Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20140 | 60643;60644;60645 | chr2:178591307;178591306;178591305 | chr2:179456034;179456033;179456032 |
| N2AB | 18499 | 55720;55721;55722 | chr2:178591307;178591306;178591305 | chr2:179456034;179456033;179456032 |
| N2A | 17572 | 52939;52940;52941 | chr2:178591307;178591306;178591305 | chr2:179456034;179456033;179456032 |
| N2B | 11075 | 33448;33449;33450 | chr2:178591307;178591306;178591305 | chr2:179456034;179456033;179456032 |
| Novex-1 | 11200 | 33823;33824;33825 | chr2:178591307;178591306;178591305 | chr2:179456034;179456033;179456032 |
| Novex-2 | 11267 | 34024;34025;34026 | chr2:178591307;178591306;178591305 | chr2:179456034;179456033;179456032 |
| 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/S | rs1187229401  |
-0.425 | 0.01 | N | 0.105 | 0.111 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs1187229401 |
-0.425 | 0.01 | N | 0.105 | 0.111 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs1187229401 |
-0.425 | 0.01 | N | 0.105 | 0.111 | None | gnomAD-4.0.0 | 3.84579E-06 | None | None | None | None | N | None | 5.07528E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | None | None | 0.27 | N | 0.187 | 0.17 | 0.181679512989 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77331E-05 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs879086626 |
None | 0.975 | N | 0.391 | 0.294 | None | gnomAD-4.0.0 | 1.43726E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.88934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2944 | likely_benign | 0.2695 | benign | -0.456 | Destabilizing | 0.013 | N | 0.135 | neutral | None | None | None | None | N |
| N/C | 0.4302 | ambiguous | 0.3835 | ambiguous | 0.453 | Stabilizing | 0.995 | D | 0.375 | neutral | None | None | None | None | N |
| N/D | 0.0825 | likely_benign | 0.0803 | benign | -0.204 | Destabilizing | 0.001 | N | 0.072 | neutral | N | 0.3971816 | None | None | N |
| N/E | 0.2608 | likely_benign | 0.2566 | benign | -0.214 | Destabilizing | 0.001 | N | 0.074 | neutral | None | None | None | None | N |
| N/F | 0.6953 | likely_pathogenic | 0.6492 | pathogenic | -0.713 | Destabilizing | 0.981 | D | 0.405 | neutral | None | None | None | None | N |
| N/G | 0.2581 | likely_benign | 0.2532 | benign | -0.675 | Destabilizing | 0.176 | N | 0.185 | neutral | None | None | None | None | N |
| N/H | 0.1201 | likely_benign | 0.108 | benign | -0.743 | Destabilizing | 0.927 | D | 0.263 | neutral | N | 0.481397707 | None | None | N |
| N/I | 0.5561 | ambiguous | 0.5255 | ambiguous | 0.047 | Stabilizing | 0.784 | D | 0.428 | neutral | N | 0.511720614 | None | None | N |
| N/K | 0.2461 | likely_benign | 0.2242 | benign | 0.013 | Stabilizing | 0.27 | N | 0.187 | neutral | N | 0.412420411 | None | None | N |
| N/L | 0.484 | ambiguous | 0.4576 | ambiguous | 0.047 | Stabilizing | 0.704 | D | 0.369 | neutral | None | None | None | None | N |
| N/M | 0.5121 | ambiguous | 0.4761 | ambiguous | 0.614 | Stabilizing | 0.981 | D | 0.377 | neutral | None | None | None | None | N |
| N/P | 0.8598 | likely_pathogenic | 0.8188 | pathogenic | -0.093 | Destabilizing | 0.828 | D | 0.391 | neutral | None | None | None | None | N |
| N/Q | 0.2815 | likely_benign | 0.2578 | benign | -0.47 | Destabilizing | 0.543 | D | 0.145 | neutral | None | None | None | None | N |
| N/R | 0.3445 | ambiguous | 0.3202 | benign | 0.079 | Stabilizing | 0.704 | D | 0.173 | neutral | None | None | None | None | N |
| N/S | 0.1217 | likely_benign | 0.1133 | benign | -0.237 | Destabilizing | 0.01 | N | 0.105 | neutral | N | 0.409822823 | None | None | N |
| N/T | 0.2078 | likely_benign | 0.1843 | benign | -0.095 | Destabilizing | 0.27 | N | 0.187 | neutral | N | 0.499983468 | None | None | N |
| N/V | 0.4958 | ambiguous | 0.4697 | ambiguous | -0.093 | Destabilizing | 0.704 | D | 0.371 | neutral | None | None | None | None | N |
| N/W | 0.8214 | likely_pathogenic | 0.7897 | pathogenic | -0.644 | Destabilizing | 0.995 | D | 0.391 | neutral | None | None | None | None | N |
| N/Y | 0.1977 | likely_benign | 0.1808 | benign | -0.4 | Destabilizing | 0.975 | D | 0.391 | neutral | N | 0.465313534 | 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.