Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28994 | 87205;87206;87207 | chr2:178558479;178558478;178558477 | chr2:179423206;179423205;179423204 |
| N2AB | 27353 | 82282;82283;82284 | chr2:178558479;178558478;178558477 | chr2:179423206;179423205;179423204 |
| N2A | 26426 | 79501;79502;79503 | chr2:178558479;178558478;178558477 | chr2:179423206;179423205;179423204 |
| N2B | 19929 | 60010;60011;60012 | chr2:178558479;178558478;178558477 | chr2:179423206;179423205;179423204 |
| Novex-1 | 20054 | 60385;60386;60387 | chr2:178558479;178558478;178558477 | chr2:179423206;179423205;179423204 |
| Novex-2 | 20121 | 60586;60587;60588 | chr2:178558479;178558478;178558477 | chr2:179423206;179423205;179423204 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1215210190  |
-0.864 | None | N | 0.147 | 0.107 | 0.324161360171 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| V/A | rs1215210190 |
-0.864 | None | N | 0.147 | 0.107 | 0.324161360171 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1215210190 |
-0.864 | None | N | 0.147 | 0.107 | 0.324161360171 | gnomAD-4.0.0 | 8.67559E-06 | None | None | None | None | N | None | 1.33451E-05 | 0 | None | 0 | 8.9214E-05 | None | 0 | 0 | 7.6282E-06 | 0 | 0 |
| V/L | None | None | None | N | 0.127 | 0.071 | 0.149567049428 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0971 | likely_benign | 0.1089 | benign | -1.16 | Destabilizing | None | N | 0.147 | neutral | N | 0.451336664 | None | None | N |
| V/C | 0.5823 | likely_pathogenic | 0.6138 | pathogenic | -0.385 | Destabilizing | 0.628 | D | 0.469 | neutral | None | None | None | None | N |
| V/D | 0.264 | likely_benign | 0.308 | benign | -1.278 | Destabilizing | 0.072 | N | 0.527 | neutral | None | None | None | None | N |
| V/E | 0.1971 | likely_benign | 0.2238 | benign | -1.336 | Destabilizing | 0.055 | N | 0.501 | neutral | N | 0.393387225 | None | None | N |
| V/F | 0.1272 | likely_benign | 0.1351 | benign | -1.107 | Destabilizing | None | N | 0.285 | neutral | None | None | None | None | N |
| V/G | 0.1863 | likely_benign | 0.1995 | benign | -1.394 | Destabilizing | 0.055 | N | 0.43 | neutral | N | 0.455398476 | None | None | N |
| V/H | 0.342 | ambiguous | 0.3931 | ambiguous | -1.11 | Destabilizing | 0.864 | D | 0.461 | neutral | None | None | None | None | N |
| V/I | 0.0664 | likely_benign | 0.0675 | benign | -0.633 | Destabilizing | 0.016 | N | 0.371 | neutral | None | None | None | None | N |
| V/K | 0.2197 | likely_benign | 0.2571 | benign | -1.025 | Destabilizing | 0.072 | N | 0.449 | neutral | None | None | None | None | N |
| V/L | 0.1186 | likely_benign | 0.1306 | benign | -0.633 | Destabilizing | None | N | 0.127 | neutral | N | 0.482080858 | None | None | N |
| V/M | 0.0922 | likely_benign | 0.0919 | benign | -0.338 | Destabilizing | 0.002 | N | 0.229 | neutral | N | 0.488702973 | None | None | N |
| V/N | 0.1658 | likely_benign | 0.1825 | benign | -0.569 | Destabilizing | 0.214 | N | 0.523 | neutral | None | None | None | None | N |
| V/P | 0.3879 | ambiguous | 0.4669 | ambiguous | -0.776 | Destabilizing | 0.356 | N | 0.529 | neutral | None | None | None | None | N |
| V/Q | 0.2045 | likely_benign | 0.2305 | benign | -0.811 | Destabilizing | 0.214 | N | 0.486 | neutral | None | None | None | None | N |
| V/R | 0.2168 | likely_benign | 0.257 | benign | -0.466 | Destabilizing | 0.214 | N | 0.517 | neutral | None | None | None | None | N |
| V/S | 0.1217 | likely_benign | 0.1312 | benign | -0.883 | Destabilizing | 0.003 | N | 0.368 | neutral | None | None | None | None | N |
| V/T | 0.0911 | likely_benign | 0.0948 | benign | -0.856 | Destabilizing | 0.001 | N | 0.203 | neutral | None | None | None | None | N |
| V/W | 0.6301 | likely_pathogenic | 0.6669 | pathogenic | -1.284 | Destabilizing | 0.864 | D | 0.486 | neutral | None | None | None | None | N |
| V/Y | 0.3804 | ambiguous | 0.4253 | ambiguous | -1.022 | Destabilizing | 0.12 | N | 0.544 | 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.