Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29486 | 88681;88682;88683 | chr2:178555003;178555002;178555001 | chr2:179419730;179419729;179419728 |
| N2AB | 27845 | 83758;83759;83760 | chr2:178555003;178555002;178555001 | chr2:179419730;179419729;179419728 |
| N2A | 26918 | 80977;80978;80979 | chr2:178555003;178555002;178555001 | chr2:179419730;179419729;179419728 |
| N2B | 20421 | 61486;61487;61488 | chr2:178555003;178555002;178555001 | chr2:179419730;179419729;179419728 |
| Novex-1 | 20546 | 61861;61862;61863 | chr2:178555003;178555002;178555001 | chr2:179419730;179419729;179419728 |
| Novex-2 | 20613 | 62062;62063;62064 | chr2:178555003;178555002;178555001 | chr2:179419730;179419729;179419728 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/M | None | None | 0.984 | N | 0.481 | 0.176 | 0.452264262256 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85829E-06 | 0 | 0 |
| L/P | rs1376620284  |
-0.731 | 0.984 | N | 0.595 | 0.268 | 0.628357094819 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66279E-04 |
| L/P | rs1376620284 |
-0.731 | 0.984 | N | 0.595 | 0.268 | 0.628357094819 | gnomAD-4.0.0 | 1.59156E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02517E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1194 | likely_benign | 0.1101 | benign | -0.851 | Destabilizing | 0.919 | D | 0.421 | neutral | None | None | None | None | N |
| L/C | 0.4264 | ambiguous | 0.3703 | ambiguous | -0.565 | Destabilizing | 0.999 | D | 0.513 | neutral | None | None | None | None | N |
| L/D | 0.4342 | ambiguous | 0.3781 | ambiguous | -0.381 | Destabilizing | 0.976 | D | 0.559 | neutral | None | None | None | None | N |
| L/E | 0.2459 | likely_benign | 0.2054 | benign | -0.468 | Destabilizing | 0.851 | D | 0.494 | neutral | None | None | None | None | N |
| L/F | 0.1171 | likely_benign | 0.1018 | benign | -0.811 | Destabilizing | 0.996 | D | 0.447 | neutral | None | None | None | None | N |
| L/G | 0.3371 | likely_benign | 0.2884 | benign | -1.049 | Destabilizing | 0.976 | D | 0.551 | neutral | None | None | None | None | N |
| L/H | 0.139 | likely_benign | 0.1224 | benign | -0.378 | Destabilizing | 0.997 | D | 0.623 | neutral | None | None | None | None | N |
| L/I | 0.0826 | likely_benign | 0.0812 | benign | -0.441 | Destabilizing | 0.959 | D | 0.432 | neutral | None | None | None | None | N |
| L/K | 0.1427 | likely_benign | 0.1214 | benign | -0.508 | Destabilizing | 0.851 | D | 0.46 | neutral | None | None | None | None | N |
| L/M | 0.0893 | likely_benign | 0.0864 | benign | -0.337 | Destabilizing | 0.984 | D | 0.481 | neutral | N | 0.441663096 | None | None | N |
| L/N | 0.2063 | likely_benign | 0.1899 | benign | -0.228 | Destabilizing | 0.976 | D | 0.584 | neutral | None | None | None | None | N |
| L/P | 0.4612 | ambiguous | 0.3198 | benign | -0.544 | Destabilizing | 0.984 | D | 0.595 | neutral | N | 0.471119211 | None | None | N |
| L/Q | 0.0883 | likely_benign | 0.0817 | benign | -0.479 | Destabilizing | 0.046 | N | 0.291 | neutral | N | 0.399661758 | None | None | N |
| L/R | 0.1121 | likely_benign | 0.0922 | benign | 0.082 | Stabilizing | 0.938 | D | 0.507 | neutral | N | 0.336855499 | None | None | N |
| L/S | 0.1363 | likely_benign | 0.1199 | benign | -0.701 | Destabilizing | 0.919 | D | 0.485 | neutral | None | None | None | None | N |
| L/T | 0.1182 | likely_benign | 0.1116 | benign | -0.68 | Destabilizing | 0.919 | D | 0.45 | neutral | None | None | None | None | N |
| L/V | 0.0793 | likely_benign | 0.0764 | benign | -0.544 | Destabilizing | 0.946 | D | 0.426 | neutral | N | 0.470772495 | None | None | N |
| L/W | 0.2159 | likely_benign | 0.1667 | benign | -0.834 | Destabilizing | 0.999 | D | 0.622 | neutral | None | None | None | None | N |
| L/Y | 0.2694 | likely_benign | 0.2294 | benign | -0.587 | Destabilizing | 0.996 | D | 0.495 | 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.