Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24371 | 73336;73337;73338 | chr2:178573021;178573020;178573019 | chr2:179437748;179437747;179437746 |
| N2AB | 22730 | 68413;68414;68415 | chr2:178573021;178573020;178573019 | chr2:179437748;179437747;179437746 |
| N2A | 21803 | 65632;65633;65634 | chr2:178573021;178573020;178573019 | chr2:179437748;179437747;179437746 |
| N2B | 15306 | 46141;46142;46143 | chr2:178573021;178573020;178573019 | chr2:179437748;179437747;179437746 |
| Novex-1 | 15431 | 46516;46517;46518 | chr2:178573021;178573020;178573019 | chr2:179437748;179437747;179437746 |
| Novex-2 | 15498 | 46717;46718;46719 | chr2:178573021;178573020;178573019 | chr2:179437748;179437747;179437746 |
| 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/H | None | None | None | N | 0.114 | 0.078 | 0.130388298395 | gnomAD-4.0.0 | 2.05351E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6991E-06 | 0 | 0 |
| Q/K | rs1319568037  |
None | None | N | 0.087 | 0.14 | 0.0551355673512 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Q/K | rs1319568037 |
None | None | N | 0.087 | 0.14 | 0.0551355673512 | gnomAD-4.0.0 | 1.23995E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6957E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1798 | likely_benign | 0.1821 | benign | -0.38 | Destabilizing | 0.002 | N | 0.193 | neutral | None | None | None | None | N |
| Q/C | 0.3764 | ambiguous | 0.3707 | ambiguous | 0.016 | Stabilizing | 0.497 | N | 0.271 | neutral | None | None | None | None | N |
| Q/D | 0.2695 | likely_benign | 0.281 | benign | 0.086 | Stabilizing | 0.018 | N | 0.199 | neutral | None | None | None | None | N |
| Q/E | 0.0787 | likely_benign | 0.0791 | benign | 0.139 | Stabilizing | 0.003 | N | 0.122 | neutral | N | 0.444311904 | None | None | N |
| Q/F | 0.5365 | ambiguous | 0.5215 | ambiguous | -0.21 | Destabilizing | 0.245 | N | 0.368 | neutral | None | None | None | None | N |
| Q/G | 0.2291 | likely_benign | 0.2183 | benign | -0.671 | Destabilizing | 0.004 | N | 0.299 | neutral | None | None | None | None | N |
| Q/H | 0.1146 | likely_benign | 0.1203 | benign | -0.375 | Destabilizing | None | N | 0.114 | neutral | N | 0.465591253 | None | None | N |
| Q/I | 0.2389 | likely_benign | 0.2349 | benign | 0.33 | Stabilizing | 0.044 | N | 0.373 | neutral | None | None | None | None | N |
| Q/K | 0.0527 | likely_benign | 0.0532 | benign | -0.099 | Destabilizing | None | N | 0.087 | neutral | N | 0.420048178 | None | None | N |
| Q/L | 0.1118 | likely_benign | 0.1061 | benign | 0.33 | Stabilizing | 0.014 | N | 0.282 | neutral | N | 0.459684001 | None | None | N |
| Q/M | 0.2217 | likely_benign | 0.2179 | benign | 0.424 | Stabilizing | 0.497 | N | 0.236 | neutral | None | None | None | None | N |
| Q/N | 0.161 | likely_benign | 0.1639 | benign | -0.589 | Destabilizing | 0.018 | N | 0.176 | neutral | None | None | None | None | N |
| Q/P | 0.4852 | ambiguous | 0.4639 | ambiguous | 0.124 | Stabilizing | 0.065 | N | 0.317 | neutral | N | 0.500415903 | None | None | N |
| Q/R | 0.0747 | likely_benign | 0.0764 | benign | 0.021 | Stabilizing | None | N | 0.108 | neutral | N | 0.447120136 | None | None | N |
| Q/S | 0.1636 | likely_benign | 0.1683 | benign | -0.656 | Destabilizing | None | N | 0.089 | neutral | None | None | None | None | N |
| Q/T | 0.1029 | likely_benign | 0.1074 | benign | -0.421 | Destabilizing | None | N | 0.139 | neutral | None | None | None | None | N |
| Q/V | 0.1598 | likely_benign | 0.1613 | benign | 0.124 | Stabilizing | 0.018 | N | 0.272 | neutral | None | None | None | None | N |
| Q/W | 0.4215 | ambiguous | 0.4174 | ambiguous | -0.129 | Destabilizing | 0.788 | D | 0.254 | neutral | None | None | None | None | N |
| Q/Y | 0.3358 | likely_benign | 0.3349 | benign | 0.099 | Stabilizing | 0.022 | N | 0.321 | 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.