994 |
| 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/I | None | None | 0.017 | N | 0.539 | 0.117 | 0.439975540334 | gnomAD-4.0.0 | 6.9269E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06493E-07 | 0 | 0 |
| S/N | rs368532455  |
-1.175 | 0.014 | N | 0.438 | 0.116 | None | gnomAD-2.1.1 | 4.31E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.42E-06 | 0 |
| S/N | rs368532455 |
-1.175 | 0.014 | N | 0.438 | 0.116 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs368532455 |
-1.175 | 0.014 | N | 0.438 | 0.116 | None | gnomAD-4.0.0 | 4.38723E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.97745E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0522 | likely_benign | 0.0523 | benign | -0.149 | Destabilizing | None | N | 0.203 | neutral | None | None | None | None | N |
| S/C | 0.2126 | likely_benign | 0.1919 | benign | -0.683 | Destabilizing | 0.196 | N | 0.545 | neutral | N | 0.480414351 | None | None | N |
| S/D | 0.2804 | likely_benign | 0.2752 | benign | -0.18 | Destabilizing | 0.018 | N | 0.457 | neutral | None | None | None | None | N |
| S/E | 0.3328 | likely_benign | 0.3349 | benign | -0.273 | Destabilizing | 0.004 | N | 0.407 | neutral | None | None | None | None | N |
| S/F | 0.2414 | likely_benign | 0.2271 | benign | -0.948 | Destabilizing | 0.085 | N | 0.577 | neutral | None | None | None | None | N |
| S/G | 0.0962 | likely_benign | 0.0926 | benign | -0.16 | Destabilizing | 0.003 | N | 0.424 | neutral | N | 0.410148976 | None | None | N |
| S/H | 0.3168 | likely_benign | 0.3072 | benign | -0.31 | Destabilizing | None | N | 0.393 | neutral | None | None | None | None | N |
| S/I | 0.1783 | likely_benign | 0.1718 | benign | -0.241 | Destabilizing | 0.017 | N | 0.539 | neutral | N | 0.480067634 | None | None | N |
| S/K | 0.4623 | ambiguous | 0.4942 | ambiguous | -0.472 | Destabilizing | None | N | 0.261 | neutral | None | None | None | None | N |
| S/L | 0.1095 | likely_benign | 0.1031 | benign | -0.241 | Destabilizing | 0.004 | N | 0.516 | neutral | None | None | None | None | N |
| S/M | 0.1691 | likely_benign | 0.1619 | benign | -0.455 | Destabilizing | 0.245 | N | 0.563 | neutral | None | None | None | None | N |
| S/N | 0.1248 | likely_benign | 0.1216 | benign | -0.375 | Destabilizing | 0.014 | N | 0.438 | neutral | N | 0.449571369 | None | None | N |
| S/P | 0.1178 | likely_benign | 0.1185 | benign | -0.191 | Destabilizing | 0.044 | N | 0.529 | neutral | None | None | None | None | N |
| S/Q | 0.3309 | likely_benign | 0.3375 | benign | -0.524 | Destabilizing | 0.022 | N | 0.495 | neutral | None | None | None | None | N |
| S/R | 0.4979 | ambiguous | 0.5148 | ambiguous | -0.201 | Destabilizing | 0.007 | N | 0.503 | neutral | N | 0.460345723 | None | None | N |
| S/T | 0.0755 | likely_benign | 0.0723 | benign | -0.461 | Destabilizing | None | N | 0.219 | neutral | N | 0.460345723 | None | None | N |
| S/V | 0.147 | likely_benign | 0.1391 | benign | -0.191 | Destabilizing | 0.009 | N | 0.517 | neutral | None | None | None | None | N |
| S/W | 0.4045 | ambiguous | 0.3733 | ambiguous | -1.09 | Destabilizing | 0.788 | D | 0.581 | neutral | None | None | None | None | N |
| S/Y | 0.2335 | likely_benign | 0.2213 | benign | -0.756 | Destabilizing | 0.044 | N | 0.536 | 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.