Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21334 | 64225;64226;64227 | chr2:178587211;178587210;178587209 | chr2:179451938;179451937;179451936 |
| N2AB | 19693 | 59302;59303;59304 | chr2:178587211;178587210;178587209 | chr2:179451938;179451937;179451936 |
| N2A | 18766 | 56521;56522;56523 | chr2:178587211;178587210;178587209 | chr2:179451938;179451937;179451936 |
| N2B | 12269 | 37030;37031;37032 | chr2:178587211;178587210;178587209 | chr2:179451938;179451937;179451936 |
| Novex-1 | 12394 | 37405;37406;37407 | chr2:178587211;178587210;178587209 | chr2:179451938;179451937;179451936 |
| Novex-2 | 12461 | 37606;37607;37608 | chr2:178587211;178587210;178587209 | chr2:179451938;179451937;179451936 |
| 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/K | rs765952193  |
-0.299 | 0.055 | N | 0.257 | 0.114 | 0.0666544352282 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.65673E-04 |
| N/K | rs765952193 |
-0.299 | 0.055 | N | 0.257 | 0.114 | 0.0666544352282 | gnomAD-4.0.0 | 1.43722E-05 | None | None | None | None | N | None | 2.99133E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7094E-05 | 0 | 1.65744E-05 |
| N/S | rs753121509 |
-1.108 | 0.001 | N | 0.109 | 0.101 | 0.0920862733494 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs753121509 |
-1.108 | 0.001 | N | 0.109 | 0.101 | 0.0920862733494 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs753121509 |
-1.108 | 0.001 | N | 0.109 | 0.101 | 0.0920862733494 | gnomAD-4.0.0 | 2.41763E-05 | None | None | None | None | N | None | 4.00748E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.05219E-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 | 0.1565 | likely_benign | 0.1403 | benign | -1.019 | Destabilizing | 0.007 | N | 0.259 | neutral | None | None | None | None | N |
| N/C | 0.1279 | likely_benign | 0.1355 | benign | -0.09 | Destabilizing | 0.001 | N | 0.243 | neutral | None | None | None | None | N |
| N/D | 0.324 | likely_benign | 0.259 | benign | -0.715 | Destabilizing | None | N | 0.113 | neutral | N | 0.502722702 | None | None | N |
| N/E | 0.4463 | ambiguous | 0.3857 | ambiguous | -0.572 | Destabilizing | 0.016 | N | 0.254 | neutral | None | None | None | None | N |
| N/F | 0.3816 | ambiguous | 0.3526 | ambiguous | -0.578 | Destabilizing | 0.356 | N | 0.511 | neutral | None | None | None | None | N |
| N/G | 0.2352 | likely_benign | 0.2144 | benign | -1.401 | Destabilizing | 0.016 | N | 0.258 | neutral | None | None | None | None | N |
| N/H | 0.1009 | likely_benign | 0.0933 | benign | -0.996 | Destabilizing | 0.56 | D | 0.413 | neutral | N | 0.471746435 | None | None | N |
| N/I | 0.1211 | likely_benign | 0.1259 | benign | -0.023 | Destabilizing | None | N | 0.169 | neutral | N | 0.466628616 | None | None | N |
| N/K | 0.2861 | likely_benign | 0.2376 | benign | -0.367 | Destabilizing | 0.055 | N | 0.257 | neutral | N | 0.423395127 | None | None | N |
| N/L | 0.1495 | likely_benign | 0.139 | benign | -0.023 | Destabilizing | 0.016 | N | 0.283 | neutral | None | None | None | None | N |
| N/M | 0.1682 | likely_benign | 0.1689 | benign | 0.352 | Stabilizing | 0.356 | N | 0.449 | neutral | None | None | None | None | N |
| N/P | 0.8842 | likely_pathogenic | 0.8255 | pathogenic | -0.325 | Destabilizing | 0.136 | N | 0.439 | neutral | None | None | None | None | N |
| N/Q | 0.2601 | likely_benign | 0.2346 | benign | -0.88 | Destabilizing | 0.356 | N | 0.404 | neutral | None | None | None | None | N |
| N/R | 0.3108 | likely_benign | 0.2472 | benign | -0.455 | Destabilizing | 0.072 | N | 0.39 | neutral | None | None | None | None | N |
| N/S | 0.0744 | likely_benign | 0.0696 | benign | -1.082 | Destabilizing | 0.001 | N | 0.109 | neutral | N | 0.458526421 | None | None | N |
| N/T | 0.0769 | likely_benign | 0.0716 | benign | -0.74 | Destabilizing | None | N | 0.068 | neutral | N | 0.391391778 | None | None | N |
| N/V | 0.1161 | likely_benign | 0.1155 | benign | -0.325 | Destabilizing | None | N | 0.189 | neutral | None | None | None | None | N |
| N/W | 0.6713 | likely_pathogenic | 0.6381 | pathogenic | -0.332 | Destabilizing | 0.864 | D | 0.482 | neutral | None | None | None | None | N |
| N/Y | 0.141 | likely_benign | 0.1363 | benign | -0.124 | Destabilizing | 0.295 | N | 0.47 | neutral | N | 0.473837547 | 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.