Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26772 | 80539;80540;80541 | chr2:178565818;178565817;178565816 | chr2:179430545;179430544;179430543 |
| N2AB | 25131 | 75616;75617;75618 | chr2:178565818;178565817;178565816 | chr2:179430545;179430544;179430543 |
| N2A | 24204 | 72835;72836;72837 | chr2:178565818;178565817;178565816 | chr2:179430545;179430544;179430543 |
| N2B | 17707 | 53344;53345;53346 | chr2:178565818;178565817;178565816 | chr2:179430545;179430544;179430543 |
| Novex-1 | 17832 | 53719;53720;53721 | chr2:178565818;178565817;178565816 | chr2:179430545;179430544;179430543 |
| Novex-2 | 17899 | 53920;53921;53922 | chr2:178565818;178565817;178565816 | chr2:179430545;179430544;179430543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | None | N | 0.031 | 0.082 | 0.268660756437 | gnomAD-4.0.0 | 3.18318E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7183E-06 | 0 | 0 |
| V/I | rs750148761  |
-0.051 | None | N | 0.093 | 0.075 | 0.235664433957 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| V/I | rs750148761 |
-0.051 | None | N | 0.093 | 0.075 | 0.235664433957 | gnomAD-4.0.0 | 6.15847E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.04341E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0653 | likely_benign | 0.0596 | benign | -0.285 | Destabilizing | None | N | 0.031 | neutral | N | 0.423549843 | None | None | I |
| V/C | 0.4371 | ambiguous | 0.4108 | ambiguous | -0.715 | Destabilizing | 0.131 | N | 0.193 | neutral | None | None | None | None | I |
| V/D | 0.155 | likely_benign | 0.1382 | benign | -0.308 | Destabilizing | 0.003 | N | 0.355 | neutral | N | 0.454835542 | None | None | I |
| V/E | 0.1376 | likely_benign | 0.1246 | benign | -0.424 | Destabilizing | None | N | 0.121 | neutral | None | None | None | None | I |
| V/F | 0.1301 | likely_benign | 0.1129 | benign | -0.704 | Destabilizing | 0.008 | N | 0.317 | neutral | N | 0.515998644 | None | None | I |
| V/G | 0.0922 | likely_benign | 0.084 | benign | -0.333 | Destabilizing | 0.003 | N | 0.295 | neutral | N | 0.4977596 | None | None | I |
| V/H | 0.275 | likely_benign | 0.2495 | benign | 0.027 | Stabilizing | 0.131 | N | 0.309 | neutral | None | None | None | None | I |
| V/I | 0.0656 | likely_benign | 0.0642 | benign | -0.297 | Destabilizing | None | N | 0.093 | neutral | N | 0.48923333 | None | None | I |
| V/K | 0.1261 | likely_benign | 0.1174 | benign | -0.323 | Destabilizing | 0.004 | N | 0.229 | neutral | None | None | None | None | I |
| V/L | 0.0952 | likely_benign | 0.087 | benign | -0.297 | Destabilizing | None | N | 0.065 | neutral | N | 0.4731678 | None | None | I |
| V/M | 0.0814 | likely_benign | 0.0754 | benign | -0.55 | Destabilizing | 0.069 | N | 0.216 | neutral | None | None | None | None | I |
| V/N | 0.1026 | likely_benign | 0.0944 | benign | -0.092 | Destabilizing | 0.01 | N | 0.548 | neutral | None | None | None | None | I |
| V/P | 0.1287 | likely_benign | 0.1208 | benign | -0.267 | Destabilizing | None | N | 0.249 | neutral | None | None | None | None | I |
| V/Q | 0.1438 | likely_benign | 0.1344 | benign | -0.298 | Destabilizing | 0.021 | N | 0.393 | neutral | None | None | None | None | I |
| V/R | 0.1349 | likely_benign | 0.1243 | benign | 0.091 | Stabilizing | None | N | 0.274 | neutral | None | None | None | None | I |
| V/S | 0.0789 | likely_benign | 0.0739 | benign | -0.392 | Destabilizing | None | N | 0.146 | neutral | None | None | None | None | I |
| V/T | 0.0683 | likely_benign | 0.0657 | benign | -0.421 | Destabilizing | None | N | 0.055 | neutral | None | None | None | None | I |
| V/W | 0.5498 | ambiguous | 0.5001 | ambiguous | -0.765 | Destabilizing | 0.633 | D | 0.299 | neutral | None | None | None | None | I |
| V/Y | 0.3186 | likely_benign | 0.291 | benign | -0.488 | Destabilizing | 0.131 | N | 0.313 | neutral | None | None | None | None | I |
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.