Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6719 | 20380;20381;20382 | chr2:178727210;178727209;178727208 | chr2:179591937;179591936;179591935 |
| N2AB | 6402 | 19429;19430;19431 | chr2:178727210;178727209;178727208 | chr2:179591937;179591936;179591935 |
| N2A | 5475 | 16648;16649;16650 | chr2:178727210;178727209;178727208 | chr2:179591937;179591936;179591935 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs770377168  |
None | 0.351 | N | 0.414 | 0.201 | 0.659007425792 | gnomAD-4.0.0 | 2.05334E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52067E-05 | None | 0 | 0 | 1.79945E-06 | 0 | 0 |
| I/T | rs770377168 |
-0.224 | 0.003 | N | 0.131 | 0.215 | 0.582860479048 | gnomAD-2.1.1 | 3.93E-05 | None | None | None | None | N | None | 0 | 1.41683E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 2.8177E-04 |
| I/T | rs770377168 |
-0.224 | 0.003 | N | 0.131 | 0.215 | 0.582860479048 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/T | rs770377168 |
-0.224 | 0.003 | N | 0.131 | 0.215 | 0.582860479048 | gnomAD-4.0.0 | 1.48778E-05 | None | None | None | None | N | None | 1.33565E-05 | 8.34195E-05 | None | 0 | 0 | None | 0 | 0 | 1.27179E-05 | 0 | 4.80507E-05 |
| I/V | None | None | 0.003 | N | 0.135 | 0.075 | 0.411932830014 | gnomAD-4.0.0 | 1.59253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43373E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1162 | likely_benign | 0.121 | benign | -0.618 | Destabilizing | 0.061 | N | 0.265 | neutral | None | None | None | None | N |
| I/C | 0.59 | likely_pathogenic | 0.5502 | ambiguous | -0.717 | Destabilizing | 0.94 | D | 0.278 | neutral | None | None | None | None | N |
| I/D | 0.3215 | likely_benign | 0.3376 | benign | 0.176 | Stabilizing | 0.002 | N | 0.253 | neutral | None | None | None | None | N |
| I/E | 0.2186 | likely_benign | 0.245 | benign | 0.12 | Stabilizing | 0.01 | N | 0.253 | neutral | None | None | None | None | N |
| I/F | 0.1094 | likely_benign | 0.102 | benign | -0.442 | Destabilizing | 0.213 | N | 0.155 | neutral | N | 0.512913558 | None | None | N |
| I/G | 0.3411 | ambiguous | 0.3407 | ambiguous | -0.803 | Destabilizing | 0.418 | N | 0.333 | neutral | None | None | None | None | N |
| I/H | 0.2449 | likely_benign | 0.239 | benign | 0.029 | Stabilizing | 0.836 | D | 0.33 | neutral | None | None | None | None | N |
| I/K | 0.1737 | likely_benign | 0.1835 | benign | -0.309 | Destabilizing | 0.418 | N | 0.332 | neutral | None | None | None | None | N |
| I/L | 0.086 | likely_benign | 0.0835 | benign | -0.241 | Destabilizing | 0.001 | N | 0.113 | neutral | N | 0.440109311 | None | None | N |
| I/M | 0.0767 | likely_benign | 0.0753 | benign | -0.462 | Destabilizing | 0.017 | N | 0.159 | neutral | N | 0.467661271 | None | None | N |
| I/N | 0.1367 | likely_benign | 0.1396 | benign | -0.231 | Destabilizing | 0.351 | N | 0.414 | neutral | N | 0.446533851 | None | None | N |
| I/P | 0.6156 | likely_pathogenic | 0.5982 | pathogenic | -0.334 | Destabilizing | 0.593 | D | 0.417 | neutral | None | None | None | None | N |
| I/Q | 0.1855 | likely_benign | 0.1892 | benign | -0.364 | Destabilizing | 0.418 | N | 0.397 | neutral | None | None | None | None | N |
| I/R | 0.1139 | likely_benign | 0.1202 | benign | 0.164 | Stabilizing | 0.418 | N | 0.42 | neutral | None | None | None | None | N |
| I/S | 0.0999 | likely_benign | 0.1017 | benign | -0.751 | Destabilizing | 0.101 | N | 0.259 | neutral | N | 0.435047421 | None | None | N |
| I/T | 0.0619 | likely_benign | 0.064 | benign | -0.691 | Destabilizing | 0.003 | N | 0.131 | neutral | N | 0.420867402 | None | None | N |
| I/V | 0.0708 | likely_benign | 0.0701 | benign | -0.334 | Destabilizing | 0.003 | N | 0.135 | neutral | N | 0.403764508 | None | None | N |
| I/W | 0.4945 | ambiguous | 0.4651 | ambiguous | -0.469 | Destabilizing | 0.983 | D | 0.313 | neutral | None | None | None | None | N |
| I/Y | 0.3692 | ambiguous | 0.3537 | ambiguous | -0.234 | Destabilizing | 0.01 | N | 0.186 | 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.