Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25150 | 75673;75674;75675 | chr2:178570684;178570683;178570682 | chr2:179435411;179435410;179435409 |
| N2AB | 23509 | 70750;70751;70752 | chr2:178570684;178570683;178570682 | chr2:179435411;179435410;179435409 |
| N2A | 22582 | 67969;67970;67971 | chr2:178570684;178570683;178570682 | chr2:179435411;179435410;179435409 |
| N2B | 16085 | 48478;48479;48480 | chr2:178570684;178570683;178570682 | chr2:179435411;179435410;179435409 |
| Novex-1 | 16210 | 48853;48854;48855 | chr2:178570684;178570683;178570682 | chr2:179435411;179435410;179435409 |
| Novex-2 | 16277 | 49054;49055;49056 | chr2:178570684;178570683;178570682 | chr2:179435411;179435410;179435409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1421628949  |
0.503 | None | N | 0.117 | 0.092 | 0.225902525712 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| Q/E | rs1421628949 |
0.503 | None | N | 0.117 | 0.092 | 0.225902525712 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs1421628949 |
0.503 | None | N | 0.117 | 0.092 | 0.225902525712 | gnomAD-4.0.0 | 6.4084E-06 | None | None | None | None | N | None | 0 | 1.69555E-05 | None | 0 | 0 | None | 0 | 0 | 9.57657E-06 | 0 | 0 |
| Q/P | None | None | 0.106 | N | 0.36 | 0.277 | 0.300110245524 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| Q/R | rs1264505015 |
None | None | N | 0.142 | 0.126 | 0.15556083564 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| Q/R | rs1264505015 |
None | None | N | 0.142 | 0.126 | 0.15556083564 | gnomAD-4.0.0 | 6.57307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1414 | likely_benign | 0.1497 | benign | -0.154 | Destabilizing | 0.007 | N | 0.304 | neutral | None | None | None | None | N |
| Q/C | 0.3263 | likely_benign | 0.3871 | ambiguous | 0.092 | Stabilizing | 0.864 | D | 0.331 | neutral | None | None | None | None | N |
| Q/D | 0.2037 | likely_benign | 0.2193 | benign | 0.153 | Stabilizing | 0.016 | N | 0.212 | neutral | None | None | None | None | N |
| Q/E | 0.0718 | likely_benign | 0.0721 | benign | 0.136 | Stabilizing | None | N | 0.117 | neutral | N | 0.443418975 | None | None | N |
| Q/F | 0.4159 | ambiguous | 0.4738 | ambiguous | -0.337 | Destabilizing | 0.12 | N | 0.42 | neutral | None | None | None | None | N |
| Q/G | 0.1787 | likely_benign | 0.207 | benign | -0.347 | Destabilizing | 0.016 | N | 0.315 | neutral | None | None | None | None | N |
| Q/H | 0.1165 | likely_benign | 0.1261 | benign | -0.176 | Destabilizing | None | N | 0.156 | neutral | N | 0.495946738 | None | None | N |
| Q/I | 0.1854 | likely_benign | 0.2023 | benign | 0.264 | Stabilizing | 0.038 | N | 0.457 | neutral | None | None | None | None | N |
| Q/K | 0.0656 | likely_benign | 0.0672 | benign | 0.084 | Stabilizing | None | N | 0.118 | neutral | N | 0.406882171 | None | None | N |
| Q/L | 0.0969 | likely_benign | 0.1066 | benign | 0.264 | Stabilizing | None | N | 0.207 | neutral | N | 0.495504021 | None | None | N |
| Q/M | 0.2092 | likely_benign | 0.2263 | benign | 0.353 | Stabilizing | 0.214 | N | 0.188 | neutral | None | None | None | None | N |
| Q/N | 0.1679 | likely_benign | 0.1846 | benign | -0.305 | Destabilizing | 0.016 | N | 0.197 | neutral | None | None | None | None | N |
| Q/P | 0.3804 | ambiguous | 0.456 | ambiguous | 0.153 | Stabilizing | 0.106 | N | 0.36 | neutral | N | 0.505295203 | None | None | N |
| Q/R | 0.0711 | likely_benign | 0.0764 | benign | 0.219 | Stabilizing | None | N | 0.142 | neutral | N | 0.432049975 | None | None | N |
| Q/S | 0.1554 | likely_benign | 0.1749 | benign | -0.294 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | N |
| Q/T | 0.108 | likely_benign | 0.1148 | benign | -0.153 | Destabilizing | 0.016 | N | 0.347 | neutral | None | None | None | None | N |
| Q/V | 0.1275 | likely_benign | 0.1358 | benign | 0.153 | Stabilizing | 0.016 | N | 0.356 | neutral | None | None | None | None | N |
| Q/W | 0.3536 | ambiguous | 0.42 | ambiguous | -0.336 | Destabilizing | 0.864 | D | 0.333 | neutral | None | None | None | None | N |
| Q/Y | 0.2576 | likely_benign | 0.3017 | benign | -0.069 | Destabilizing | 0.038 | N | 0.368 | 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.